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 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 42 0 0 0.00116845 0 0 PTCHD1 139411 broad.mit.edu 37 X 23412156 23412156 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:23412156A>G ENST00000379361.4 + 3 3381 c.2521A>G c.(2521-2523)Att>Gtt p.I841V NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 841 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CTGCTTTGCCATTTTACCTGT 0.418000 35 76 0 0 0.000491102 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668708 176668708 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:176668708C>A ENST00000367662.3 + 8 4383 c.3219C>A c.(3217-3219)caC>caA p.H1073Q NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1073 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CACATTCTCACAGGAAGTTCA 0.542000 14 193 2.31682e-05 0.000131075 0.000308642 1 0 ANKRD7 56311 broad.mit.edu 37 7 117876904 117876904 + Missense_Mutation SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr7:117876904G>C ENST00000357099.4 + 6 869 c.696G>C c.(694-696)caG>caC p.Q232H ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Missense_Mutation_p.Q159H|ANKRD7_ENST00000417525.1_Missense_Mutation_p.Q159H|ANKRD7_ENST00000265224.4_Missense_Mutation_p.Q212H Q92527 ANKR7_HUMAN ankyrin repeat domain 7 212 male gonad development p.Q232H(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 TTCTTCTTCAGCAAGGTGTGG 0.393000 4 112 0 0 0.00116845 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685542 111685542 + Nonsense_Mutation SNP G G T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:111685542G>T ENST00000431670.2 + 14 3571 c.3160G>T c.(3160-3162)Gaa>Taa p.E1054* PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.E1011*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.E1038*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.E1054*|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Nonsense_Mutation_p.E545*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.E1011* NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1054 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GCGGCTGCTCGAATCCAGGGT 0.488000 14 29 1.05317e-09 6.39646e-09 0.000219431 1 0 PDE10A 10846 broad.mit.edu 37 6 165848820 165848820 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:165848820G>A ENST00000366882.1 - 7 566 c.412C>T c.(412-414)Cgc>Tgc p.R138C PDE10A_ENST00000354448.4_Missense_Mutation_p.R138C|PDE10A_ENST00000539869.2_Missense_Mutation_p.R148C Q9Y233 PDE10_HUMAN phosphodiesterase 10A 138 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGGATGAGGCGGGGTTTTCCT 0.488000 11 55 0 0 0.00185496 0 0 RHPN2 85415 broad.mit.edu 37 19 33512539 33512539 + Missense_Mutation SNP T T C rs143681913 by1000genomes TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr19:33512539T>C ENST00000254260.3 - 4 363 c.328A>G c.(328-330)Att>Gtt p.I110V RHPN2_ENST00000400226.4_Intron NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 110 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) ATCAGGGGAATCGTAAATGCC 0.532000 3 63 0 0 0.00024832 0 0 TRIM41 90933 broad.mit.edu 37 5 180651713 180651713 + Silent SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:180651713C>T ENST00000315073.5 + 1 1424 c.714C>T c.(712-714)tgC>tgT p.C238C TRIM41_ENST00000351937.5_Silent_p.C238C|CTC-338M12.7_ENST00000499096.2_RNA NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 238 cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTCTTCTGCGAGGTAGACG 0.592000 22 43 0 0 0.00188189 0 0 ST7L 54879 broad.mit.edu 37 1 113124662 113124662 + Missense_Mutation SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:113124662C>G ENST00000358039.4 - 9 1325 c.1021G>C c.(1021-1023)Gaa>Caa p.E341Q ST7L_ENST00000343210.7_Missense_Mutation_p.E341Q|ST7L_ENST00000360743.4_Missense_Mutation_p.E341Q|ST7L_ENST00000490067.1_Missense_Mutation_p.E324Q|ST7L_ENST00000538187.1_Missense_Mutation_p.E285Q|ST7L_ENST00000544629.1_Missense_Mutation_p.E276Q|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Missense_Mutation_p.E324Q|ST7L_ENST00000369666.1_Missense_Mutation_p.E324Q|ST7L_ENST00000369668.2_Missense_Mutation_p.E341Q|ST7L_ENST00000369669.1_Missense_Mutation_p.E158Q NM_017744.4|NM_138727.3 NP_060214.2|NP_620055.1 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7 like 341 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTGTAATTCTAAAAGTGAT 0.328000 3 62 0 0 0.00024832 0 0 TINAG 27283 broad.mit.edu 37 6 54214655 54214655 + Missense_Mutation SNP G G T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:54214655G>T ENST00000259782.4 + 7 1137 c.1041G>T c.(1039-1041)agG>agT p.R347S NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 347 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) AATCTAACAGGATCTATCAAT 0.433000 10 97 1.08611e-07 6.40804e-07 0.000978159 1 0 GGT5 2687 broad.mit.edu 37 22 24640618 24640618 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr22:24640618C>T ENST00000327365.4 - 1 492 c.76G>A c.(76-78)Gct>Act p.A26T GGT5_ENST00000263112.7_Missense_Mutation_p.A26T|GGT5_ENST00000418439.2_Missense_Mutation_p.A26T|GGT5_ENST00000398292.3_Missense_Mutation_p.A26T NM_001099781.1|NM_004121.2 NP_001093251.1|NP_004112.2 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 26 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.A26P(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 AGGACCACAGCCAGCACAATG 0.677000 15 35 0 0 0.000422831 0 0 CCNB3 85417 broad.mit.edu 37 X 50094701 50094701 + Nonstop_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:50094701A>G ENST00000376042.1 + 13 4485 c.4187A>G c.(4186-4188)tAg>tGg p.*1396W CCNB3_ENST00000276014.7_Nonstop_Mutation_p.*1396W|CCNB3_ENST00000376038.1_Nonstop_Mutation_p.*292W|CCNB3_ENST00000348603.2_Nonstop_Mutation_p.*292W Q8WWL7 CCNB3_HUMAN cyclin B3 0 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CTGGTACTCTAGCAGCAGCCA 0.428000 5 48 0 0 0.000602214 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178541012 178541012 + Silent SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:178541012G>A ENST00000251582.7 - 22 3593 c.3492C>T c.(3490-3492)ccC>ccT p.P1164P NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 1164 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGATTTTGTAGGGTTCATCTA 0.547000 30 103 0 0 0.00178596 0 0 N4BP2 55728 broad.mit.edu 37 4 40122226 40122226 + Missense_Mutation SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr4:40122226C>G ENST00000261435.6 + 9 2911 c.2495C>G c.(2494-2496)tCt>tGt p.S832C NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 832 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 AACAGTGTATCTGTGAATACA 0.403000 4 31 0 0 0.00024832 0 0 GPR52 9293 broad.mit.edu 37 1 174418031 174418031 + Missense_Mutation SNP G G A rs144653948 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:174418031G>A ENST00000367685.2 + 1 820 c.782G>A c.(781-783)cGt>cAt p.R261H RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron NM_005684.4 NP_005675.3 Q9Y2T5 GPR52_HUMAN G protein-coupled receptor 52 261 integral to plasma membrane G-protein coupled receptor activity breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2) 20 AGCCCTGACCGTCGCTACGCC 0.458000 30 74 0 0 0.001512 0 0 ZEB2 9839 broad.mit.edu 37 2 145147072 145147072 + Silent SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:145147072C>T ENST00000558170.2 - 10 4775 c.3591G>A c.(3589-3591)ggG>ggA p.G1197G ZEB2_ENST00000303660.4_Silent_p.G1197G|ZEB2_ENST00000539609.3_Silent_p.G1173G|ZEB2_ENST00000409487.3_Silent_p.G1197G NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1197 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TTTCCATTTTCCCATCCTCCG 0.388000 57 236 0 0 0.000781405 0 0 REEP2 51308 broad.mit.edu 37 5 137776766 137776766 + Missense_Mutation SNP G G A rs147103044 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:137776766G>A ENST00000378339.2 + 2 286 c.94G>A c.(94-96)Gtg>Atg p.V32M REEP2_ENST00000254901.5_Missense_Mutation_p.V32M|REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_5'UTR NM_001271803.1 NP_001258732.1 Q9BRK0 REEP2_HUMAN receptor accessory protein 2 32 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GACAAAAAACGTGAAGGAATA 0.547000 14 34 0 0 0.000308642 0 0 PPIG 9360 broad.mit.edu 37 2 170488419 170488419 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:170488419G>A ENST00000260970.3 + 11 1125 c.905G>A c.(904-906)aGa>aAa p.R302K PPIG_ENST00000462903.1_Missense_Mutation_p.R302K|PPIG_ENST00000448752.2_Missense_Mutation_p.R302K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000409714.3_Missense_Mutation_p.R287K NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 302 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) aggaaaaacagagagagagaa 0.348000 5 19 0 0 0.000602214 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186570990 186570990 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:186570990G>A ENST00000412955.2 + 2 284 c.143G>A c.(142-144)gGc>gAc p.G48D ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G48D|ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G48D Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 48 Collagen-like. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GGGCATCCGGGCCATAATGGG 0.612000 8 15 0 0 0.000157383 0 0 ZNF644 84146 broad.mit.edu 37 1 91403507 91403507 + Missense_Mutation SNP G G T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:91403507G>T ENST00000370440.1 - 4 3440 c.3223C>A c.(3223-3225)Cca>Aca p.P1075T ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.P1075T|ZNF644_ENST00000361321.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 1075 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ACACAGATTGGAGATTTGTGA 0.368000 6 103 2.7689e-08 1.65732e-07 8.12818e-05 1 0 MUC4 4585 broad.mit.edu 37 3 195538661 195538661 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:195538661G>A ENST00000463781.3 - 1 487 c.28C>T c.(28-30)Ccc>Tcc p.P10S MUC4_ENST00000475231.1_Missense_Mutation_p.P10S|MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000349607.4_Missense_Mutation_p.P10S|MUC4_ENST00000346145.4_Missense_Mutation_p.P10S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 10 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GACACCCAGGGGACCCTCCTC 0.652000 13 48 0 0 0.000566183 0 0 IL1RL1 9173 broad.mit.edu 37 2 102955462 102955462 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:102955462C>A ENST00000311734.2 + 3 566 c.227C>A c.(226-228)cCa>cAa p.P76Q IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P76Q|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P76Q|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P76Q|IL1RL1_ENST00000404917.2_5'UTR Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 76 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 AAGTTTCTACCAGCTGCAGTT 0.433000 19 138 0.000229342 0.00124629 0.00188189 1 0 TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:7574018G>A ENST00000269305.4 - 10 1198 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 337 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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) ATCTCGAAGCGCTCACGCCCA 0.522000 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) 26 29 0 0 0.001512 0 0 CRB1 23418 broad.mit.edu 37 1 197316538 197316538 + Nonsense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:197316538G>A ENST00000367400.3 + 4 1052 c.917G>A c.(916-918)tGg>tAg p.W306* CRB1_ENST00000535699.1_Nonsense_Mutation_p.W237*|CRB1_ENST00000543483.1_Nonsense_Mutation_p.W5*|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Nonsense_Mutation_p.W306* NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 306 EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCTCTTTGTTGGTCAAAACCT 0.423000 23 61 0 0 0.000375601 0 0 COL6A2 1292 broad.mit.edu 37 21 47549151 47549151 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr21:47549151C>T ENST00000357838.4 + 28 2585 c.2503C>T c.(2503-2505)Cgc>Tgc p.R835C COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000397763.1_Missense_Mutation_p.R835C NM_058174.2 NP_478054.2 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 572 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CACCTTCCTCCGCACGGAAGA 0.672000 31 146 0 0 0.001512 0 0 SORCS1 114815 broad.mit.edu 37 10 108336983 108336983 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr10:108336983A>G ENST00000344440.6 - 27 3592 c.3593T>C c.(3592-3594)gTt>gCt p.V1198A SORCS1_ENST00000263054.6_3'UTR|SORCS1_ENST00000369698.1_3'UTR NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1 NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 0 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTCCATTCAAACATTTACATA 0.308000 21 52 0 0 0.00188189 0 0 CPD 1362 broad.mit.edu 37 17 28782439 28782439 + Missense_Mutation SNP T T G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:28782439T>G ENST00000225719.4 + 15 3364 c.3288T>G c.(3286-3288)gaT>gaG p.D1096E CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.D849E NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1096 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TTGCCTTAGATGGTGGTTCCA 0.363000 16 227 0 0 0.000308642 0 0 WDR13 64743 broad.mit.edu 37 X 48460281 48460281 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:48460281C>A ENST00000218056.5 + 6 1446 c.941C>A c.(940-942)gCc>gAc p.A314D NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353.2 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 314 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 TCCTTTGATGCCCCTGGCCGG 0.577000 11 37 5.50884e-06 3.15993e-05 0.00136819 1 0 GBF1 8729 broad.mit.edu 37 10 104112253 104112253 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr10:104112253A>G ENST00000369983.3 + 7 822 c.562A>G c.(562-564)Atg>Gtg p.M188V NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 188 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TCTCGTAGACATGGTGCAGCT 0.507000 OREG0020477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 56 0 0 0.00185496 0 0 VPS16 64601 broad.mit.edu 37 20 2845910 2845910 + Silent SNP T T G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr20:2845910T>G ENST00000380445.3 + 21 2193 c.2121T>G c.(2119-2121)ggT>ggG p.G707G VPS16_ENST00000380469.3_Silent_p.G563G|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380443.3_Silent_p.G393G NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 707 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 TTCTTGGCGGTCACAACAAGC 0.617000 17 43 0 0 0.000958276 0 0 OR52N1 79473 broad.mit.edu 37 11 5809217 5809217 + Missense_Mutation SNP A A T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr11:5809217A>T ENST00000317078.1 - 1 829 c.830T>A c.(829-831)aTt>aAt p.I277N TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AGCCATAATAATATGTATGTG 0.438000 12 52 0 0 0.00185496 0 0 GPR180 160897 broad.mit.edu 37 13 95271525 95271525 + Silent SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr13:95271525G>C ENST00000376958.4 + 4 652 c.627G>C c.(625-627)ctG>ctC p.L209L NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 209 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TAAAGGTTCTGACAACTGCAT 0.388000 3 75 0 0 6.4e-05 0 0 NIPAL3 57185 broad.mit.edu 37 1 24786997 24786997 + Missense_Mutation SNP G G T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:24786997G>T ENST00000003912.3 + 11 1358 c.643G>T c.(643-645)Ggg>Tgg p.G215W NIPAL3_ENST00000374399.4_Missense_Mutation_p.G297W|NIPAL3_ENST00000339255.2_Missense_Mutation_p.G297W Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 297 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 GGACTTCATCGGGGAGGACGT 0.493000 4 54 8.12818e-05 0.000447592 8.12818e-05 1 0 MUC4 4585 broad.mit.edu 37 3 195538662 195538662 + Silent SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:195538662G>C ENST00000463781.3 - 1 486 c.27C>G c.(25-27)gtC>gtG p.V9V MUC4_ENST00000475231.1_Silent_p.V9V|MUC4_ENST00000478685.1_5'UTR|MUC4_ENST00000349607.4_Silent_p.V9V|MUC4_ENST00000346145.4_Silent_p.V9V NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 9 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACACCCAGGGGACCCTCCTCC 0.647000 13 49 0 0 0.000566183 0 0 TTN 7273 broad.mit.edu 37 2 179447908 179447908 + Silent SNP A A C rs55766906 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:179447908A>C ENST00000589042.1 - 313 65846 c.65622T>G c.(65620-65622)acT>acG p.T21874T TTN_ENST00000342992.6_Silent_p.T19306T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.T13001T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T12809T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Silent_p.T20233T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T12934T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20233 Fibronectin type-III 58. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCTTTCACAGTAAGCAAAG 0.398000 6 21 0 0 0.000157383 0 0 KIF20A 10112 broad.mit.edu 37 5 137521298 137521298 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:137521298G>A ENST00000394894.3 + 16 2250 c.2024G>A c.(2023-2025)cGg>cAg p.R675Q KIF20A_ENST00000508792.1_Missense_Mutation_p.R657Q NM_005733.2 NP_005724.1 O95235 KI20A_HUMAN kinesin family member 20A 675 cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1) 27 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTGGCCCTACGGCGGTCACAA 0.507000 13 118 0 0 0.000219431 0 0 FOXG1 2290 broad.mit.edu 37 14 29237174 29237174 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr14:29237174G>A ENST00000382535.3 + 2 1058 c.689G>A c.(688-690)cGc>cAc p.R230H FOXG1_ENST00000313071.4_Missense_Mutation_p.R230H P55316 FOXG1_HUMAN forkhead box G1 230 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.R230H(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) AACTCCATCCGCCACAATCTG 0.592000 16 30 0 0 0.000566183 0 0 FGF10 2255 broad.mit.edu 37 5 44388506 44388506 + Missense_Mutation SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:44388506C>G ENST00000264664.4 - 1 393 c.279G>C c.(277-279)gaG>gaC p.E93D NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 93 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) TCCCGTTCTTCTCAATCTTGA 0.517000 26 62 0 0 0.000409698 0 0 IGHV1-8 28472 broad.mit.edu 37 14 106539276 106539276 + RNA SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr14:106539276C>G ENST00000390599.2 - 0 215 CAGTTGATATCATAACTGGTG 0.557000 25 138 0 0 0.00047179 0 0 NUP107 57122 broad.mit.edu 37 12 69107517 69107517 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr12:69107517A>G ENST00000229179.4 + 11 1230 c.898A>G c.(898-900)Act>Gct p.T300A NUP107_ENST00000539906.1_Missense_Mutation_p.T271A|NUP107_ENST00000378905.2_Missense_Mutation_p.T149A NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 300 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) CAGGGAAAATACTCTGCATAC 0.328000 14 45 0 0 0.000219431 0 0 ARAP1 116985 broad.mit.edu 37 11 72408407 72408407 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr11:72408407C>T ENST00000359373.5 - 21 3765 c.2914G>A c.(2914-2916)Gtg>Atg p.V972M ARAP1_ENST00000426523.1_Missense_Mutation_p.V727M|ARAP1_ENST00000429686.1_Missense_Mutation_p.V666M|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.V732M|ARAP1_ENST00000455638.2_Missense_Mutation_p.V972M|ARAP1_ENST00000393609.3_Missense_Mutation_p.V972M|ARAP1_ENST00000334211.8_Missense_Mutation_p.V727M Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 972 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TACACGATCACCGGGATATCC 0.682000 4 14 0 0 0.000602214 0 0 CANX 821 broad.mit.edu 37 5 179151752 179151752 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:179151752G>A ENST00000247461.4 + 13 1813 c.1613G>A c.(1612-1614)gGa>gAa p.G538E CANX_ENST00000504734.1_Missense_Mutation_p.G538E|CANX_ENST00000415618.2_Missense_Mutation_p.G573E|CANX_ENST00000452673.2_Missense_Mutation_p.G538E|CANX_ENST00000512607.2_Missense_Mutation_p.G430E NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 538 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) aaggacaagggagatgaggag 0.433000 7 7 0 0 8.12818e-05 0 0 TM4SF1 4071 broad.mit.edu 37 3 149093484 149093484 + Missense_Mutation SNP A A C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr3:149093484A>C ENST00000305366.3 - 2 567 c.250T>G c.(250-252)Tgt>Ggt p.C84G TM4SF1_ENST00000472441.1_5'UTR NM_014220.2 NP_055035.1 P30408 T4S1_HUMAN transmembrane 4 L six family member 1 84 integral to plasma membrane endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CGTTTGCCACAGTTTTCATGG 0.517000 18 157 0 0 0.00152264 0 0 ATP2B4 493 broad.mit.edu 37 1 203668679 203668679 + Silent SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:203668679C>T ENST00000357681.5 + 4 1606 c.483C>T c.(481-483)atC>atT p.I161I ATP2B4_ENST00000391954.2_Silent_p.I161I|ATP2B4_ENST00000367218.3_Silent_p.I161I|ATP2B4_ENST00000341360.2_Silent_p.I161I|ATP2B4_ENST00000367219.3_Silent_p.I161I NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 161 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CAGTGATCATCGTGGTGTTAG 0.502000 11 193 0 0 0.00136819 0 0 HSD17B3 3293 broad.mit.edu 37 9 98997839 98997839 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr9:98997839C>T ENST00000375263.3 - 11 883 c.836G>A c.(835-837)aGc>aAc p.S279N HSD17B3_ENST00000375262.2_Missense_Mutation_p.S229N|HSD17B3_ENST00000464104.1_5'UTR NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 279 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) CGGGATCAGGCTCAGAAAGCC 0.488000 11 10 0 0 0.000978159 0 0 MYO18A 399687 broad.mit.edu 37 17 27493549 27493549 + Missense_Mutation SNP T T C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:27493549T>C ENST00000527372.1 - 2 590 c.410A>G c.(409-411)aAg>aGg p.K137R MYO18A_ENST00000354329.4_Missense_Mutation_p.K137R|MYO18A_ENST00000533112.1_Missense_Mutation_p.K137R|MYO18A_ENST00000531253.1_Missense_Mutation_p.K137R NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 137 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GGAAAAGCGCTTGACAATCAT 0.622000 8 64 0 0 0.000274275 0 0 DHX37 57647 broad.mit.edu 37 12 125434579 125434579 + Silent SNP C C G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr12:125434579C>G ENST00000308736.2 - 25 3341 c.3243G>C c.(3241-3243)cgG>cgC p.R1081R DHX37_ENST00000544745.1_Silent_p.R868R NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 1081 R -> Q (in dbSNP:rs4447263). ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GCAGACAGCTCCGGTATGAGG 0.662000 8 15 0 0 0.000157383 0 0 SHCBP1 79801 broad.mit.edu 37 16 46615942 46615942 + Missense_Mutation SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr16:46615942G>C ENST00000303383.3 - 13 1984 c.1718C>G c.(1717-1719)aCa>aGa p.T573R NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 573 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CTCTCCACTTGTCTGAATTTT 0.373000 17 88 0 0 0.00121646 0 0 CYP4F11 57834 broad.mit.edu 37 19 16035624 16035624 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr19:16035624C>A ENST00000326742.7 - 5 595 c.594G>T c.(592-594)atG>atT p.M198I CYP4F11_ENST00000402119.3_Missense_Mutation_p.M198I|CYP4F11_ENST00000248041.7_Missense_Mutation_p.M198I Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 198 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTCCAAGGTCATGAGGCTGA 0.537000 21 81 9.95505e-16 6.13647e-15 0.000295444 1 0 CAMTA1 23261 broad.mit.edu 37 1 7700570 7700570 + Silent SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:7700570G>A ENST00000303635.7 + 7 828 c.621G>A c.(619-621)gcG>gcA p.A207A CAMTA1_ENST00000439411.2_Silent_p.A207A NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) AGGAGTGGGCGAAATGGACGA 0.627000 T WWTR1 epitheliod hemangioendothelioma 27 73 0 0 0.001512 0 0 PPIG 9360 broad.mit.edu 37 2 170489767 170489767 + Missense_Mutation SNP T T A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr2:170489767T>A ENST00000462903.1 + 12 1207 c.1027T>A c.(1027-1029)Tct>Act p.S343T PPIG_ENST00000448752.2_Intron|PPIG_ENST00000482772.1_Intron|PPIG_ENST00000260970.3_Intron|PPIG_ENST00000409714.3_Intron Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 0 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) GGTAGGTGATTCTTTCCCCAG 0.358000 9 45 0 0 0.000442599 0 0 OR10J3 441911 broad.mit.edu 37 1 159283480 159283480 + Missense_Mutation SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:159283480C>T ENST00000332217.5 - 1 969 c.970G>A c.(970-972)Gcg>Acg p.A324T NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TTTATAAACGCAAAGGAAAAG 0.393000 15 65 0 0 0.000308642 0 0 UTRN 7402 broad.mit.edu 37 6 144875916 144875916 + Missense_Mutation SNP T T C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:144875916T>C ENST00000367545.3 + 48 7021 c.7021T>C c.(7021-7023)Tgg>Cgg p.W2341R NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2341 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAGTCTTCAGTGGGATGACCA 0.493000 4 67 0 0 0.00024832 0 0 CDH7 1005 broad.mit.edu 37 18 63526954 63526954 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr18:63526954A>G ENST00000536984.2 + 10 2199 c.1505A>G c.(1504-1506)aAa>aGa p.K502R CDH7_ENST00000323011.3_Missense_Mutation_p.K502R|CDH7_ENST00000397968.2_Missense_Mutation_p.K502R Q9ULB5 CADH7_HUMAN cadherin 7, type 2 502 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTTATCCAGAAAATCAGTGCT 0.363000 6 23 0 0 0.00116845 0 0 FAM155B 27112 broad.mit.edu 37 X 68725635 68725635 + Missense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chrX:68725635C>A ENST00000252338.4 + 1 552 c.510C>A c.(508-510)gaC>gaA p.D170E NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 170 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 GGCCCCCTGACTCCCTTTCCC 0.592000 11 34 6.40141e-05 0.000357268 0.000978159 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 11 0 0 6.4e-05 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:140237249G>C ENST00000307360.5 + 1 1616 c.1616G>C c.(1615-1617)gGg>gCg p.G539A PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 p.G539A(2) NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687000 5 148 0 0 0.000602214 0 0 CHEK2 11200 broad.mit.edu 37 22 29091782 29091782 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr22:29091782G>A ENST00000544772.1 - 12 1948 c.512C>T c.(511-513)gCg>gTg p.A171V CHEK2_ENST00000328354.6_Missense_Mutation_p.A392V|CHEK2_ENST00000382578.1_Missense_Mutation_p.A301V|CHEK2_ENST00000404276.1_Missense_Mutation_p.A392V|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.A301V|CHEK2_ENST00000382580.2_Missense_Mutation_p.A435V|CHEK2_ENST00000348295.3_Missense_Mutation_p.A363V|CHEK2_ENST00000405598.1_Missense_Mutation_p.A392V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.A363V NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 392 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AACTTCAGGCGCCAAGTAGGT 0.428000 F breast Direct reversal of damage;Other conserved DNA damage response genes 15 55 0 0 0.000958276 0 0 ZBTB37 84614 broad.mit.edu 37 1 173842711 173842711 + Missense_Mutation SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:173842711A>G ENST00000432989.1 + 4 1303 c.1030A>G c.(1030-1032)Agt>Ggt p.S344G ZBTB37_ENST00000367702.1_Missense_Mutation_p.S344G|ZBTB37_ENST00000367704.1_Intron|ZBTB37_ENST00000427304.1_Intron|ZBTB37_ENST00000367701.4_Intron NM_032522.3 NP_115911.1 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 CCAGGTATGGAGTTGTGGATT 0.473000 8 29 0 0 0.000442599 0 0 FCHSD1 89848 broad.mit.edu 37 5 141030648 141030648 + Nonsense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:141030648C>A ENST00000435817.2 - 2 108 c.58G>T c.(58-60)Gaa>Taa p.E20* FCHSD1_ENST00000522126.1_5'UTR|FCHSD1_ENST00000522783.1_Nonsense_Mutation_p.E20*|FCHSD1_ENST00000519800.1_Nonsense_Mutation_p.E20* NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 20 FCH. FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGCTGTTCCAGGAAGCGA 0.587000 5 6 0.00116845 0.00626712 0.00116845 1 0 ANKRD34A 284615 broad.mit.edu 37 1 145474307 145474307 + Missense_Mutation SNP T T G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr1:145474307T>G ENST00000323397.4 + 4 2272 c.979T>G c.(979-981)Tca>Gca p.S327A NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 327 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGTCCCCCTTCAGGGCTGAG 0.647000 14 24 0 0 0.000308642 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62820921 62820921 + RNA SNP C C T TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr17:62820921C>T ENST00000582986.1 - 0 188 NR_024386.1 TCACTAGTGACCACCATGTCC 0.562000 8 48 0 0 0.000157383 0 0 RPAP1 26015 broad.mit.edu 37 15 41813100 41813100 + Missense_Mutation SNP G G A rs138581766 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr15:41813100G>A ENST00000304330.4 - 22 3400 c.3284C>T c.(3283-3285)cCg>cTg p.P1095L RPAP1_ENST00000561603.1_Intron NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1095 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGGCAGCAGCGGCTCCGTAGG 0.662000 7 54 0 0 8.12818e-05 0 0 SORCS1 114815 broad.mit.edu 37 10 108337011 108337011 + Missense_Mutation SNP T T C TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr10:108337011T>C ENST00000344440.6 - 27 3564 c.3565A>G c.(3565-3567)Aca>Gca p.T1189A SORCS1_ENST00000263054.6_3'UTR|SORCS1_ENST00000369698.1_3'UTR NM_001013031.2|NM_001206569.1|NM_001206571.1|NM_001206572.1 NP_001013049.1|NP_001193498.1|NP_001193500.1|NP_001193501.1 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 0 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATTTCTTTTGTGCTTTGATTC 0.313000 23 57 0 0 0.000720815 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208417 65208417 + Missense_Mutation SNP G G A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr14:65208417G>A ENST00000247226.7 + 14 2322 c.2014G>A c.(2014-2016)Gaa>Aaa p.E672K PLEKHG3_ENST00000492928.1_3'UTR|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.E233K|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.E261K|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.E728K NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 728 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TGAAAATGCAGAACACCATGA 0.527000 36 92 0 0 0.00111076 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202657 140202658 + Frame_Shift_Ins INS - - A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr5:140202657_140202658insA ENST00000529859.1 + 1 1297_1298 c.1297_1298insA c.(1297-1299)gctfs p.A433fs PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Frame_Shift_Ins_p.A433fs|PCDHA5_ENST00000378126.3_Frame_Shift_Ins_p.A433fs|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTCGCCTTCGCTGTGGGCC 0.639 44 141 --- --- --- --- FAM184A 79632 broad.mit.edu 37 6 119324685 119324686 + Frame_Shift_Ins INS - - A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:119324685_119324686insA ENST00000338891.7 - 8 2360_2361 c.1917_1918insT c.(1915-1920)atagtgfs p.V640fs RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Frame_Shift_Ins_p.V640fs|FAM184A_ENST00000368475.4_Frame_Shift_Ins_p.V520fs|FAM184A_ENST00000352896.5_Frame_Shift_Ins_p.V520fs NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 640 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TCAGTCCACTTAATTTCTAAGT 0.347 24 50 --- --- --- --- MAP3K4 4216 broad.mit.edu 37 6 161413044 161413045 + In_Frame_Ins INS - - CCG TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr6:161413044_161413045insCCG ENST00000392142.4 + 1 229_230 c.81_82insCCG c.(79-84)cccgcc>ccCCGcgcc p.27_28PA>PRA MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 27 Poly-Pro. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) Agccgccgccaccgccgccgcc 0.738 4 4 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55249017 55249018 + In_Frame_Ins INS - - CCA rs121913445 TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr7:55249017_55249018insCCA ENST00000275493.2 + 20 2492_2493 c.2315_2316insCCA c.(2314-2316)cca>cCCAca p.772_773insT EGFR_ENST00000455089.1_In_Frame_Ins_p.727_728insT|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Ins_p.719_720insT|EGFR-AS1_ENST00000442411.1_RNA NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 772 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.P772_H773insV(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772P(1)|p.P772R(1)|p.D770_P772>ASVDNR(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GTGGACAACCCCCACGTGTGCC 0.644 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 129 166 --- --- --- --- PPAPDC1A 196051 broad.mit.edu 37 10 122280537 122280539 + In_Frame_Del DEL AAT AAT - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr10:122280537_122280539delAAT ENST00000398250.1 + 5 727_729 c.375_377delAAT c.(373-378)gag>ga p.EM125del PPAPDC1A_ENST00000369073.3_In_Frame_Del_p.EM115del|PPAPDC1A_ENST00000439221.1_Intron|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_In_Frame_Del_p.EM125del NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 125 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TGAACTCGGAAATGCATTGCACA 0.493 20 42 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711145 6711147 + In_Frame_Del DEL TCC TCC - rs71584865 byFrequency TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr12:6711145_6711147delTCC ENST00000309577.6 - 4 580_582 c.417_419delGGA c.(415-420)gat>ga p.ED139del CHD4_ENST00000544484.1_In_Frame_Del_p.ED136del|CHD4_ENST00000544040.1_In_Frame_Del_p.ED132del|CHD4_ENST00000357008.2_In_Frame_Del_p.ED139del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 139 Poly-Asp. E -> D (in dbSNP:rs1639122). chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ATCATCATCAtcctcctcctcct 0.453 7 45 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95818595 95818595 + Frame_Shift_Del DEL G G - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr13:95818595delG ENST00000376887.4 - 15 1965 c.1851delC c.(1849-1851)tafs p.Y617fs ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Frame_Shift_Del_p.Y542fs|ABCC4_ENST00000412704.1_Frame_Shift_Del_p.Y617fs|ABCC4_ENST00000431522.1_Frame_Shift_Del_p.Y617fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 617 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGAACTCAGTGTAAGTCCCCT 0.368 9 57 --- --- --- --- SLC7A5 8140 broad.mit.edu 37 16 87870213 87870213 + Frame_Shift_Del DEL A A - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr16:87870213delA ENST00000261622.4 - 8 1246 c.1181delT c.(1180-1182)tcfs p.F394fs RP4-536B24.2_ENST00000563687.1_RNA|SLC7A5_ENST00000565644.1_Frame_Shift_Del_p.F128fs NM_003486.5 NP_003477.4 Q01650 LAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 5 394 blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development apical plasma membrane|cytosol|integral to membrane neutral amino acid transmembrane transporter activity|peptide antigen binding endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(80;0.049) GATGACGGAGAAGATGTCCTT 0.612 12 34 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 7 78 --- --- --- --- TTC3 7267 broad.mit.edu 37 21 38555171 38555180 + Frame_Shift_Del DEL ATCACTGAAG ATCACTGAAG - TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc6185f2-f1ea-43ea-8d4f-3b121949d06f 20683d9f-102f-4976-985f-97162ae99514 g.chr21:38555171_38555180delATCACTGAAG ENST00000399017.2 + 36 7460_7469 c.4713_4722delATCACTGAAG c.(4711-4722)aafs p.KSLK1571fs TTC3_ENST00000355666.1_Frame_Shift_Del_p.KSLK1571fs|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Frame_Shift_Del_p.KSLK1571fs NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1571 Arg/Lys-rich (basic). protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAAGACTAAAATCACTGAAGAAGAAAATTA 0.271 9 34 --- --- --- ---