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 RGS7 6000 broad.mit.edu 37 1 241099995 241099995 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:241099995G>T ENST00000366565.1 - 5 619 c.238C>A c.(238-240)Cat>Aat p.H80N RGS7_ENST00000366564.1_Missense_Mutation_p.H80N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.H80N|RGS7_ENST00000366562.4_Missense_Mutation_p.H80N|RGS7_ENST00000366563.1_Missense_Mutation_p.H80N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Missense_Mutation_p.H54N NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 80 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTTCCCAAATGGAGCGCCTCC 0.388000 8 65 0.00307968 0.00328386 1 1 0 DGKA 1606 broad.mit.edu 37 12 56334184 56334184 + Silent SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:56334184G>T ENST00000331886.5 + 11 1339 c.885G>T c.(883-885)ctG>ctT p.L295L DGKA_ENST00000551156.1_Silent_p.L295L|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.L295L NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 295 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) ACCACAGTCTGACCGGGCTGC 0.602000 OREG0021913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 110 0.000978159 0.0010488 1 1 0 AGFG2 3268 broad.mit.edu 37 7 100161551 100161551 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:100161551C>T ENST00000300176.4 + 10 1388 c.1266C>T c.(1264-1266)ttC>ttT p.F422F AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 422 Pro-rich. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACCGCTGTTCCCCCCGCAGA 0.597000 OREG0018204 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 116 0 0 1 0 0 YWHAQ 10971 broad.mit.edu 37 2 9725446 9725446 + Missense_Mutation SNP T T A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:9725446T>A ENST00000381844.4 - 5 870 c.707A>T c.(706-708)gAa>gTa p.E236V YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.E236V P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 236 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) CGCATCACATTCTTCTCCTGC 0.368000 5 64 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132405861 132405861 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:132405861C>T ENST00000321867.4 + 28 3459 c.3108C>T c.(3106-3108)tgC>tgT p.C1036C ULK1_ENST00000540647.1_Silent_p.C281C NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 1036 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GCAAGCTGTGCATTGAGCGGA 0.667000 11 161 0 0 1 0 0 RCC1 1104 broad.mit.edu 37 1 28858316 28858316 + Splice_Site SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:28858316C>T ENST00000373833.6 + 6 360 c.73_splice c.e6-1 p.V25_splice RCC1_ENST00000373831.3_Splice_Site_p.V56_splice|RCC1_ENST00000373832.1_Splice_Site_p.V25_splice|RCC1_ENST00000398958.2_Splice_Site_p.V25_splice P18754 RCC1_HUMAN regulator of chromosome condensation 1 25 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) ACCCTTCAGTCTCACACAGGT 0.587000 13 48 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102516442 102516442 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr14:102516442C>T ENST00000360184.4 + 77 13883 c.13719C>T c.(13717-13719)aaC>aaT p.N4573N RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4573 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GCAACAACAACAAGCTGTCAC 0.552000 15 77 0 0 1 0 0 BTN3A1 11119 broad.mit.edu 37 6 26413558 26413558 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:26413558A>G ENST00000289361.6 + 10 1548 c.1180A>G c.(1180-1182)Aga>Gga p.R394G BTN3A1_ENST00000414912.2_Missense_Mutation_p.R342G NM_001145008.1|NM_001145009.1|NM_007048.5 NP_001138480.1|NP_001138481.1|NP_008979.3 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 394 B30.2/SPRY. lipid metabolic process integral to membrane breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 CATATCAGGGAGACATTACTG 0.507000 7 118 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439539 145439539 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:145439539C>G ENST00000511217.1 + 8 1718 c.1666C>G c.(1666-1668)Cca>Gca p.P556A SH3RF2_ENST00000359120.4_Missense_Mutation_p.P556A|SH3RF2_ENST00000511705.1_3'UTR Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 556 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTCTACCAGCCACAGGGGAT 0.672000 8 104 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179526101 179526101 + Missense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:179526101C>A ENST00000467460.1 - 13 1807 c.1477G>T c.(1477-1479)Gca>Tca p.A493S PEX5L_ENST00000465751.1_Missense_Mutation_p.A469S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434S NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 493 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GCATCTATTGCTCTATTAAAT 0.453000 5 58 0.184627 0.185589 1 1 0 TAAR9 134860 broad.mit.edu 37 6 132859943 132859943 + RNA SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:132859943C>G ENST00000434551.1 + 0 515 NM_175057.3 NP_778227.3 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 (gene/pseudogene) plasma membrane G-protein coupled receptor activity Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) TACACGGGAGCCAACGAAGAA 0.428000 6 117 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46099269 46099269 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:46099269G>C ENST00000295452.4 - 2 369 c.202C>G c.(202-204)Ctg>Gtg p.L68V NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 68 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) AATGAATTCAGAATTTGTGTG 0.378000 20 74 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150416662 150416662 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:150416662G>T ENST00000295910.6 - 3 521 c.469C>A c.(469-471)Cat>Aat p.H157N FAM194A_ENST00000491361.1_Missense_Mutation_p.H11N NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 157 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AAATTGCGATGAATATTTCTG 0.318000 12 105 1.08611e-07 1.24035e-07 1 1 0 UBXN11 91544 broad.mit.edu 37 1 26609384 26609384 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:26609384C>T ENST00000314675.7 - 9 841 c.762G>A c.(760-762)gaG>gaA p.E254E UBXN11_ENST00000374217.2_Silent_p.E341E|UBXN11_ENST00000374221.3_Silent_p.E374E|UBXN11_ENST00000374222.1_Silent_p.E374E|UBXN11_ENST00000374223.1_Silent_p.E131E|UBXN11_ENST00000357089.4_Silent_p.E341E NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 374 SEP. cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 AGGTGGGCGTCTCCACCACAA 0.647000 17 61 0 0 1 0 0 PRKY 5616 broad.mit.edu 37 Y 7172080 7172080 + RNA SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chrY:7172080A>G ENST00000528056.1 + 0 610 NR_028062.1 large_intestine(2)|lung(3)|skin(1) 6 CGCCGGAAGCAGGAGCAGCAC 0.597000 8 67 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:7577141C>T ENST00000420246.2 - 8 929 c.797G>A c.(796-798)gGa>gAa p.G266E TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) GCTGTTCCGTCCCAGTAGATT 0.517000 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) 5 24 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28408263 28408263 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr15:28408263C>T ENST00000261609.7 - 69 10831 c.10723G>A c.(10723-10725)Ggc>Agc p.G3575S NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3575 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTCCCCATGCCGGAAAGCACC 0.647000 11 65 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14034231 14034231 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:14034231A>G ENST00000318003.7 + 15 1968 c.1727A>G c.(1726-1728)tAt>tGt p.Y576C CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y576C NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 576 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GCCCGGCGCTATGGTGAACTC 0.682000 9 88 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63996766 63996766 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:63996766C>T ENST00000279206.3 + 4 783 c.627C>T c.(625-627)atC>atT p.I209I RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Silent_p.I176I NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 209 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 TGTTGGGCATCGCCCGAAATG 0.632000 3 12 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57556243 57556243 + Silent SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:57556243G>T ENST00000243077.3 + 14 2812 c.2346G>T c.(2344-2346)ctG>ctT p.L782L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 782 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACCCTTCTGCGCAGTGAGC 0.617000 12 96 1.5842e-08 1.84187e-08 1 1 0 GTF3C5 9328 broad.mit.edu 37 9 135933278 135933278 + Nonsense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr9:135933278G>T ENST00000372097.5 + 11 1794 c.1471G>T c.(1471-1473)Gag>Tag p.E491* GTF3C5_ENST00000372108.5_Nonsense_Mutation_p.E498*|GTF3C5_ENST00000372099.6_Nonsense_Mutation_p.E482*|GTF3C5_ENST00000342018.8_Nonsense_Mutation_p.E429* NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 491 Glu-rich.|Poly-Glu. transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) cgaggaggatgaggaggagga 0.577000 9 52 0.010729 0.011193 1 1 0 TRIM50 135892 broad.mit.edu 37 7 72738498 72738498 + Silent SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:72738498G>C ENST00000333149.2 - 2 488 c.288C>G c.(286-288)ctC>ctG p.L96L TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Silent_p.L96L NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 96 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 AGAAAAGGCTGAGCGGGTTCC 0.667000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 116 0 0 1 0 0 MIR124-2HG 100130155 broad.mit.edu 37 8 65291711 65291711 + RNA SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:65291711G>C ENST00000521441.1 + 0 655 MIR124-2_ENST00000385081.1_RNA TCCGGATCAAGATTAGAGGCT 0.517000 4 47 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1550120 1550120 + Silent SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr16:1550120G>T ENST00000262319.6 + 7 1236 c.957G>T c.(955-957)ctG>ctT p.L319L NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 319 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) AGAGCCTGCTGGGCCATCTGG 0.697000 5 21 1.024e-07 1.17638e-07 1 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49967959 49967959 + Missense_Mutation SNP A A T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:49967959A>T ENST00000293350.4 + 12 1671 c.1508A>T c.(1507-1509)tAt>tTt p.Y503F ALDH16A1_ENST00000455361.2_Missense_Mutation_p.Y452F|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.Y340F|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.Y338F NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 503 oxidoreductase activity|protein binding p.Y503C(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) AACCTGAACTATGACACCTTT 0.622000 29 227 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79655791 79655791 + Missense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:79655791C>A ENST00000275034.4 - 38 4724 c.4557G>T c.(4555-4557)gaG>gaT p.E1519D PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1519 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TAGATGGTTGCTCAGTGACAA 0.408000 14 75 1.49906e-05 1.67236e-05 1 1 0 AQP9 366 broad.mit.edu 37 15 58471425 58471425 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr15:58471425C>T ENST00000219919.4 + 5 964 c.594C>T c.(592-594)ctC>ctT p.L198L ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Silent_p.L198L|AQP9_ENST00000558772.1_Silent_p.L133L NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 198 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) CCATCGGCCTCCTGATTATTG 0.547000 8 62 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148529746 148529746 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:148529746G>A ENST00000320356.2 - 4 464 c.343C>T c.(343-345)Ccc>Tcc p.P115S EZH2_ENST00000483967.1_Missense_Mutation_p.P106S|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000478654.1_Missense_Mutation_p.P106S|EZH2_ENST00000541220.1_Missense_Mutation_p.P106S|EZH2_ENST00000460911.1_Missense_Mutation_p.P115S|EZH2_ENST00000476773.1_Missense_Mutation_p.P106S|EZH2_ENST00000536783.1_Missense_Mutation_p.P6S NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 115 Interaction with DNMT1, DNMT3A and DNMT3B. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TGCTGTAGGGGAGACCAAGAA 0.338000 Mis DLBCL 4 54 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94156479 94156479 + Nonsense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr14:94156479G>T ENST00000553484.1 + 47 7439 c.7285G>T c.(7285-7287)Gag>Tag p.E2429* UNC79_ENST00000393151.2_Nonsense_Mutation_p.E2407*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E2368*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E2230* Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2407 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGAATTCATTGAGTGTGTCTC 0.453000 12 80 0.000151284 0.000165897 1 1 0 PPL 5493 broad.mit.edu 37 16 4934533 4934533 + Missense_Mutation SNP T T A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr16:4934533T>A ENST00000345988.2 - 22 4212 c.4123A>T c.(4123-4125)Atc>Ttc p.I1375F PPL_ENST00000590782.2_Missense_Mutation_p.I1373F NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1375 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCCACATCGATGCTCTCGGCA 0.682000 14 218 0 0 1 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70958211 70958211 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:70958211C>T ENST00000359655.4 + 9 1167 c.1107C>T c.(1105-1107)tgC>tgT p.C369C NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 369 Helicase C-terminal. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGGGGACTGCATTGTCTGTT 0.428000 9 149 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232561533 232561533 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:232561533A>G ENST00000366630.1 - 17 4790 c.4432T>C c.(4432-4434)Tct>Cct p.S1478P SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S552P|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1478P Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 1478 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTCCTTGGAGACAGGTTCCCA 0.527000 4 21 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810593 65810593 + Silent SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:65810593G>T ENST00000312006.4 - 3 962 c.681C>A c.(679-681)ctC>ctA p.L227L GAL3ST3_ENST00000527878.1_Silent_p.L227L NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 227 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 CCTGGCGGATGAGGCCCGCCA 0.667000 14 50 7.93312e-07 9.00643e-07 1 1 0 SUV420H1 51111 broad.mit.edu 37 11 67957513 67957513 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:67957513C>T ENST00000304363.4 - 2 384 c.31G>A c.(31-33)Gtg>Atg p.V11M SUV420H1_ENST00000405515.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402789.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402185.2_Missense_Mutation_p.V11M|SUV420H1_ENST00000401547.2_Missense_Mutation_p.V11M NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 CCATTCACCACCATGATCTTG 0.458000 30 205 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79383343 79383343 + Silent SNP T T A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:79383343T>A ENST00000370742.3 - 12 1788 c.1725A>T c.(1723-1725)atA>atT p.I575I NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 575 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ATGCTGGTCCTATAAAACTCC 0.294000 3 23 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221869 55221869 + RNA SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:55221869C>T ENST00000413439.1 + 0 1415 CAGCCCCTCACCCATCCTTCT 0.632000 9 40 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11308556 11308556 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chrX:11308556T>C ENST00000380732.3 - 2 630 c.631A>G c.(631-633)Atg>Gtg p.M211V ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron O43182 RHG06_HUMAN Rho GTPase activating protein 6 196 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TCGGAATTCATCGGTGGTTTT 0.388000 12 54 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13658406 13658406 + Silent SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:13658406T>C ENST00000378572.3 + 9 961 c.801T>C c.(799-801)gaT>gaC p.D267D NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 267 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 AGGCAAATGATGCTTATCTTC 0.418000 7 61 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25463924 25463924 + RNA SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr15:25463924C>A ENST00000424208.1 + 0 2994 SNHG14_ENST00000453082.2_RNA NR_003305.1 GACCTGGGACCTGGTGGCTCT 0.592000 9 104 0.0477658 0.04852 1 1 0 POLR1E 64425 broad.mit.edu 37 9 37486629 37486629 + Silent SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr9:37486629C>G ENST00000377792.3 + 1 480 c.192C>G c.(190-192)gtC>gtG p.V64V POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 64 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) ACAGTCTAGTCCCACCgtaca 0.552000 4 56 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34791586 34791586 + Missense_Mutation SNP A A C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:34791586A>C ENST00000299505.6 + 2 1081 c.208A>C c.(208-210)Act>Cct p.T70P NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 70 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) CATGCCCCACACTACTCCTAT 0.622000 13 62 0 0 1 0 0 PRAME 23532 broad.mit.edu 37 22 22892727 22892727 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr22:22892727C>T ENST00000543184.1 - 4 1236 c.374G>A c.(373-375)cGg>cAg p.R125Q PRAME_ENST00000539862.1_Missense_Mutation_p.R109Q|PRAME_ENST00000402697.1_Missense_Mutation_p.R125Q|PRAME_ENST00000405655.3_Missense_Mutation_p.R125Q|PRAME_ENST00000424204.2_Missense_Mutation_p.R109Q|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000398743.2_Missense_Mutation_p.R125Q|PRAME_ENST00000398741.1_Missense_Mutation_p.R125Q NM_206953.1 NP_996836.1 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 125 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) AGAGTTCTTCCGTAAATCCAG 0.453000 5 84 0 0 1 0 0 XRRA1 143570 broad.mit.edu 37 11 74559263 74559263 + Missense_Mutation SNP C C G rs143922076 by1000genomes TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:74559263C>G ENST00000340360.6 - 15 1932 c.1601G>C c.(1600-1602)aGt>aCt p.S534T XRRA1_ENST00000527087.1_Missense_Mutation_p.S447T|XRRA1_ENST00000321448.8_Missense_Mutation_p.S259T NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 534 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GGTCTCTTCACTATGCACAGT 0.587000 11 37 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346522 29346522 + Silent SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr15:29346522G>A ENST00000558402.1 + 5 1034 c.435G>A c.(433-435)gcG>gcA p.A145A APBA2_ENST00000558330.1_Silent_p.A145A|APBA2_ENST00000411764.1_Silent_p.A145A|APBA2_ENST00000561069.1_Silent_p.A145A|APBA2_ENST00000558259.1_Silent_p.A145A Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 145 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CGGACTCGGCGGGCCCGCACC 0.672000 10 57 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61712984 61712984 + Missense_Mutation SNP A A T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:61712984A>T ENST00000423902.2 + 5 2755 c.2276A>T c.(2275-2277)tAc>tTc p.Y759F CHD7_ENST00000525508.1_Missense_Mutation_p.Y759F|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 759 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGAAAGCGCTACACTGAAGAC 0.478000 4 20 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2728467 2728467 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr18:2728467G>A ENST00000320876.6 + 23 3124 c.2786G>A c.(2785-2787)cGa>cAa p.R929Q SMCHD1_ENST00000261598.8_Missense_Mutation_p.R929Q|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 929 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 CACCCTCGTCGACTGAAAGTG 0.318000 3 22 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1039024 1039024 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:1039024G>C ENST00000358495.3 - 5 447 c.309C>G c.(307-309)ttC>ttG p.F103L RAD52_ENST00000545564.1_Missense_Mutation_p.F103L|RAD52_ENST00000539046.1_Missense_Mutation_p.F26L|RAD52_ENST00000536177.1_Missense_Mutation_p.F103L|RAD52_ENST00000430095.2_Missense_Mutation_p.F103L NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 103 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) CTCCCACGTAGAACTTGCCAT 0.547000 Homologous recombination 44 248 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36934615 36934615 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:36934615T>C ENST00000310758.4 - 17 2092 c.1445A>G c.(1444-1446)cAg>cGg p.Q482R ELMO1_ENST00000396045.3_Missense_Mutation_p.Q2R|ELMO1_ENST00000396040.2_Missense_Mutation_p.Q2R|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000341056.3_Missense_Mutation_p.Q184R NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 482 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 CTTCACCACCTGCATTACCTG 0.502000 5 65 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65198159 65198159 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr14:65198159C>T ENST00000247226.7 + 6 1070 c.762C>T c.(760-762)cgC>cgT p.R254R PLEKHG3_ENST00000394691.1_Silent_p.R310R NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 310 DH. 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) GCACATTCCGCGTGCATCGCG 0.557000 13 73 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38753872 38753872 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:38753872A>G ENST00000449082.2 - 22 3868 c.3869T>C c.(3868-3870)aTc>aCc p.I1290T NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1290 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GAGCCAGAAGATGAGGCAGAC 0.527000 15 89 0 0 1 0 0 MAP2K4 6416 broad.mit.edu 37 17 12032584 12032584 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:12032584C>T ENST00000415385.3 + 10 1106 c.1053C>T c.(1051-1053)ttC>ttT p.F351F MAP2K4_ENST00000353533.5_Silent_p.F340F P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 340 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) CCCCGAGTTTCATCAACTTTG 0.423000 """D, Mis, N""" """pancreatic, breast, colorectal""" 12 45 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72912896 72912896 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:72912896G>C ENST00000339594.4 - 4 840 c.502C>G c.(502-504)Cag>Gag p.Q168E BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q168E NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 168 Mediates the tyrosine-protein kinase activity. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TGAGCAATCTGACTGGAGTTC 0.418000 27 170 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141555229 141555229 + Silent SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:141555229T>C ENST00000442267.2 - 16 2693 c.2619A>G c.(2617-2619)ggA>ggG p.G873G NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 873 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GAGCAAACATTCCCTTGAACT 0.532000 5 51 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24441157 24441157 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr18:24441157C>G ENST00000383168.4 - 3 678 c.550G>C c.(550-552)Gat>Cat p.D184H AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.D162H|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.D162H NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 184 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) CCAGTGACATCAGTCCGTTTG 0.388000 10 79 0 0 1 0 0 ZNF623 9831 broad.mit.edu 37 8 144732346 144732346 + Silent SNP A A C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:144732346A>C ENST00000501748.2 + 1 393 c.304A>C c.(304-306)Aga>Cga p.R102R ZNF623_ENST00000526926.1_Silent_p.R62R|ZNF623_ENST00000458270.2_Silent_p.R62R NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAAGTCAGGAAGAAACCATAT 0.502000 14 131 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187979 140187979 + Missense_Mutation SNP A A T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:140187979A>T ENST00000530339.1 + 1 1207 c.1207A>T c.(1207-1209)Aat>Tat p.N403Y PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.N403Y|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.N403Y NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCTTCAAGAATTACTACTC 0.612000 48 210 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713505 30713505 + Missense_Mutation SNP A A T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:30713505A>T ENST00000295754.5 + 4 1212 c.830A>T c.(829-831)aAg>aTg p.K277M TGFBR2_ENST00000359013.4_Missense_Mutation_p.K302M NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 277 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GTGGCAGTCAAGATCTTTCCC 0.488000 11 100 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19120694 19120694 + Nonsense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:19120694G>A ENST00000601879.1 - 5 2605 c.2308C>T c.(2308-2310)Cag>Tag p.Q770* SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000456085.2_Nonsense_Mutation_p.Q539*|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q784* Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 770 Pro/Ser-rich. mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GAAGAGGTCTGAGGTGCTTCA 0.617000 7 103 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123047530 123047530 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:123047530A>G ENST00000462833.1 - 6 2978 c.1766T>C c.(1765-1767)gTc>gCc p.V589A ADCY5_ENST00000309879.5_Missense_Mutation_p.V239A|ADCY5_ENST00000491190.1_Missense_Mutation_p.V222A NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 589 Guanylate cyclase 1. activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) GGCTAGCGTGACATCGTTAGA 0.617000 OREG0015742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 133 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99434613 99434613 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr15:99434613G>A ENST00000268035.6 + 3 1311 c.700G>A c.(700-702)Gag>Aag p.E234K IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.E234K|RP11-654A16.1_ENST00000558736.1_RNA NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 234 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTGCCACCCCGAGTGCCTGGG 0.647000 5 32 0 0 1 0 0 OIP5 11339 broad.mit.edu 37 15 41602007 41602007 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr15:41602007G>A ENST00000220514.3 - 5 694 c.635C>T c.(634-636)tCa>tTa p.S212L NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 212 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) CTTCATTAGTGATTTTAAGCG 0.378000 4 62 0 0 1 0 0 ZNF33A 7581 broad.mit.edu 37 10 38344133 38344133 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:38344133G>C ENST00000374618.3 + 5 1259 c.1081G>C c.(1081-1083)Gaa>Caa p.E361Q ZNF33A_ENST00000432900.2_Missense_Mutation_p.E367Q|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E360Q|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E360Q|ZNF33A_ENST00000469037.2_Intron NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 360 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 TCAATGTAATGAATGTGAAAA 0.413000 16 90 0 0 1 0 0 RRP7A 27341 broad.mit.edu 37 22 42912067 42912067 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr22:42912067C>G ENST00000323013.6 - 3 307 c.292G>C c.(292-294)Gag>Cag p.E98Q NM_015703.4 NP_056518.2 Q9Y3A4 RRP7A_HUMAN ribosomal RNA processing 7 homolog A (S. cerevisiae) 98 nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 TTTGGGCTCTCAGCCAGGTCC 0.627000 9 44 0 0 1 0 0 C12orf54 121273 broad.mit.edu 37 12 48888659 48888659 + Silent SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:48888659A>G ENST00000314014.2 + 8 452 c.321A>G c.(319-321)ggA>ggG p.G107G C12orf54_ENST00000548364.1_Silent_p.G107G|RP11-722P11.4_ENST00000551847.1_RNA NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 107 endometrium(1)|large_intestine(4) 5 AGCCATCAGGAGGCCGTATCC 0.483000 17 118 0 0 1 0 0 EMX2 2018 broad.mit.edu 37 10 119307742 119307742 + Silent SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:119307742A>G ENST00000553456.3 + 3 1582 c.758A>G c.(757-759)tAa>tGa p.*253* EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_3'UTR NM_004098.3 NP_004089.1 Q04743 EMX2_HUMAN empty spiracles homeobox 2 0 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2) 12 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) TCAGATGATTAAAAACATAAA 0.453000 6 26 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38853090 38853090 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr21:38853090G>C ENST00000339659.3 + 4 1921 c.451G>C c.(451-453)Gaa>Caa p.E151Q DYRK1A_ENST00000321219.8_Missense_Mutation_p.E160Q|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E160Q|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E160Q NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 160 nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity p.E160K(2) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GGATCGTTACGAAATTGACTC 0.333000 9 42 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85948094 85948094 + Missense_Mutation SNP C C T rs140514602 by1000genomes TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr16:85948094C>T ENST00000268638.5 + 6 991 c.569C>T c.(568-570)aCg>aTg p.T190M IRF8_ENST00000562492.1_5'UTR NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 190 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CCGCTGGTGACGGGGTACACC 0.587000 5 52 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111397683 111397683 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:111397683G>T ENST00000265162.5 + 1 455 c.113G>T c.(112-114)gGc>gTc p.G38V NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 38 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CTTGCCGTGGGCTTGACCAGA 0.602000 14 145 2.32078e-09 2.71461e-09 1 1 0 GRIN3B 116444 broad.mit.edu 37 19 1005279 1005279 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:1005279C>T ENST00000234389.3 + 3 1798 c.1779C>T c.(1777-1779)acC>acT p.T593T NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 593 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TCTTCCTCACCGTGTACGAGT 0.662000 11 67 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61986011 61986011 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr13:61986011G>T ENST00000409186.1 - 5 4326 c.2221C>A c.(2221-2223)Ctt>Att p.L741I PCDH20_ENST00000409204.4_Missense_Mutation_p.L741I Q8N6Y1 PCD20_HUMAN protocadherin 20 714 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) AACAAAACAAGAGGAGGGTTG 0.453000 24 140 3.08376e-08 3.56387e-08 1 1 0 CBLN2 147381 broad.mit.edu 37 18 70205525 70205525 + Silent SNP G G A rs149543931 TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr18:70205525G>A ENST00000269503.4 - 5 1334 c.561C>T c.(559-561)ggC>ggT p.G187G CBLN2_ENST00000584764.1_Silent_p.G71G|CBLN2_ENST00000581073.1_Silent_p.G73G|CBLN2_ENST00000585159.1_Silent_p.G187G|CBLN2_ENST00000583651.1_5'UTR NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 187 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GCAGCAGCACGCCATTGCTAG 0.507000 15 78 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589637 140589637 + Silent SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:140589637G>A ENST00000239450.2 + 1 1347 c.1158G>A c.(1156-1158)ccG>ccA p.P386P PCDHB12_ENST00000541609.1_Silent_p.P49P NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 386 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCTATCCCGGAGGACATCC 0.468000 16 59 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102020655 102020655 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:102020655G>A ENST00000549145.1 + 4 209 c.109G>A c.(109-111)Gag>Aag p.E37K MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E11K|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000551300.1_5'UTR Q00872 MYPC1_HUMAN myosin binding protein C, slow type 35 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TTCAGATGAAGAGGAAGTCTC 0.393000 6 60 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 24 71 0 0 1 0 0 POLH 5429 broad.mit.edu 37 6 43581625 43581625 + Missense_Mutation SNP G G C rs142864589 byFrequency TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:43581625G>C ENST00000372236.4 + 11 1768 c.1473G>C c.(1471-1473)caG>caC p.Q491H POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.Q429H NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 491 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) CAGAAAGGCAGAAAGTTAAAG 0.483000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 20 83 0 0 1 0 0 EFNB3 1949 broad.mit.edu 37 17 7612679 7612679 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:7612679G>A ENST00000226091.2 + 5 1205 c.808G>A c.(808-810)Ggg>Agg p.G270R NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 270 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGGCTCCTTCGGGAGGGGAGG 0.716000 6 14 0 0 1 0 0 OR6A2 8590 broad.mit.edu 37 11 6816047 6816047 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:6816047C>T ENST00000332601.3 - 1 1081 c.893G>A c.(892-894)cGc>cAc p.R298H NM_003696.2 NP_003687.2 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 29 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCTTGATTGCGCAGGCAGTA 0.488000 9 106 0 0 1 0 0 KLHL7 55975 broad.mit.edu 37 7 23164844 23164844 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:23164844C>G ENST00000545771.1 + 5 642 c.429C>G c.(427-429)ttC>ttG p.F143L KLHL7_ENST00000410047.1_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000409689.1_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000322275.5_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Intron|KLHL7_ENST00000322231.7_Intron Q8IXQ5 KLHL7_HUMAN kelch-like family member 7 0 Golgi apparatus|nucleolus|plasma membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCTTTATTTCTAATTTAATT 0.284000 6 18 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105290756 105290756 + Missense_Mutation SNP A A C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:105290756A>C ENST00000306107.5 + 15 2225 c.1725A>C c.(1723-1725)gaA>gaC p.E575D ALCAM_ENST00000486979.2_Missense_Mutation_p.E524D|ALCAM_ENST00000472644.2_Missense_Mutation_p.E562D|ALCAM_ENST00000389927.4_Missense_Mutation_p.E297D NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 575 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AAAAGTTAGAAGAAAACAATC 0.358000 6 18 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207297268 207297268 + Splice_Site SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:207297268T>C ENST00000367070.3 + 5 624 c.428_splice c.e5-1 p.F144_splice NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 144 Sushi 2. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CTTATTCAGATTTTTCTTAAT 0.338000 4 15 0 0 1 0 0 SPATA25 128497 broad.mit.edu 37 20 44515173 44515173 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr20:44515173G>A ENST00000372519.3 - 2 711 c.667C>T c.(667-669)Cct>Tct p.P223S NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 223 integral to membrane CAGGAGCCAGGAGGCTGGCCC 0.592000 28 230 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56483632 56483632 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:56483632G>T ENST00000370765.6 - 23 5307 c.5200C>A c.(5200-5202)Cac>Aac p.H1734N DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1113 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.H1734N(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCTTTCTGTGGGTCATCTGC 0.383000 40 136 5.43694e-19 6.4376e-19 1 1 0 C1orf168 199920 broad.mit.edu 37 1 57254645 57254645 + Splice_Site SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:57254645C>A ENST00000343433.6 - 3 1000 c.e3+1 C1orf168_ENST00000484327.1_Splice_Site NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CATTTCCTTACCTTCCCCCTG 0.597000 7 111 0.000157383 0.00017161 1 1 0 TOM1L2 146691 broad.mit.edu 37 17 17788011 17788011 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:17788011C>T ENST00000581396.1 - 4 384 c.288G>A c.(286-288)agG>agA p.R96R TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Silent_p.R146R|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000318094.10_Intron|TOM1L2_ENST00000379504.3_Silent_p.R146R NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 146 VHS. intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) CAACCCCTTTCCTCTTCAGCT 0.517000 15 117 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108455272 108455272 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:108455272C>T ENST00000408999.3 + 4 334 c.257C>T c.(256-258)tCa>tTa p.S86L RGPD4_ENST00000354986.4_Missense_Mutation_p.S86L NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 86 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TATTAGCGTTCAGTGGAATTA 0.279000 14 31 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21971906 21971906 + Silent SNP A A T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr14:21971906A>T ENST00000298717.4 - 2 370 c.219T>A c.(217-219)gcT>gcA p.A73A METTL3_ENST00000538267.1_Silent_p.A73A NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 73 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CAGGATCTGTAGCTAATTCAG 0.532000 19 162 0 0 1 0 0 GRXCR1 389207 broad.mit.edu 37 4 42965095 42965095 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:42965095C>G ENST00000399770.2 + 2 571 c.571C>G c.(571-573)Cga>Gga p.R191G NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 191 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 ACGATGCCGACGAGTTTCTGA 0.428000 45 387 0 0 1 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764776 140764776 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:140764776C>G ENST00000518325.1 + 1 2310 c.2310C>G c.(2308-2310)ttC>ttG p.F770L PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTGATCTTCCCCCAGCCCA 0.512000 12 198 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70504892 70504892 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:70504892C>T ENST00000310961.5 + 22 3704 c.3286C>T c.(3286-3288)Cca>Tca p.P1096S LRRC7_ENST00000415775.2_Missense_Mutation_p.P375S|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1091S Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1091 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATTTTCTCAGCCATCTGTGAA 0.537000 8 110 0 0 1 0 0 KATNB1 10300 broad.mit.edu 37 16 57785854 57785854 + Silent SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr16:57785854C>G ENST00000379661.3 + 8 911 c.519C>G c.(517-519)ctC>ctG p.L173L NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 173 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) GCCTCCAGCTCTGGGATCTCA 0.602000 6 24 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761495 55761495 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:55761495C>G ENST00000278409.1 - 1 606 c.607G>C c.(607-609)Gct>Cct p.A203P NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) TTCACACCAGCCAAAATAGAA 0.463000 6 91 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209195278 209195278 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:209195278G>C ENST00000264380.4 + 23 3981 c.3823G>C c.(3823-3825)Gat>Cat p.D1275H NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1275 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CATGTTCTGTGATACCCCCAT 0.448000 21 273 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6593057 6593057 + Missense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:6593057C>A ENST00000254579.6 + 43 14667 c.14103C>A c.(14101-14103)gaC>gaA p.D4701E DNHD1_ENST00000527990.2_Missense_Mutation_p.D4701E NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4701 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCCCAGCCGACCTGACTGTGT 0.627000 12 105 0.00010058 0.000110925 1 1 0 ACE 1636 broad.mit.edu 37 17 61571289 61571289 + Missense_Mutation SNP A A T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:61571289A>T ENST00000577647.1 + 10 1466 c.1421A>T c.(1420-1422)gAc>gTc p.D474V ACE_ENST00000428043.1_Missense_Mutation_p.D1048V|ACE_ENST00000490216.2_Missense_Mutation_p.D474V|ACE_ENST00000290863.6_Missense_Mutation_p.D474V|ACE_ENST00000290866.4_Missense_Mutation_p.D1048V|ACE_ENST00000413513.3_Missense_Mutation_p.D474V|ACE_ENST00000421982.2_Missense_Mutation_p.D294V P12821 ACE_HUMAN angiotensin I converting enzyme 1048 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCAGAGCATGACATCAACTTT 0.572000 4 64 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66458515 66458515 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:66458515G>A ENST00000404260.3 + 28 4183 c.3875G>A c.(3874-3876)aGa>aAa p.R1292K MAST4_ENST00000405643.1_Missense_Mutation_p.R1110K|MAST4_ENST00000403625.2_Missense_Mutation_p.R1289K|MAST4_ENST00000261569.7_Missense_Mutation_p.R1095K|MAST4_ENST00000403666.1_Missense_Mutation_p.R1100K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1292 Ser-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TGCTTGAACAGATCCCTGTCA 0.522000 11 68 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316247 72316247 + Missense_Mutation SNP T T G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:72316247T>G ENST00000340595.3 + 7 1259 c.1063T>G c.(1063-1065)Tcc>Gcc p.S355A SLC4A4_ENST00000512686.1_Missense_Mutation_p.S355A|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S399A|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S399A|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S399A NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 399 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GAGTCTTCCATCCTCTGACAA 0.418000 3 24 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1940653 1940653 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:1940653G>A ENST00000543818.1 + 4 1462 c.620G>A c.(619-621)cGt>cAt p.R207H CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.R207H|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.R207H NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 207 LRRCT. integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) TGTAACCTGCGTGAGTTCAAA 0.602000 13 80 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44876325 44876325 + Missense_Mutation SNP T T A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:44876325T>A ENST00000374429.2 - 2 151 c.65A>T c.(64-66)aAg>aTg p.K22M CXCL12_ENST00000395795.4_Missense_Mutation_p.K22M|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.K22M|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395794.2_Missense_Mutation_p.K22M|CXCL12_ENST00000395793.3_Missense_Mutation_p.K22M|CXCL12_ENST00000343575.6_Missense_Mutation_p.K22M NM_000609.5|NM_001277990.1 NP_000600.1|NP_001264919.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 22 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) GCTGACGGGCTTCCCTAGAAG 0.493000 8 196 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327851 67327851 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr16:67327851G>T ENST00000304372.5 - 12 1869 c.1814C>A c.(1813-1815)cCt>cAt p.P605H NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 605 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGGGCTCTCAGGGTGGCTCCC 0.547000 17 208 0.000566183 0.000613895 1 1 0 SLC38A2 54407 broad.mit.edu 37 12 46756292 46756292 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:46756292T>C ENST00000256689.5 - 14 1753 c.1309A>G c.(1309-1311)Atc>Gtc p.I437V SLC38A2_ENST00000551374.1_Missense_Mutation_p.I275V NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 437 cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) AAACCAAAGATATCCCTAATA 0.348000 12 52 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3046478 3046478 + Nonsense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:3046478G>T ENST00000520002.1 - 36 6012 c.5457C>A c.(5455-5457)taC>taA p.Y1819* CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1819* Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1819 CUB 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATGGCTCAGGGTAGCCGGGGG 0.468000 3 17 0.004672 0.0049273 1 1 0 IGLV8-61 28774 broad.mit.edu 37 22 22453465 22453465 + RNA SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr22:22453465C>T ENST00000390283.2 + 0 257 CCAGGCTCCACGCACGCTCAT 0.592000 9 138 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111643869 111643869 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:111643869T>C ENST00000435970.1 - 28 8836 c.8020A>G c.(8020-8022)Att>Gtt p.I2674V REV3L_ENST00000368805.1_Missense_Mutation_p.I2752V|REV3L_ENST00000358835.3_Missense_Mutation_p.I2752V|REV3L_ENST00000368802.3_Missense_Mutation_p.I2752V O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2752 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTGTGAACAATACTATCGCCA 0.363000 DNA polymerases (catalytic subunits) 20 114 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22035640 22035640 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr22:22035640C>T ENST00000406385.1 + 7 408 c.348C>T c.(346-348)atC>atT p.I116I PPIL2_ENST00000492445.2_Silent_p.I116I|PPIL2_ENST00000412327.1_Silent_p.I116I|PPIL2_ENST00000456792.2_Silent_p.I95I|PPIL2_ENST00000335025.7_Silent_p.I116I|PPIL2_ENST00000398831.3_Silent_p.I116I Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 116 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) ACACCCACATCGTGGCTGTGA 0.597000 7 63 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82843857 82843857 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:82843857C>T ENST00000265077.3 + 10 10012 c.9447C>T c.(9445-9447)ttC>ttT p.F3149F VCAN_ENST00000502527.2_Silent_p.F408F|VCAN_ENST00000343200.5_Silent_p.F2162F|VCAN_ENST00000512590.2_Silent_p.F1347F|VCAN_ENST00000342785.4_Silent_p.F1395F|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3149 EGF-like 2; calcium-binding (Potential). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTAACACATTCAGGTGCCTCT 0.358000 8 56 0 0 1 0 0 KCTD19 146212 broad.mit.edu 37 16 67327850 67327850 + Silent SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr16:67327850A>G ENST00000304372.5 - 12 1870 c.1815T>C c.(1813-1815)ccT>ccC p.P605P NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 605 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGGGGCTCTCAGGGTGGCTCC 0.547000 17 205 0 0 1 0 0 FANCL 55120 broad.mit.edu 37 2 58392999 58392999 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:58392999A>G ENST00000402135.3 - 8 602 c.566T>C c.(565-567)aTa>aCa p.I189T FANCL_ENST00000233741.4_Missense_Mutation_p.I184T|FANCL_ENST00000403295.3_Missense_Mutation_p.I184T|FANCL_ENST00000540646.1_3'UTR|FANCL_ENST00000403676.1_Missense_Mutation_p.I67T NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 184 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 ATAAATGCTTATTAAGGAGCT 0.328000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 73 0 0 1 0 0 MOB3B 79817 broad.mit.edu 37 9 27455167 27455167 + Nonsense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr9:27455167G>A ENST00000262244.5 - 2 806 c.382C>T c.(382-384)Cag>Tag p.Q128* NM_024761.4 NP_079037.3 Q86TA1 MOL2B_HUMAN MOB kinase activator 3B 128 metal ion binding|protein binding TTGTTGATCTGAACCTCAATC 0.423000 9 84 0 0 1 0 0 PSMD1 5707 broad.mit.edu 37 2 231943413 231943413 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:231943413T>C ENST00000308696.6 + 10 1274 c.1112T>C c.(1111-1113)aTa>aCa p.I371T PSMD1_ENST00000409643.1_Missense_Mutation_p.I371T|PSMD1_ENST00000373635.4_Missense_Mutation_p.I371T NM_002807.3 NP_002798.2 Q99460 PSMD1_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 371 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GCAACCGTTATAGCAAACTCT 0.358000 14 69 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 36934613 36934613 + Missense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:36934613C>A ENST00000310758.4 - 17 2094 c.1447G>T c.(1447-1449)Gtg>Ttg p.V483L ELMO1_ENST00000396045.3_Missense_Mutation_p.V3L|ELMO1_ENST00000396040.2_Missense_Mutation_p.V3L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V483L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V483L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V185L NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 483 ELMO. actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TCCTTCACCACCTGCATTACC 0.498000 5 65 0.014758 0.0152315 1 1 0 STX11 8676 broad.mit.edu 37 6 144507870 144507870 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:144507870G>A ENST00000367568.4 + 2 289 c.106G>A c.(106-108)Gag>Aag p.E36K NM_003764.3 NP_003755.2 O75558 STX11_HUMAN syntaxin 11 36 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) CATCGTGTTCGAGACGGACCA 0.567000 Familial Hemophagocytic Lymphohistiocytosis 6 47 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101476833 101476833 + Silent SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:101476833G>A ENST00000341893.3 + 9 2135 c.1383G>A c.(1381-1383)gaG>gaA p.E461E CEP97_ENST00000494050.1_Silent_p.E402E|CEP97_ENST00000327230.4_Silent_p.E461E Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 461 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 CTGCAAATGAGAATTCTGTTC 0.423000 8 47 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101971752 101971752 + Missense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chrX:101971752C>A ENST00000543253.1 + 5 2874 c.1955C>A c.(1954-1956)tCt>tAt p.S652Y GPRASP2_ENST00000535209.1_Missense_Mutation_p.S652Y|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S652Y NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TATCCATCCTCTAGAGTTAGG 0.368000 4 48 0.00909568 0.00954058 1 1 0 C6orf62 81688 broad.mit.edu 37 6 24716392 24716392 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:24716392T>C ENST00000378119.4 - 2 2457 c.290A>G c.(289-291)tAt>tGt p.Y97C C6orf62_ENST00000540769.1_Missense_Mutation_p.Y39C|C6orf62_ENST00000378102.3_Missense_Mutation_p.Y68C NM_030939.4 NP_112201.1 Q9GZU0 CF062_HUMAN chromosome 6 open reading frame 62 97 intracellular endometrium(2)|kidney(3)|large_intestine(2)|lung(3) 10 CATAGACTGATATCGAGGAGC 0.453000 14 66 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175097823 175097823 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:175097823G>A ENST00000239462.4 + 15 3384 c.3271G>A c.(3271-3273)Gat>Aat p.D1091N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1091 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTGCATGGCGATGCCAGCCG 0.602000 9 83 0 0 1 0 0 DOCK7 85440 broad.mit.edu 37 1 63113907 63113907 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:63113907G>A ENST00000251157.5 - 6 635 c.602C>T c.(601-603)tCa>tTa p.S201L DOCK7_ENST00000340370.5_Missense_Mutation_p.S201L|DOCK7_ENST00000404627.2_Missense_Mutation_p.S201L NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 201 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding p.S201L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATCAGGAAGTGAATTTTTCAA 0.393000 7 73 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986483 11986483 + RNA SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:11986483C>G ENST00000434078.2 + 0 608 NR_027425.1 CCCAGGACAGCATGTAGTTGG 0.557000 5 40 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74949788 74949788 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr16:74949788T>C ENST00000262144.6 - 13 1334 c.1204A>G c.(1204-1206)Atc>Gtc p.I402V NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 402 RWD. breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 ACATTCCGGATTTGCACATTG 0.448000 12 84 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6859811 6859811 + Missense_Mutation SNP A A G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr18:6859811A>G ENST00000419673.2 + 4 381 c.164A>G c.(163-165)gAt>gGt p.D55G ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D55G|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D162G|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D55G|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D214G|ARHGAP28_ENST00000531294.1_Splice_Site_p.N50_splice|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D214G|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D37G NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 0 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) ATTTAGCCAGATGATGCTTCT 0.423000 9 128 0 0 1 0 0 RARRES2 5919 broad.mit.edu 37 7 150037234 150037234 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:150037234C>T ENST00000466675.1 - 2 1267 c.234G>A c.(232-234)cgG>cgA p.R78R RARRES2_ENST00000223271.3_Silent_p.R78R|RARRES2_ENST00000482669.1_Silent_p.R78R Q99969 RARR2_HUMAN retinoic acid receptor responder (tazarotene induced) 2 78 embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process extracellular matrix receptor binding endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(82;0.011) AGTCCCTCTTCCGGCAGCTTG 0.582000 41 488 0 0 1 0 0 PAK3 5063 broad.mit.edu 37 X 110385355 110385355 + Silent SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chrX:110385355G>A ENST00000519681.1 + 6 649 c.207G>A c.(205-207)gaG>gaA p.E69E PAK3_ENST00000417227.1_Silent_p.E69E|PAK3_ENST00000372007.4_Silent_p.E69E|PAK3_ENST00000360648.4_Silent_p.E69E|PAK3_ENST00000262836.4_Silent_p.E69E|PAK3_ENST00000518291.1_Silent_p.E69E|PAK3_ENST00000446737.1_Silent_p.E69E|PAK3_ENST00000372010.1_Silent_p.E69E|PAK3_ENST00000425146.1_Silent_p.E69E O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 69 Autoregulatory region (By similarity).|GTPase-binding (By similarity). multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AGCGCCCAGAGATCTCTCTTC 0.408000 TSP Lung(19;0.15) 23 63 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68669856 68669856 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:68669856C>T ENST00000509734.1 + 4 920 c.242C>T c.(241-243)tCa>tTa p.S81L RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.S81L|RAD17_ENST00000361732.2_Missense_Mutation_p.S70L|RAD17_ENST00000354868.5_Missense_Mutation_p.S70L|RAD17_ENST00000354312.3_Missense_Mutation_p.S70L|RAD17_ENST00000345306.6_Missense_Mutation_p.S70L|RAD17_ENST00000305138.4_Missense_Mutation_p.S70L|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000358030.2_5'UTR O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 81 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTAGAAAATTCAAAAGAATAT 0.328000 Other conserved DNA damage response genes 5 51 0 0 1 0 0 MUTYH 4595 broad.mit.edu 37 1 45797745 45797745 + Missense_Mutation SNP T T A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:45797745T>A ENST00000450313.1 - 11 1162 c.947A>T c.(946-948)cAg>cTg p.Q316L MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.Q289L|MUTYH_ENST00000448481.1_Missense_Mutation_p.Q299L|MUTYH_ENST00000372098.3_Missense_Mutation_p.Q313L|MUTYH_ENST00000372100.5_Missense_Mutation_p.Q299L|MUTYH_ENST00000372104.1_Missense_Mutation_p.Q288L|MUTYH_ENST00000372115.3_Missense_Mutation_p.Q302L|MUTYH_ENST00000355498.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000372110.3_Missense_Mutation_p.Q303L|MUTYH_ENST00000531105.1_Intron NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 313 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GGCTAAGAGCTGTTCCTGCTC 0.597000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 8 80 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117122188 117122188 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:117122188G>A ENST00000369486.3 - 10 3925 c.3160C>T c.(3160-3162)Cgc>Tgc p.R1054C IGSF3_ENST00000369483.1_Missense_Mutation_p.R1074C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1074C NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1054 Ig-like C2-type 8. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) CTCTGGAAGCGAAGCCTGCCC 0.647000 11 49 0 0 1 0 0 API5 8539 broad.mit.edu 37 11 43333735 43333735 + Nonsense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:43333735C>T ENST00000378852.3 + 1 183 c.58C>T c.(58-60)Caa>Taa p.Q20* API5_ENST00000534695.1_Nonsense_Mutation_p.Q20*|API5_ENST00000455725.2_5'UTR|API5_ENST00000420461.2_Nonsense_Mutation_p.Q20*|API5_ENST00000534600.1_Nonsense_Mutation_p.Q20*|API5_ENST00000531273.1_Nonsense_Mutation_p.Q20* NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 20 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 TGCCACGGAGCAAGTGGGCCA 0.677000 OREG0020900 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 31 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37211472 37211472 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:37211472C>T ENST00000585696.1 + 3 2983 c.1753C>T c.(1753-1755)Ccc>Tcc p.P585S ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.P585S|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.P616S Q8N184 ZN567_HUMAN zinc finger protein 567 616 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGGTGAGAAACCCTATGTTTG 0.373000 5 33 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720490 95720490 + RNA SNP C C T rs12570608 by1000genomes TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:95720490C>T ENST00000480546.1 - 0 807 NR_002319.2 AGAGGCTTCTCTCGCTCTTTC 0.453000 4 65 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10446477 10446477 + Splice_Site SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:10446477C>A ENST00000245503.5 - 9 1127 c.741_splice c.e9-1 p.G248_splice MYH2_ENST00000532183.1_Splice_Site_p.G248_splice|MYH2_ENST00000397183.2_Splice_Site_p.G248_splice|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 248 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GATGAATTTACCCTTGAAATA 0.274000 6 70 0.0293803 0.0300021 1 1 0 PEX5L 51555 broad.mit.edu 37 3 179526100 179526100 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:179526100G>A ENST00000467460.1 - 13 1808 c.1478C>T c.(1477-1479)gCa>gTa p.A493V PEX5L_ENST00000465751.1_Missense_Mutation_p.A469V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434V NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 493 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TGCATCTATTGCTCTATTAAA 0.453000 5 55 0 0 1 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18777600 18777600 + Missense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr9:18777600C>A ENST00000380548.4 + 19 3712 c.3373C>A c.(3373-3375)Cgc>Agc p.R1125S NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1125 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCCCTCGGAGCGCAGGACTTC 0.667000 4 23 1 1 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25457043 25457043 + RNA SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr15:25457043G>A ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGAGAAATTTGGAGGAGGATG 0.507000 23 183 0 0 1 0 0 OR6M1 390261 broad.mit.edu 37 11 123676215 123676215 + Silent SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:123676215G>A ENST00000309154.2 - 1 880 c.843C>T c.(841-843)ctC>ctT p.L281L NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) AAGGGTTCAGGAGAGGGGTCA 0.473000 17 83 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75891820 75891820 + Missense_Mutation SNP T T C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:75891820T>C ENST00000321027.3 - 17 2451 c.2318A>G c.(2317-2319)cAt>cGt p.H773R MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.H735R|GCFC2_ENST00000541687.1_3'UTR NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 773 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TGATTTAAGATGGTCTAGGTG 0.303000 4 22 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96762006 96762006 + Silent SNP A A T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:96762006A>T ENST00000295266.4 + 1 768 c.705A>T c.(703-705)gcA>gcT p.A235A NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 235 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) AGAGAGCAGCAGCCAGCCCTG 0.433000 8 81 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112997128 112997128 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:112997128G>A ENST00000271277.6 + 5 613 c.388G>A c.(388-390)Gat>Aat p.D130N NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 130 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) 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) GGCTGAAGGAGATGATGTCAC 0.418000 29 100 0 0 1 0 0 NRG3 10718 broad.mit.edu 37 10 84745220 84745220 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:84745220C>T ENST00000372142.2 + 11 1633 c.1359C>T c.(1357-1359)taC>taT p.Y453Y NRG3_ENST00000537893.1_Silent_p.Y300Y|NRG3_ENST00000404547.1_Silent_p.Y674Y|NRG3_ENST00000545131.1_Silent_p.Y300Y|NRG3_ENST00000404576.2_Silent_p.Y454Y|NRG3_ENST00000372141.2_Silent_p.Y650Y|NRG3_ENST00000556918.1_Silent_p.Y480Y NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 674 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.Y453Y(1)|p.Y650Y(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) CAGAAGACTACGAACTGGCCA 0.488000 11 56 0 0 1 0 0 MAPK11 5600 broad.mit.edu 37 22 50704717 50704717 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr22:50704717G>A ENST00000330651.6 - 9 800 c.700C>T c.(700-702)Cgc>Tgc p.R234C MAPK11_ENST00000449719.2_3'UTR NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 234 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCCATGATGCGCTTCAGCTGG 0.612000 3 16 0 0 1 0 0 ETV5 2119 broad.mit.edu 37 3 185823132 185823132 + Missense_Mutation SNP T T A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:185823132T>A ENST00000306376.5 - 5 440 c.194A>T c.(193-195)gAt>gTt p.D65V ETV5_ENST00000434744.1_Missense_Mutation_p.D65V|ETV5_ENST00000537818.1_Missense_Mutation_p.D107V NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 65 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) CTGTTCATCATCAGGAACTTG 0.328000 T """TMPRSS2, SCL45A3""" Prostate 21 61 0 0 1 0 0 FAM168B 130074 broad.mit.edu 37 2 131812999 131812999 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:131812999C>T ENST00000409185.1 - 5 428 c.321G>A c.(319-321)ccG>ccA p.P107P FAM168B_ENST00000389915.3_Silent_p.P107P NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 107 endometrium(3)|lung(2) 5 CTGCATACAGCGGCTGTGTGT 0.612000 13 125 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9991651 9991651 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:9991651G>A ENST00000412055.1 - 2 278 c.149C>T c.(148-150)tCt>tTt p.S50F PRRT3_ENST00000411976.2_Missense_Mutation_p.S50F|PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 50 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 TGAGCCCACAGAGCCCTTGGG 0.627000 5 64 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906285 129906285 + Silent SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:129906285G>A ENST00000368654.3 - 13 4194 c.3819C>T c.(3817-3819)atC>atT p.I1273I MKI67_ENST00000368653.3_Silent_p.I913I NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1273 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGCTTTCCTGATACTTCTCT 0.498000 32 161 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26734222 26734222 + Missense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:26734222C>A ENST00000396005.3 - 2 680 c.371G>T c.(370-372)cGc>cTc p.R124L SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124L NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 124 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 GGCAGCATAGCGAACTGGTTT 0.398000 11 242 5.50884e-06 6.21758e-06 1 1 0 TRIM42 287015 broad.mit.edu 37 3 140401726 140401726 + Missense_Mutation SNP G G A rs146006015 TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:140401726G>A ENST00000286349.3 + 2 955 c.764G>A c.(763-765)cGc>cAc p.R255H NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 255 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 ATCACCTGCCGCCTCAACCTG 0.617000 9 71 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256720 140256720 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:140256720G>A ENST00000398631.2 + 1 1663 c.1663G>A c.(1663-1665)Gtg>Atg p.V555M PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGTGTTCGTGCTGGACGA 0.701000 12 177 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7636499 7636499 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:7636499G>A ENST00000572933.1 + 5 1954 c.494G>A c.(493-495)gGc>gAc p.G165D DNAH2_ENST00000082259.3_Missense_Mutation_p.G165D|DNAH2_ENST00000389173.2_Missense_Mutation_p.G165D|DNAH2_ENST00000570791.1_Missense_Mutation_p.G165D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 165 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACGGTGCGGGGCCCCTATATC 0.552000 23 113 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108373044 108373044 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:108373044C>T ENST00000361582.3 + 19 2316 c.2086C>T c.(2086-2088)Cac>Tac p.H696Y DZIP3_ENST00000463306.1_Missense_Mutation_p.H696Y NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 696 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AGCAAATCCACACTCAGTCAG 0.378000 14 91 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 621408 621408 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:621408C>T ENST00000358353.3 - 7 877 c.555G>A c.(553-555)ctG>ctA p.L185L CDHR5_ENST00000349570.7_Silent_p.L185L|CDHR5_ENST00000397542.2_Silent_p.L185L Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 185 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGTCCAGCCTCAGGGCGGGAC 0.657000 10 64 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92407324 92407324 + Nonstop_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:92407324G>C ENST00000276609.3 + 19 2209 c.1970G>C c.(1969-1971)tGa>tCa p.*657S SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonstop_Mutation_p.*657S NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 0 basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGTGAAGTCTGAGACCCTTTT 0.398000 25 209 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25479735 25479735 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr13:25479735C>T ENST00000381884.4 - 7 2626 c.2441G>A c.(2440-2442)gGg>gAg p.G814E CENPJ_ENST00000545981.1_Missense_Mutation_p.G814E NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 814 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GGATTCATTCCCAAGAACAAC 0.408000 9 127 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146136 31146136 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:31146136G>C ENST00000304166.4 + 16 1534 c.1245G>C c.(1243-1245)tgG>tgC p.W415C ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W471C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W394C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W443C NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 415 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 AGCGAAAATGGCGAAGCTGGA 0.607000 8 73 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 66987079 66987079 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr17:66987079C>G ENST00000340001.4 - 29 3947 c.3736G>C c.(3736-3738)Gct>Cct p.A1246P ABCA9_ENST00000453985.2_Missense_Mutation_p.A1208P|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1246P NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1246 transport integral to membrane ATP binding|ATPase activity p.A1246T(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GGAAAAATAGCGTTGCTTCTT 0.368000 6 44 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53269576 53269576 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:53269576G>C ENST00000338230.3 - 3 1700 c.1433C>G c.(1432-1434)gCt>gGt p.A478G NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 478 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) ACACGCAAAAGCCTTGTCACA 0.408000 16 196 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100341898 100341898 + Nonsense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:100341898G>C ENST00000437033.2 - 6 1120 c.617C>G c.(616-618)tCa>tGa p.S206* ADH7_ENST00000209665.4_Nonsense_Mutation_p.S218*|ADH7_ENST00000482593.1_Nonsense_Mutation_p.S149*|ADH7_ENST00000476959.1_Nonsense_Mutation_p.S226* P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 218 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CATGATGACTGACAGGCCAAC 0.493000 7 77 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 390850 390850 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr10:390850G>T ENST00000280886.6 - 28 3439 c.3352C>A c.(3352-3354)Cca>Aca p.P1118T NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1118 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGCTTCTTTGGCAAATCATCT 0.527000 3 7 0.004672 0.0049273 1 1 0 TLR4 7099 broad.mit.edu 37 9 120475703 120475703 + Missense_Mutation SNP A A C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr9:120475703A>C ENST00000355622.6 + 3 1398 c.1297A>C c.(1297-1299)Aat>Cat p.N433H TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.N393H NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 433 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CCAGCATTCCAATTTGAAACA 0.373000 13 72 0 0 1 0 0 YWHAQ 10971 broad.mit.edu 37 2 9725447 9725447 + Nonsense_Mutation SNP C C A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:9725447C>A ENST00000381844.4 - 5 869 c.706G>T c.(706-708)Gaa>Taa p.E236* YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Nonsense_Mutation_p.E236* P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 236 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) GCATCACATTCTTCTCCTGCA 0.368000 5 64 0.014758 0.0152315 1 1 0 RPLP0 6175 broad.mit.edu 37 12 120636428 120636428 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:120636428C>T ENST00000551150.1 - 5 895 c.580G>A c.(580-582)Gac>Aac p.D194N RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000546989.1_Missense_Mutation_p.D158N|RPLP0_ENST00000392514.4_Missense_Mutation_p.D194N|RPLP0_ENST00000228306.4_Missense_Mutation_p.D194N P05388 RLA0_HUMAN ribosomal protein, large, P0 194 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGCCATTGTCGAACACCTGC 0.527000 9 87 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193082032 193082032 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr3:193082032G>A ENST00000342358.4 - 2 218 c.101C>T c.(100-102)gCc>gTc p.A34V NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 34 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AAGGCAGAAGGCTTTCCGTAC 0.483000 12 252 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380410 147380410 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr1:147380410G>A ENST00000240986.4 + 2 381 c.328G>A c.(328-330)Gag>Aag p.E110K GJA8_ENST00000369235.1_Missense_Mutation_p.E110K NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 110 EA -> D (in Ref. 1; AAA77062). cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) CAAAAGCCGCGAGGCGGAGGA 0.652000 16 65 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9324827 9324827 + Silent SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:9324827G>A ENST00000308682.2 - 1 715 c.687C>T c.(685-687)tcC>tcT p.S229S NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 CCTTGGTGGAGGACATTCCCA 0.502000 4 69 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92406215 92406215 + Missense_Mutation SNP C C G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:92406215C>G ENST00000276609.3 + 18 2122 c.1883C>G c.(1882-1884)cCa>cGa p.P628R SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P628R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P628R NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 628 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) TCAGAGAAACCAATTTTTTTT 0.338000 6 57 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185370 127185370 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chrX:127185370G>C ENST00000371124.3 - 1 1012 c.816C>G c.(814-816)agC>agG p.S272R NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 272 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 AGAGTCCTGGGCTGTGGATGC 0.512000 12 104 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211471660 211471660 + Silent SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr2:211471660C>T ENST00000233072.5 + 18 2383 c.2187C>T c.(2185-2187)gcC>gcT p.A729A CPS1_ENST00000430249.2_Silent_p.A735A|CPS1_ENST00000451903.2_Silent_p.A278A NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 729 ATP-grasp 1. A -> T (in Ref. 1; BAA14328). carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTCAAAAGCCACTGGGTAAG 0.418000 4 51 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481867 140481867 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:140481867C>T ENST00000231130.2 + 1 1634 c.1634C>T c.(1633-1635)gCg>gTg p.A545V NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 545 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCAGCGAGGCGCTGGTGCGC 0.697000 14 105 0 0 1 0 0 SMAP1 60682 broad.mit.edu 37 6 71501407 71501407 + Missense_Mutation SNP G G C TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr6:71501407G>C ENST00000370455.3 + 5 678 c.430G>C c.(430-432)Gct>Cct p.A144P SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 144 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 CTCCTCTGATGCTCCTCTTCA 0.403000 17 109 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579540 55579540 + Missense_Mutation SNP T T A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:55579540T>A ENST00000333973.2 + 1 687 c.598T>A c.(598-600)Ttc>Atc p.F200I NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GACACTGCTGTTCCTGGTGGC 0.458000 24 193 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134472060 134472060 + Missense_Mutation SNP C C T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr8:134472060C>T ENST00000319914.5 - 9 1997 c.970G>A c.(970-972)Gtg>Atg p.V324M ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V324M|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V324M|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V324M Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 324 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GTGGCCGTCACGTTAGACTCA 0.562000 18 196 0 0 1 0 0 CLIP2 7461 broad.mit.edu 37 7 73790923 73790923 + Missense_Mutation SNP G G T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:73790923G>T ENST00000223398.6 + 10 2519 c.2192G>T c.(2191-2193)cGt>cTt p.R731L CLIP2_ENST00000395060.1_Missense_Mutation_p.R731L|CLIP2_ENST00000361545.5_Missense_Mutation_p.R696L NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 731 microtubule associated complex p.R696H(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GCCGAGCTGCGTGTGCACGAG 0.667000 7 18 0.0293803 0.0300021 1 1 0 TNIP1 10318 broad.mit.edu 37 5 150422486 150422486 + Missense_Mutation SNP G G A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr5:150422486G>A ENST00000389378.2 - 10 1561 c.973C>T c.(973-975)Cgg>Tgg p.R325W TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4 NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 325 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCATGGACCGGAAATGCTGG 0.552000 62 284 0 0 1 0 0 MSX1 4487 broad.mit.edu 37 4 4864658 4864658 + Frame_Shift_Del DEL G G - TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:4864658delG ENST00000382723.4 + 2 934 c.700delG c.(700-702)agfs p.E234fs MSX1_ENST00000468421.1_3'UTR NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 228 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) ACAAGAGGCAGAGCTGGAGAA 0.657 8 58 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187542091 187542092 + Frame_Shift_Ins INS - - A TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr4:187542091_187542092insA ENST00000441802.2 - 10 5857_5858 c.5648_5649insT c.(5647-5649)ttafs p.L1883fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1883 Cadherin 17. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATGCTTCATATAATGGCTTGGC 0.396 HNSCC(5;0.00058) 7 60 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100384030 100384033 + RNA DEL TTGT TTGT - rs71973809 TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr7:100384030_100384033delTTGT ENST00000542585.1 + 0 7124 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ttttcttttcttgtttgtttgttt 0.505 4 2 --- --- --- --- CYB5R2 51700 broad.mit.edu 37 11 7690521 7690522 + Frame_Shift_Ins INS - - T TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr11:7690521_7690522insT ENST00000533558.1 - 5 858_859 c.302_303insA c.(301-303)aatfs p.N101fs CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000528585.1_5'UTR Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 101 FAD-binding FR-type. sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACTGAGTCATCTTCCCACCTTC 0.480 19 119 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605075 57605075 + Frame_Shift_Del DEL A A - TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr12:57605075delA ENST00000243077.3 + 84 13499 c.13033delA c.(13033-13035)gcfs p.S4345fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4345 EGF-like 21. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GAACAAGTGCAGCCGCTGTCT 0.602 13 66 --- --- --- --- THEG 51298 broad.mit.edu 37 19 362245 362246 + Frame_Shift_Ins INS - - G TCGA-F7-8489-01A-31D-2394-08 TCGA-F7-8489-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 702621bc-dd44-44d3-bfba-0fc509c33c57 21f04929-8c75-46aa-9988-6135919c04b3 g.chr19:362245_362246insG ENST00000342640.4 - 8 1136_1137 c.1094_1095insC c.(1093-1095)caafs p.Q365fs THEG_ENST00000346878.2_Frame_Shift_Ins_p.Q341fs NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 365 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGATGCTTTTGGGGGTGGCAA 0.584 13 141 --- --- --- ---