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 LONRF2 164832 broad.mit.edu 37 2 100903492 100903492 + Missense_Mutation SNP G G C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:100903492G>C ENST00000393437.3 - 11 2593 c.1954C>G c.(1954-1956)Ctc>Gtc p.L652V LONRF2_ENST00000409647.1_Missense_Mutation_p.L409V NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 652 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GAATCGTGGAGAGCGGCAAGT 0.488000 3 35 0 0 0.115264 0 0 EPPK1 83481 broad.mit.edu 37 8 144940615 144940615 + Silent SNP G G A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr8:144940615G>A ENST00000525985.1 - 2 6878 c.6807C>T c.(6805-6807)acC>acT p.T2269T P58107 EPIPL_HUMAN epiplakin 1 2269 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGACGAAGCCGGTGGCCGCCT 0.716000 7 55 0 0 0.248553 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700311 77700311 + Missense_Mutation SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr4:77700311C>T ENST00000296043.6 + 11 6925 c.5972C>T c.(5971-5973)aCa>aTa p.T1991I RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1991 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ATTTTCCCAACATTAACCTCT 0.448000 4 51 0 0 0.150653 0 0 PCDH9 5101 broad.mit.edu 37 13 67801027 67801027 + Missense_Mutation SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr13:67801027C>T ENST00000544246.1 - 2 2237 c.1546G>A c.(1546-1548)Gat>Aat p.D516N PCDH9_ENST00000377865.2_Missense_Mutation_p.D516N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D516N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D516N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D516N NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 516 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CGGTCCAGATCAAAGAAGGAG 0.433000 4 80 0 0 0.150653 0 0 AP3B1 8546 broad.mit.edu 37 5 77452177 77452177 + Missense_Mutation SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr5:77452177C>T ENST00000255194.6 - 14 1553 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K AP3B1_ENST00000519295.1_Missense_Mutation_p.E411K NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 460 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) ACCACACTTTCAGCAACAACT 0.299000 Hermansky-Pudlak syndrome 7 76 0 0 0.278610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 86 0 0 0.115264 0 0 PSG4 5672 broad.mit.edu 37 19 43702160 43702160 + Missense_Mutation SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr19:43702160A>G ENST00000405312.3 - 3 935 c.698T>C c.(697-699)cTg>cCg p.L233P PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.L233P NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 233 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) GAGGAGATTCAGGGTGACTGG 0.527000 5 300 0 0 0.217242 0 0 ABCB7 22 broad.mit.edu 37 X 74293735 74293735 + Nonsense_Mutation SNP G G T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chrX:74293735G>T ENST00000253577.3 - 7 939 c.915C>A c.(913-915)taC>taA p.Y305* ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.Y304*|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.Y264* NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 304 ABC transmembrane type-1. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TGAATGCTGTGTATGTACCAA 0.373000 4 55 0.00909568 0.0104738 0.150653 1 0 LRP5 4041 broad.mit.edu 37 11 68181159 68181159 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr11:68181159C>T ENST00000294304.7 + 12 2612 c.2506C>T c.(2506-2508)Cag>Tag p.Q836* NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 836 Beta-propeller 3. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCATGCAGGTCAGGAGCGGGT 0.607000 4 50 0 0 0.150653 0 0 EGFLAM 133584 broad.mit.edu 37 5 38451448 38451448 + Missense_Mutation SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr5:38451448A>G ENST00000322350.5 + 19 2921 c.2575A>G c.(2575-2577)Agg>Ggg p.R859G EGFLAM_ENST00000336740.6_Missense_Mutation_p.R625G|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R867G|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R225G|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R2G|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R2G NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 867 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGTGTTCATGAGGTTTAAAAC 0.473000 3 100 0 0 0.115264 0 0 USP46 64854 broad.mit.edu 37 4 53492228 53492228 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr4:53492228T>C ENST00000441222.2 - 4 702 c.518A>G c.(517-519)cAg>cGg p.Q173R USP46_ENST00000451218.2_Missense_Mutation_p.Q146R|USP46_ENST00000508499.1_Missense_Mutation_p.Q166R NM_022832.3 NP_073743.2 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 173 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) AAGCGTTCCCTGAAAAATCTC 0.383000 3 56 0 0 0.150653 0 0 PIK3CB 5291 broad.mit.edu 37 3 138374244 138374244 + Missense_Mutation SNP T T A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr3:138374244T>A ENST00000477593.1 - 23 3273 c.3200A>T c.(3199-3201)gAc>gTc p.D1067V PIK3CB_ENST00000289153.2_Missense_Mutation_p.D1067V|PIK3CB_ENST00000544716.1_Missense_Mutation_p.D518V P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1067 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.D1067V(1) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGATCTGTAGTCTTTCCGAAC 0.408000 5 65 0 0 0.184627 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 7 42 0 0 0.278610 0 0 OR2G6 391211 broad.mit.edu 37 1 248685767 248685767 + Missense_Mutation SNP G G T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr1:248685767G>T ENST00000343414.4 + 1 852 c.820G>T c.(820-822)Gtt>Ttt p.V274F NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGAAAGTTTGTTTCTCTTTT 0.438000 9 73 0.000442599 0.000525587 0.335167 1 0 ZFHX3 463 broad.mit.edu 37 16 72829670 72829670 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr16:72829670T>C ENST00000268489.5 - 9 7583 c.6911A>G c.(6910-6912)cAg>cGg p.Q2304R ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q1390R NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2304 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GCCCTCTCCCTGATTCTCATA 0.443000 3 129 0 0 0.115264 0 0 MKI67 4288 broad.mit.edu 37 10 129905423 129905423 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr10:129905423T>C ENST00000368654.3 - 13 5056 c.4681A>G c.(4681-4683)Aaa>Gaa p.K1561E MKI67_ENST00000368653.3_Missense_Mutation_p.K1201E NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1561 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGGTCCAGTTTCTGCACTGGA 0.493000 17 192 0 0 0.520397 0 0 FZD8 8325 broad.mit.edu 37 10 35930194 35930194 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr10:35930194T>C ENST00000374694.1 - 1 168 c.164A>G c.(163-165)aAt>aGt p.N55S NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 55 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GTTGAACTGATTGGGCATGTA 0.617000 3 33 0 0 0.115264 0 0 MGAT5B 146664 broad.mit.edu 37 17 74878302 74878302 + Missense_Mutation SNP G G A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr17:74878302G>A ENST00000569840.2 + 3 825 c.251G>A c.(250-252)cGc>cAc p.R84H MGAT5B_ENST00000301618.4_Missense_Mutation_p.R84H|MGAT5B_ENST00000565675.1_Missense_Mutation_p.R84H|MGAT5B_ENST00000428789.2_Missense_Mutation_p.R95H|MGAT5B_ENST00000374998.3_3'UTR NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 84 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATGGTGAAGCGCATGGACGCA 0.672000 6 21 0 0 0.278610 0 0 RTKN 6242 broad.mit.edu 37 2 74656958 74656958 + Missense_Mutation SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:74656958A>G ENST00000305557.5 - 7 1298 c.713T>C c.(712-714)gTt>gCt p.V238A RTKN_ENST00000233330.6_Missense_Mutation_p.V201A|RTKN_ENST00000272430.5_Missense_Mutation_p.V251A NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 251 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 GCCTTACCCAACAACTGGGGT 0.602000 4 43 0 0 0.150653 0 0 LPPR1 0 broad.mit.edu 37 9 104071536 104071536 + Silent SNP C C T TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr9:104071536C>T ENST00000374874.3 + 5 868 c.429C>T c.(427-429)aaC>aaT p.N143N LPPR1_ENST00000395056.2_Silent_p.N143N NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 143 integral to membrane catalytic activity TTTTTGTAAACGCCGGACAAG 0.418000 9 71 0 0 0.307466 0 0 AP3B1 8546 broad.mit.edu 37 5 77452176 77452176 + Missense_Mutation SNP T T A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr5:77452176T>A ENST00000255194.6 - 14 1554 c.1379A>T c.(1378-1380)gAa>gTa p.E460V AP3B1_ENST00000519295.1_Missense_Mutation_p.E411V NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 460 endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) AACCACACTTTCAGCAACAAC 0.299000 Hermansky-Pudlak syndrome 7 76 0 0 0.278610 0 0 WDR49 151790 broad.mit.edu 37 3 167245799 167245799 + Missense_Mutation SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr3:167245799A>G ENST00000308378.3 - 11 1662 c.1357T>C c.(1357-1359)Tgt>Cgt p.C453R WDR49_ENST00000476376.1_Missense_Mutation_p.C278R|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 453 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 GAGTTAAGACAGTACTCCTGA 0.353000 7 37 0 0 0.278610 0 0 AC093642.5 0 broad.mit.edu 37 2 243037115 243037115 + RNA SNP A A G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:243037115A>G ENST00000456398.1 + 0 247 GGCTGGAAGAATTGTGAATCT 0.398000 3 70 0 0 0.278610 0 0 DUSP13 0 broad.mit.edu 37 10 76868831 76868831 + Missense_Mutation SNP G G A TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr10:76868831G>A ENST00000372702.3 - 1 148 c.85C>T c.(85-87)Cgg>Tgg p.R29W DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.R29W Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 29 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) TTCCCTGCCCGCAGGAGCTCC 0.642000 3 39 0 0 0.150653 0 0 DOCK10 55619 broad.mit.edu 37 2 225739448 225739448 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:225739448T>C ENST00000409592.3 - 9 1047 c.934A>G c.(934-936)Act>Gct p.T312A DOCK10_ENST00000258390.7_Missense_Mutation_p.T318A Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 318 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CATTCACAAGTTACAGAATTA 0.373000 11 114 0 0 0.411799 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 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 3 95 0 0 0.115264 0 0 PTPRN 5798 broad.mit.edu 37 2 220162111 220162111 + Silent SNP C C G TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr2:220162111C>G ENST00000295718.2 - 14 2172 c.1932G>C c.(1930-1932)cgG>cgC p.R644R PTPRN_ENST00000423636.2_Silent_p.R554R|PTPRN_ENST00000409251.3_Silent_p.R615R NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 644 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GACCCTCTGCCCGGTTGAACA 0.627000 6 56 0 0 0.248553 0 0 POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-DJ-A2Q9-01A-21D-A18F-08 TCGA-DJ-A2Q9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx adf1cfbc-98f6-4cab-9dd2-adbc4b68563d fa3be43f-26a6-4058-bf98-43f73d552719 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 9 8 --- --- --- ---