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 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 ENST00000392102.1 + 3 1373 c.1033G>A c.(1033-1035)Gca>Aca p.A345T TTLL4_ENST00000258398.4_Missense_Mutation_p.A345T|TTLL4_ENST00000457313.1_Missense_Mutation_p.A180T|TTLL4_ENST00000442769.1_Missense_Mutation_p.A345T NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 345 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 0.000248 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342122 60342122 + RNA 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.chr17:60342122A>G ENST00000581291.1 - 0 2031 breast(2)|kidney(1)|lung(2) 5 CCATGAGTTTAAAGTACAAAG 0.443000 2 12 0 0 0.004672 0 0 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 ENST00000315596.10 + 22 2632 c.2446G>A c.(2446-2448)Gaa>Aaa p.E816K NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 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 0.001523 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 ENST00000559488.1 + 7 1028 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K ITGB3_ENST00000571680.1_Missense_Mutation_p.E338K|ITGB3_ENST00000435993.2_Missense_Mutation_p.E291K|ITGB3_ENST00000560629.1_Silent_p.*326* NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 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 0.001882 0 0 CTDP1 9150 broad.mit.edu 37 18 77464908 77464908 + Missense_Mutation SNP A A 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.chr18:77464908A>C ENST00000299543.7 + 5 910 c.763A>C c.(763-765)Acc>Ccc p.T255P CTDP1_ENST00000075430.7_Missense_Mutation_p.T255P NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 255 FCP1 homology. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GTACGCACACACCATCGCAGG 0.547000 7 49 0 0 0.008291 0 0 POM121L9P 0 broad.mit.edu 37 22 24659741 24659741 + RNA SNP G G A rs144618782 by1000genomes 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.chr22:24659741G>A ENST00000414583.2 + 0 3266 NR_003714.1 CTGTGGGAGGGGGGAATGTTC 0.622000 5 11 0 0 0.000602 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 ENST00000255030.5 - 2 697 c.594C>T c.(592-594)ttC>ttT p.F198F CRP_ENST00000343919.2_Silent_p.F76F|CRP_ENST00000368111.1_Silent_p.F76F|CRP_ENST00000437342.1_Silent_p.F20F|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Silent_p.F76F NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 198 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface 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 0.002445 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 ENST00000302472.3 + 2 1161 c.137G>A c.(136-138)cGc>cAc p.R46H PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 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 0.000248 0 0 KCND2 3751 broad.mit.edu 37 7 119914768 119914768 + 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.chr7:119914768C>T ENST00000331113.4 + 1 1047 c.82C>T c.(82-84)Ccg>Tcg p.P28S NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 28 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGGGCCTATGCCGGCTCCCCC 0.632000 5 242 0 0 0.000602 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 ENST00000296564.7 + 13 4629 c.4407G>A c.(4405-4407)aaG>aaA p.K1469K NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 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 0.000602 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 ENST00000233242.1 - 26 10706 c.10579C>T c.(10579-10581)Cgg>Tgg p.R3527W NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 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 0.000602 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 ENST00000438389.2 - 4 1139 c.305C>T c.(304-306)gCc>gTc p.A102V ISOC2_ENST00000425675.2_Missense_Mutation_p.A172V|ISOC2_ENST00000085068.3_Missense_Mutation_p.A188V NM_001136202.1 NP_001129674.1 Q96AB3 ISOC2_HUMAN isochorismatase domain containing 2 172 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 0.000248 0 0 SOS2 6655 broad.mit.edu 37 14 50671054 50671054 + Missense_Mutation SNP T T 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.chr14:50671054T>A ENST00000216373.5 - 2 435 c.161A>T c.(160-162)cAg>cTg p.Q54L SOS2_ENST00000543680.1_Missense_Mutation_p.Q54L NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 54 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) ATTAAGCAGCTGAAAAATCAG 0.348000 4 244 0 0 0.000248 0 0 MKS1 54903 broad.mit.edu 37 17 56283864 56283864 + Splice_Site 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 ENST00000337050.7 - 16 1418 c.1407_splice c.e16-1 p.A470_splice MKS1_ENST00000393119.2_Silent_p.G484G|MKS1_ENST00000537529.2_Silent_p.G474G|MKS1_ENST00000313863.6_Intron|MKS1_ENST00000546108.1_Silent_p.G281G Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 0 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 0.000602 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site 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.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 9 21 0 0 0.006214 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 ENST00000373018.3 - 7 1654 c.1403A>G c.(1402-1404)aAc>aGc p.N468S FRS3_ENST00000259748.2_Missense_Mutation_p.N468S NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 468 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 0.001168 0 0 POM121L9P 0 broad.mit.edu 37 22 24659764 24659764 + RNA SNP C C G rs143464834 by1000genomes 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.chr22:24659764C>G ENST00000414583.2 + 0 3289 NR_003714.1 AGTGTCCTAACAGCCCTGCTT 0.627000 2 8 0 0 0.004672 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 ENST00000222219.3 - 5 669 c.577G>A c.(577-579)Gaa>Aaa p.E193K DNASE2_ENST00000538460.1_Missense_Mutation_p.E138K NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 193 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 TCGGGGAATTCCTGGGCAAAG 0.557000 13 39 0 0 0.001368 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 ENST00000230085.8 - 1 492 c.154A>G c.(154-156)Agg>Ggg p.R52G SNX3_ENST00000368982.4_Missense_Mutation_p.R52G|SNX3_ENST00000349379.5_Intron|SNX3_ENST00000426155.2_Missense_Mutation_p.R52G NM_003795.4 NP_003786.1 O60493 SNX3_HUMAN sorting nexin 3 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 0.004672 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 ENST00000272519.5 + 5 852 c.582G>A c.(580-582)aaG>aaA p.K194K RALB_ENST00000470417.1_3'UTR|RALB_ENST00000420510.1_Silent_p.K194K|RALB_ENST00000404963.3_Silent_p.K215K|RALB_ENST00000474855.2_Silent_p.K216K NM_002881.2 NP_002872.1 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 194 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 0.000602 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 ENST00000368316.1 - 17 2067 c.1597A>G c.(1597-1599)Acc>Gcc p.T533A ARHGEF2_ENST00000361247.4_Missense_Mutation_p.T561A|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.T533A|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.T562A|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.T560A Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 561 PH. 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 cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|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 0.000602 0 0 KMT2C 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 ENST00000355193.2 - 42 9856 c.9638C>T c.(9637-9639)tCa>tTa p.S3213L KMT2C_ENST00000262189.6_Missense_Mutation_p.S3213L lysine (K)-specific methyltransferase 2C TTGTTTAGCTGAAAGGGCCTT 0.443000 36 97 0 0 0.003271 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 ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 0.005443 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + 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.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 88 0 0 0.000248 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 ENST00000550536.1 + 2 513 c.56A>G c.(55-57)aAt>aGt p.N19S RAB3IP_ENST00000483530.2_Missense_Mutation_p.N3S|RAB3IP_ENST00000247833.7_Missense_Mutation_p.N3S|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.N3S|RAB3IP_ENST00000362025.5_Missense_Mutation_p.N19S NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 19 cilium assembly|Golgi to plasma membrane transport|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 0.004672 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA 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.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 7 23 0 0 0.003080 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 ENST00000409389.1 - 19 2091_2092 c.1919_1920insA c.(1918-1920)aacfs p.N640fs SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Frame_Shift_Ins_p.N629fs Q9Y5W8 SNX13_HUMAN sorting nexin 13 640 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 --- --- --- --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT GCT - 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.chr9:130953109_130953111delGCT ENST00000538431.1 - 2 273_275 c.26_28delAGC c.(25-30)ctc>c p.QL9del CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 9 Gln-rich. Missing (in Ref. 7; AAF23231). nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 2 4 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - 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.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 9 247 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 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.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 2 4 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661174 22661174 + RNA DEL C 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.chr22:22661174delC ENST00000426066.1 + 0 266 NR_027293.1 TACAGGTTTTCCCCCCCCACC 0.403 7 25 --- --- --- --- 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 ENST00000378045.4 - 1 188 c.20delC c.(19-21)ctfs p.P8fs NM_173794.3 NP_776155.1 Q8IVP5 FUND1_HUMAN FUN14 domain containing 1 8 breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 ACCTTGGGGAGGGGGGTTCCG 0.657 2 4 --- --- --- ---