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 PDS5B 23047 broad.mit.edu 37 13 33315257 33315257 + Missense_Mutation SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr13:33315257G>A uc010abf.3 + 21 2632 c.2446G>A c.(2446-2448)Gaa>Aaa p.E816K PDS5B_uc010abg.3_Non-coding_Transcript NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 816 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GGTTCCAGATGAAGAAGTATC 0.289000 21 61 0 0 1 0 0 PTGER4 5734 broad.mit.edu 37 5 40681232 40681232 + Missense_Mutation SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr5:40681232G>A uc003jlz.3 + 1 729 c.137G>A c.(136-138)cGc>cAc p.R46H NM_000958 NP_000949 P35408 PE2R4_HUMAN Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA. 46 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TGCAAGTCGCGCAAGGAGCAG 0.627000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 76 0 0 1 0 0 TTLL4 9654 broad.mit.edu 37 2 219603432 219603432 + Missense_Mutation SNP G G A rs138326187 byFrequency TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr2:219603432G>A uc002viy.3 + 2 1403 c.1033G>A c.(1033-1035)Gca>Aca p.A345T TTLL4_uc010zkl.1_Missense_Mutation_p.A180T|TTLL4_uc010fvx.3_Missense_Mutation_p.A345T NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 345 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) GAAATTGACCGCAAGAGGCTT 0.542000 4 109 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159683396 159683396 + Silent SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr1:159683396G>A uc001ftw.3 - 1 698 c.594C>T c.(592-594)ttC>ttT p.F198F CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 198 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CATTAGGACTGAAGGGCCCGC 0.542000 31 101 0 0 1 0 0 SNX3 8724 broad.mit.edu 37 6 108581972 108581972 + Missense_Mutation SNP T T C TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr6:108581972T>C uc003psh.3 - 0 493 c.154A>G c.(154-156)Agg>Ggg p.R52G SNX3_uc003psi.3_Missense_Mutation_p.R52G|SNX3_uc010kdi.3_Non-coding_Transcript NM_003795 NP_003786 O60493 SNX3_HUMAN Homo sapiens sorting nexin 3 (SNX3), transcript variant 1, mRNA. 52 PX. cell communication|endocytosis|protein transport early endosome|endosome membrane phosphatidylinositol-3-phosphate binding|protein phosphatase binding large_intestine(1) 1 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743) ACCTTGACCCTGATTTCGTAA 0.662000 3 56 0 0 1 0 0 ISOC2 79763 broad.mit.edu 37 19 55966378 55966378 + Missense_Mutation SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr19:55966378G>A uc002qla.3 - 4 737 c.563C>T c.(562-564)gCc>gTc p.A188V ISOC2_uc002qlb.3_Missense_Mutation_p.A172V|ISOC2_uc002qlc.3_Missense_Mutation_p.A102V NM_024710 NP_078986 Q96AB3 ISOC2_HUMAN Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 172 protein destabilization mitochondrion|nucleus catalytic activity|protein binding endometrium(1)|lung(4)|ovary(1)|stomach(1) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0535) GGGGTGGACGGCATCGCCCAC 0.622000 OREG0025682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 47 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463854 5463854 + Silent SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr5:5463854G>A uc003jdm.4 + 12 4629 c.4407G>A c.(4405-4407)aaG>aaA p.K1469K NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 1469 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CTGCTGAGAAGTCCCCAGAGG 0.522000 4 112 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738433 41738433 + Missense_Mutation SNP T T C TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr6:41738433T>C uc003orc.1 - 6 1647 c.1403A>G c.(1402-1404)aAc>aGc p.N468S NM_006653 NP_006644 O43559 FRS3_HUMAN Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA. 468 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCTCTGCAGGTTGGACATGGC 0.637000 6 99 0 0 1 0 0 RALB 5899 broad.mit.edu 37 2 121050797 121050797 + Silent SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr2:121050797G>A uc010yys.2 + 4 691 c.648G>A c.(646-648)aaG>aaA p.K216K RALB_uc002tmk.3_Silent_p.K194K|RALB_uc002tml.3_Silent_p.K215K|RALB_uc010yyt.2_Non-coding_Transcript NM_002881 NP_002872 P11234 RALB_HUMAN Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA. 194 Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(154;0.122) AAAGCAGCAAGAACAAGAAAA 0.423000 5 38 0 0 1 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155927538 155927538 + Missense_Mutation SNP T T C TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr1:155927538T>C uc001fmu.2 - 16 2068 c.1813A>G c.(1813-1815)Acc>Gcc p.T605A ARHGEF2_uc001fmr.2_Missense_Mutation_p.T533A|ARHGEF2_uc001fms.2_Missense_Mutation_p.T560A|ARHGEF2_uc001fmt.2_Missense_Mutation_p.T561A NM_004723 NP_004714 Q92974 ARHG2_HUMAN Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA. 561 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CGGATCCAGGTGCTCCGGTCA 0.582000 5 57 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 22 56 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229161 21229161 + Missense_Mutation SNP G G A rs144467873 TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr2:21229161G>A uc002red.3 - 25 10707 c.10579C>T c.(10579-10581)Cgg>Tgg p.R3527W NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3527 R -> Q (in FDB; dbSNP:rs5742904). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ACTGAAGACCGTGTGCTCTTG 0.433000 4 139 0 0 1 0 0 DNASE2 1777 broad.mit.edu 37 19 12989328 12989328 + Missense_Mutation SNP C C T TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr19:12989328C>T uc002mvn.1 - 4 723 c.577G>A c.(577-579)Gaa>Aaa p.E193K DNASE2_uc010xmr.1_Missense_Mutation_p.E138K NM_001375 NP_001366 O00115 DNS2A_HUMAN Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA. 193 apoptosis lysosome DNA binding|deoxyribonuclease II activity|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 TCGGGGAATTCCTGGGCAAAG 0.557000 13 39 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70149196 70149196 + Missense_Mutation SNP A A G TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr12:70149196A>G uc001svp.3 + 1 503 c.56A>G c.(55-57)aAt>aGt p.N19S RAB3IP_uc021rao.1_Missense_Mutation_p.N3S|RAB3IP_uc001svm.3_Missense_Mutation_p.N3S|RAB3IP_uc001svn.3_Missense_Mutation_p.N3S|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.N19S|RAB3IP_uc001svs.3_Non-coding_Transcript NM_175623 NP_001019818 Q96QF0 RAB3I_HUMAN Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA. 19 Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) GCTATGGCTAATGATCCCTTG 0.353000 3 66 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151864343 151864343 + Missense_Mutation SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr7:151864343G>A uc003wla.3 - 41 9857 c.9638C>T c.(9637-9639)tCa>tTa p.S3213L MLL3_uc003wkz.3_Missense_Mutation_p.S2274L|MLL3_uc003wky.3_Missense_Mutation_p.S722L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 3213 Gln-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTGTTTAGCTGAAAGGGCCTT 0.443000 N medulloblastoma 36 97 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45367119 45367119 + Missense_Mutation SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr17:45367119G>A uc002ilj.3 + 6 1032 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K ITGB3_uc002ili.1_Missense_Mutation_p.E338K|ITGB3_uc010wkr.1_Non-coding_Transcript NM_000212 NP_000203 P05106 ITB3_HUMAN Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA. 338 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) TGCAGTGACTGAAAATGTAGT 0.483000 21 35 0 0 1 0 0 MKS1 54903 broad.mit.edu 37 17 56283864 56283864 + Silent SNP G G A TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr17:56283864G>A uc002ivr.2 - 15 1527 c.1452C>T c.(1450-1452)ggC>ggT p.G484G MKS1_uc010wnq.2_Silent_p.G281G|MKS1_uc021uam.1_Silent_p.G474G NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA. 484 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 AGGTGACAGTGCCTGTGGTCT 0.617000 4 71 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17855871 17855872 + Frame_Shift_Ins INS - - T TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chr7:17855871_17855872insT uc003stv.3 - 18 2099_2100 c.1886_1887insA c.(1885-1887)aagfs p.K629fs SNX13_uc010kuc.3_Frame_Shift_Ins_p.K426fs|SNX13_uc003stw.1_Frame_Shift_Ins_p.K640fs|SNX13_uc010kub.3_Frame_Shift_Ins_p.K35fs NM_015132 NP_055947 Q9Y5W8 SNX13_HUMAN Homo sapiens sorting nexin 13 (SNX13), mRNA. 640 PX. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) TATTAAAAGTCTTTTTTCCAGG 0.292 2 4 --- --- --- --- FUNDC1 139341 broad.mit.edu 37 X 44402059 44402059 + Frame_Shift_Del DEL G G - TCGA-DJ-A2QA-01A-11D-A18F-08 TCGA-DJ-A2QA-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1f8d67e6-5d90-447a-a421-2420df6fc47b ab7884d1-54c7-49cd-86c9-93a0c0af8884 g.chrX:44402059delG uc004dgc.3 - 0 163 c.20delC c.(19-21)cctfs p.P7fs NM_173794 NP_776155 Q8IVP5 FUND1_HUMAN Homo sapiens FUN14 domain containing 1 (FUNDC1), mRNA. 7 breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 ACCTTGGGGAGGGGGGTTCCG 0.657 2 4 --- --- --- ---