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 PRDM16 63976 broad.mit.edu 37 1 3328822 3328822 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:3328822C>T ENST00000378398.3 + 10 2146 c.2064C>T c.(2062-2064)ggC>ggT p.G688G PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000270722.5_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.G688G Q9HAZ2 PRD16_HUMAN PR domain containing 16 687 Interaction with CTBP1 and CTBP2 (By similarity). brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CTGCAACGGGCGCCGCCGGGG 0.657 T EVI1 """MDS, AML""" 18 43 --- --- --- --- RNF186 54546 broad.mit.edu 37 1 20141158 20141158 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:20141158C>T ENST00000375121.2 - 1 613 c.437G>A c.(436-438)aGt>aAt p.S146N RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 146 integral to membrane zinc ion binding kidney(1)|lung(3)|urinary_tract(1) 5 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTGGTTTGCACTTACTTCATC 0.607 5 80 --- --- --- --- SZT2 23334 broad.mit.edu 37 1 43888957 43888957 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:43888957T>C ENST00000562955.1 + 15 2225 c.2225T>C c.(2224-2226)cTg>cCg p.L742P SZT2_ENST00000372442.1_5'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 742 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTTGTGGTCCTGCATAAGCCA 0.627 3 31 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968071 114968071 + Splice_Site SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:114968071C>T ENST00000358465.2 - 9 1778 c.1695G>A c.(1693-1695)caG>caA p.Q565Q TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q|TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 565 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CGATACTTACCTGTTGTTGTA 0.383 T RET papillary thyroid 42 85 --- --- --- --- SHE 126669 broad.mit.edu 37 1 154459160 154459160 + Splice_Site SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:154459160C>G ENST00000304760.2 - 4 1111 c.e4-1 NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TCAAACTGGACTGGAAGGAAG 0.542 23 20 --- --- --- --- CD5L 922 broad.mit.edu 37 1 157804238 157804238 + Missense_Mutation SNP T T G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr1:157804238T>G ENST00000368174.4 - 4 773 c.677A>C c.(676-678)aAc>aCc p.N226T NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 226 SRCR 2. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTTGCAGGTGTTCTTCCCCCA 0.493 25 20 --- --- --- --- SMEK2 57223 broad.mit.edu 37 2 55825874 55825874 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:55825874C>G ENST00000272313.5 - 4 926 c.599G>C c.(598-600)gGa>gCa p.G200A SMEK2_ENST00000345102.5_Missense_Mutation_p.G200A|SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 200 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GAATAAGATTCCTCTAATAAT 0.373 23 53 --- --- --- --- MAP2 4133 broad.mit.edu 37 2 210559664 210559664 + Missense_Mutation SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:210559664A>G ENST00000360351.4 + 7 3276 c.2770A>G c.(2770-2772)Aga>Gga p.R924G MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 924 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGCAGCCGGAAGAGTCAAAGA 0.453 8 43 --- --- --- --- SAG 6295 broad.mit.edu 37 2 234237211 234237211 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr2:234237211C>G ENST00000409110.1 + 8 830 c.600C>G c.(598-600)ttC>ttG p.F200L SAG_ENST00000449594.2_Missense_Mutation_p.F66L NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 200 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CCTGGCAGTTCTTCATGTCTG 0.602 13 40 --- --- --- --- RTP1 132112 broad.mit.edu 37 3 186917361 186917361 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr3:186917361C>T ENST00000312295.4 + 2 325 c.295C>T c.(295-297)Cac>Tac p.H99Y RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 99 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CTGGTGCTGGCACACCTGGCA 0.647 34 57 --- --- --- --- FGA 2243 broad.mit.edu 37 4 155507284 155507284 + Missense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr4:155507284G>T ENST00000302053.3 - 5 1375 c.1297C>A c.(1297-1299)Ctg>Atg p.L433M FGA_ENST00000403106.3_Missense_Mutation_p.L433M NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 433 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GAAGTGACCAGTTTTTCTGTG 0.498 34 65 --- --- --- --- SNX25 83891 broad.mit.edu 37 4 186241903 186241903 + Missense_Mutation SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr4:186241903A>G ENST00000504273.1 + 8 1163 c.869A>G c.(868-870)gAt>gGt p.D290G SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G Q9H3E2 SNX25_HUMAN sorting nexin 25 290 RGS. cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CAGTTTGAAGATATCTTGGCC 0.328 20 35 --- --- --- --- LSM11 134353 broad.mit.edu 37 5 157181082 157181082 + Missense_Mutation SNP T T G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr5:157181082T>G ENST00000286307.5 + 3 715 c.659T>G c.(658-660)cTg>cGg p.L220R NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 220 histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATTCTTCACTGACTCTCACT 0.473 30 21 --- --- --- --- ZNF76 7629 broad.mit.edu 37 6 35259145 35259145 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr6:35259145C>T ENST00000373953.3 + 8 982 c.716C>T c.(715-717)tCa>tTa p.S239L ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 239 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 TTCAAGACCTCAGGAGACCTG 0.552 12 7 --- --- --- --- PKD1L1 168507 broad.mit.edu 37 7 47920335 47920335 + Missense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:47920335C>A ENST00000289672.2 - 21 3561 c.3511G>T c.(3511-3513)Gtg>Ttg p.V1171L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1171 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CCCACAGACACTTGCAGGACG 0.473 6 55 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48280530 48280530 + Nonsense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:48280530G>T ENST00000435803.1 + 10 1153 c.1129G>T c.(1129-1131)Gag>Tag p.E377* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 377 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CCATAGTCTGGAGGCTCTCAG 0.493 23 38 --- --- --- --- PPP1R3A 5506 broad.mit.edu 37 7 113558913 113558913 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:113558913C>G ENST00000284601.3 - 1 207 c.139G>C c.(139-141)Gat>Cat p.D47H NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 47 glycogen metabolic process integral to membrane p.D47Y(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TCAGAAGAATCAGAACCTCGT 0.368 17 129 --- --- --- --- CADPS2 93664 broad.mit.edu 37 7 122111518 122111518 + Silent SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:122111518C>G ENST00000334010.7 - 13 2521 c.2100G>C c.(2098-2100)ctG>ctC p.L700L CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000449022.2_Silent_p.L699L NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 699 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 AATGTTCCATCAGTTCTGCAA 0.478 11 15 --- --- --- --- CNOT4 4850 broad.mit.edu 37 7 135106950 135106950 + Missense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:135106950G>T ENST00000428680.2 - 3 606 c.327C>A c.(325-327)aaC>aaA p.N109K CNOT4_ENST00000361528.4_Missense_Mutation_p.N109K|CNOT4_ENST00000356162.4_Missense_Mutation_p.N109K|CNOT4_ENST00000541284.1_Missense_Mutation_p.N109K|CNOT4_ENST00000414802.1_Missense_Mutation_p.N109K|CNOT4_ENST00000451834.1_Missense_Mutation_p.N109K|CNOT4_ENST00000315544.5_Missense_Mutation_p.N109K|CNOT4_ENST00000423368.2_Missense_Mutation_p.N109K NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 109 RRM. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 CAAAGACGAGGTTTTTTTGTA 0.353 42 54 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151845693 151845693 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr7:151845693T>C ENST00000355193.2 - 53 13708 c.13490A>G c.(13489-13491)tAt>tGt p.Y4497C KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C lysine (K)-specific methyltransferase 2C p.Y4497C(1)|p.Y4440C(1) CTGAGTCTCATAGACCTCCGT 0.507 45 68 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74529544 74529544 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr8:74529544G>A ENST00000355780.5 - 6 675 c.457C>T c.(457-459)Cca>Tca p.P153S STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000524300.1_Missense_Mutation_p.P185S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 185 DRBM 2. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GATCTTTCTGGAATAGGTTCA 0.398 10 30 --- --- --- --- DNA2 1763 broad.mit.edu 37 10 70196776 70196776 + Silent SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr10:70196776T>C ENST00000399180.2 - 10 1895 c.1896A>G c.(1894-1896)ttA>ttG p.L632L DNA2_ENST00000399179.2_Silent_p.L546L|DNA2_ENST00000358410.3_Silent_p.L546L P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 546 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 ACCTGTCTAATAAACAAGTTA 0.333 46 59 --- --- --- --- CYP2C19 1557 broad.mit.edu 37 10 96540343 96540343 + Missense_Mutation SNP A A C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr10:96540343A>C ENST00000371321.3 + 4 651 c.569A>C c.(568-570)aAa>aCa p.K190T CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 190 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTCGATTATAAAGATCAGCAA 0.418 101 88 --- --- --- --- SOX6 55553 broad.mit.edu 37 11 16117662 16117662 + Silent SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:16117662C>T ENST00000352083.6 - 9 1058 c.981G>A c.(979-981)aaG>aaA p.K327K SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000316399.6_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000396356.3_Silent_p.K327K P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 327 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 AGACATGACCCTTCTGTTTAG 0.398 26 41 --- --- --- --- DBX1 120237 broad.mit.edu 37 11 20178066 20178066 + Silent SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:20178066G>A ENST00000524983.2 - 4 1014 c.726C>T c.(724-726)cgC>cgT p.R242R DBX1_ENST00000227256.3_Silent_p.R281R A6NMT0 DBX1_HUMAN developing brain homeobox 1 242 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 ACAGGAGTTCGCGCTCCTTGG 0.622 13 33 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92592421 92592421 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:92592421G>A ENST00000298047.6 + 20 11608 c.11591G>A c.(11590-11592)cGt>cAt p.R3864H FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3864 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTAGCTCTGCGTCTTCGAACA 0.393 TCGA Ovarian(4;0.039) 16 15 --- --- --- --- HSPA8 3312 broad.mit.edu 37 11 122930210 122930210 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr11:122930210T>C ENST00000534624.1 - 5 1367 c.1091A>G c.(1090-1092)aAc>aGc p.N364S HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 364 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TTCATCAGGGTTGATGCTCTT 0.438 13 112 --- --- --- --- DDX23 9416 broad.mit.edu 37 12 49225958 49225958 + Missense_Mutation SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr12:49225958A>G ENST00000308025.3 - 15 2046 c.1967T>C c.(1966-1968)cTg>cCg p.L656P NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 656 Helicase C-terminal. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CAAGATTGCCAGCAGCTTTTT 0.483 24 52 --- --- --- --- NPAP1 23742 broad.mit.edu 37 15 24924310 24924310 + Missense_Mutation SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr15:24924310G>T ENST00000329468.2 + 1 3770 c.3296G>T c.(3295-3297)tGc>tTc p.C1099F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CAGAATTCATGCAGTGGTATG 0.507 69 101 --- --- --- --- GRIN2A 2903 broad.mit.edu 37 16 10031896 10031896 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr16:10031896C>G ENST00000396573.2 - 4 1236 c.927G>C c.(925-927)aaG>aaC p.K309N GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 309 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTAGGAGAACTTCTCCAGCA 0.572 6 37 --- --- --- --- GPR139 124274 broad.mit.edu 37 16 20043950 20043950 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr16:20043950T>C ENST00000570682.1 - 2 469 c.169A>G c.(169-171)Aga>Gga p.R57G NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 57 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TTCTGTCTTCTTGCCACCAGC 0.458 13 21 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72828630 72828630 + Nonsense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr16:72828630C>A ENST00000268489.5 - 9 8623 c.7951G>T c.(7951-7953)Gaa>Taa p.E2651* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2651 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 p.E2651Q(1) 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) TCTAGTTGTTCCGGTGTGATG 0.498 10 318 --- --- --- --- OR3A1 4994 broad.mit.edu 37 17 3195619 3195619 + Silent SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:3195619A>G ENST00000323404.1 - 1 257 c.258T>C c.(256-258)agT>agC p.S86S RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 ACAGGAGACGACTCAACATTG 0.562 15 8 --- --- --- --- MYBBP1A 10514 broad.mit.edu 37 17 4457112 4457112 + Missense_Mutation SNP A A T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:4457112A>T ENST00000254718.4 - 5 860 c.554T>A c.(553-555)cTc>cAc p.L185H MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 185 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TACCTCGGAGAGGATGTCCAC 0.592 28 8 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577570 7577570 + Missense_Mutation SNP C C T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:7577570C>T ENST00000420246.2 - 7 843 c.711G>A c.(709-711)atG>atA p.M237I TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 237 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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) AACTGTTACACATGTAGTTGT 0.567 111 """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) 27 9 --- --- --- --- BRIP1 83990 broad.mit.edu 37 17 59760933 59760933 + Missense_Mutation SNP C C A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr17:59760933C>A ENST00000259008.2 - 20 3741 c.3474G>T c.(3472-3474)ttG>ttT p.L1158F NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1158 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 AATTGTTAGCCAATCTATTTC 0.333 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 17 47 --- --- --- --- JAK3 3718 broad.mit.edu 37 19 17950368 17950368 + Silent SNP G G T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr19:17950368G>T ENST00000458235.1 - 10 1458 c.1359C>A c.(1357-1359)ctC>ctA p.L453L JAK3_ENST00000527670.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.L453L NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 453 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AGGTTGCCAGGAGCTCTCGAA 0.627 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 6 --- --- --- --- JAK3 3718 broad.mit.edu 37 19 17950369 17950369 + Missense_Mutation SNP A A T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr19:17950369A>T ENST00000458235.1 - 10 1457 c.1358T>A c.(1357-1359)cTc>cAc p.L453H JAK3_ENST00000527670.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.L453H NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 453 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGTTGCCAGGAGCTCTCGAAG 0.627 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 5 6 --- --- --- --- ZNF160 90338 broad.mit.edu 37 19 53573131 53573131 + Missense_Mutation SNP G G A TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr19:53573131G>A ENST00000601421.1 - 3 1424 c.548C>T c.(547-549)cCa>cTa p.P183L ZNF160_ENST00000429604.1_Missense_Mutation_p.P219L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L Q9HCG1 ZN160_HUMAN zinc finger protein 160 219 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TTGTTGAAGTGGTGACACTGA 0.383 24 110 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29438481 29438481 + Splice_Site SNP A A G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chr22:29438481A>G ENST00000544604.2 + 3 601 c.e3-1 ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TAACTCTGGCAGGCCAAGCGA 0.493 17 15 --- --- --- --- MXRA5 25878 broad.mit.edu 37 X 3227766 3227766 + Missense_Mutation SNP G G C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrX:3227766G>C ENST00000217939.6 - 7 8632 c.8478C>G c.(8476-8478)caC>caG p.H2826Q NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2826 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTCAGAAGACGTGGATGTAAG 0.458 14 2 --- --- --- --- WDR13 64743 broad.mit.edu 37 X 48458010 48458010 + Missense_Mutation SNP A A T TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrX:48458010A>T ENST00000218056.5 + 4 933 c.428A>T c.(427-429)gAg>gTg p.E143V WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.E143V NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 143 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 TCAGCAGCAGAGGCAAGTCGG 0.602 34 12 --- --- --- --- AMOT 154796 broad.mit.edu 37 X 112022741 112022741 + Missense_Mutation SNP T T C TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89ca12c1-faae-41ce-9e9d-26c63aec6dc9 e288a257-57d7-4ddb-b99e-aff289bcc4be g.chrX:112022741T>C ENST00000371959.3 - 10 2640 c.2641A>G c.(2641-2643)Atc>Gtc p.I881V AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000524145.1_Missense_Mutation_p.I881V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 881 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 ggaacagagatgggagcaaca 0.597 14 4 --- --- --- ---