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 ZNRD1-AS1 80862 broad.mit.edu 37 6 29976024 29976024 + RNA SNP C C G rs3765604 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr6:29976024C>G ENST00000376797.3 - 0 1053 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA ATAACGAGGTCCTGGGTTCTG 0.592000 8 29 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55212787 55212787 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:55212787C>T ENST00000447346.2 + 15 2199 c.2134C>T c.(2134-2136)Cgc>Tgc p.R712C IL31RA_ENST00000490985.1_Missense_Mutation_p.R570C|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 680 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) AGAGGGGACCCGCCCAGAAGC 0.483000 11 49 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6290930 6290930 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr11:6290930C>T ENST00000525462.1 + 2 186 c.183C>T c.(181-183)taC>taT p.Y61Y CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000525014.1_Silent_p.Y61Y|CCKBR_ENST00000334619.2_Silent_p.Y61Y P32239 GASR_HUMAN cholecystokinin B receptor 61 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TCACTCTTTACGCAGTGATCT 0.532000 17 64 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27736473 27736473 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:27736473G>A ENST00000430629.2 - 8 1267 c.1052C>T c.(1051-1053)tCa>tTa p.S351L WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 351 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AGATGGGGGTGAGGGTGGTGG 0.637000 13 55 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241094020 241094020 + Missense_Mutation SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:241094020A>T ENST00000366565.1 - 6 763 c.382T>A c.(382-384)Tat>Aat p.Y128N RGS7_ENST00000366563.1_Missense_Mutation_p.Y128N|RGS7_ENST00000407727.1_Missense_Mutation_p.Y128N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Missense_Mutation_p.Y102N|RGS7_ENST00000446183.2_Missense_Mutation_p.Y44N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Missense_Mutation_p.Y128N|RGS7_ENST00000366562.4_Missense_Mutation_p.Y128N NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 128 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) CACTGACCATAATCTGTGTTT 0.373000 131 96 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68514897 68514897 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:68514897G>A ENST00000322244.5 - 14 1196 c.1137C>T c.(1135-1137)ctC>ctT p.L379L NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 CAGTCCAAGAGAGCCAATGCA 0.393000 13 65 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248569879 248569879 + Missense_Mutation SNP T T A rs138350213 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:248569879T>A ENST00000366474.1 + 1 584 c.584T>A c.(583-585)aTa>aAa p.I195K NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGATGATTATAGCAGGTTCC 0.537000 15 139 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170011072 170011072 + Nonsense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:170011072G>A ENST00000263816.3 - 66 12478 c.12193C>T c.(12193-12195)Cga>Tga p.R4065* NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4065 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TTATATTTTCGAATTCGGACA 0.378000 29 58 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969332 140969332 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:140969332G>A ENST00000298296.1 + 4 659 c.659G>A c.(658-660)gGc>gAc p.G220D MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 220 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) ACATACACGGGCTACTTTCCT 0.438000 56 47 0 0 1 0 0 MYO18A 399687 broad.mit.edu 37 17 27447754 27447754 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:27447754G>A ENST00000527372.1 - 7 1788 c.1608C>T c.(1606-1608)taC>taT p.Y536Y MYO18A_ENST00000354329.4_Silent_p.Y536Y|MYO18A_ENST00000533112.1_Silent_p.Y536Y|MYO18A_ENST00000531253.1_Silent_p.Y536Y NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 536 Myosin head-like. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCAGGAGGGTGTACAGAGCCT 0.577000 9 59 0 0 1 0 0 IZUMO2 126123 broad.mit.edu 37 19 50666025 50666025 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:50666025G>A ENST00000293405.3 - 2 278 c.278C>T c.(277-279)aCg>aTg p.T93M NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 93 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 TAAGTGCTGCGTTTGGTTCTT 0.567000 10 48 0 0 1 0 0 PDCL 5082 broad.mit.edu 37 9 125585294 125585294 + Splice_Site SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr9:125585294C>A ENST00000259467.4 - 3 520 c.e3+1 NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 CTGCTAATTACCTTCCCACTG 0.483000 42 60 3.54561e-26 3.87335e-26 1 1 0 CLSTN2 64084 broad.mit.edu 37 3 140282913 140282913 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:140282913G>A ENST00000458420.3 + 16 2783 c.2593G>A c.(2593-2595)Gag>Aag p.E865K NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 865 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CTTCATCCAGGAGACTGAGGC 0.562000 HNSCC(16;0.037) 27 125 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179532370 179532370 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:179532370G>A ENST00000589042.1 - 160 35848 c.35624C>T c.(35623-35625)gCa>gTa p.A11875V TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10008 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATACCTTTTGCTAGTTTGGG 0.294000 18 104 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7117211 7117211 + Silent SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:7117211A>G ENST00000341500.5 - 21 4008 c.3969T>C c.(3967-3969)tgT>tgC p.C1323C INSR_ENST00000302850.5_Silent_p.C1335C NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 1335 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTCCCTCTGACAGTGCGAGG 0.597000 29 56 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14767865 14767865 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:14767865C>T ENST00000261170.3 - 26 3119 c.2983G>A c.(2983-2985)Gag>Aag p.E995K RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 995 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TAGGTAGTCTCATTTCCTCTT 0.483000 4 21 0 0 1 0 0 OMP 4975 broad.mit.edu 37 11 76814045 76814045 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr11:76814045C>T ENST00000529803.1 + 1 160 c.160C>T c.(160-162)Cgc>Tgc p.R54C CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 54 sensory perception of smell|synaptic transmission p.R54C(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GTCTGTGTACCGCCTCAACTT 0.637000 6 30 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 43930620 43930620 + Missense_Mutation SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:43930620G>C ENST00000262726.7 - 30 4434 c.4181C>G c.(4180-4182)gCa>gGa p.A1394G EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A1242G|EFCAB6-AS1_ENST00000431327.3_RNA NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1394 EF-hand 15.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GCTTTCCTTTGCTTTTAGCAG 0.473000 4 53 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51266209 51266209 + Nonsense_Mutation SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:51266209A>T ENST00000266037.9 + 18 1788 c.1765A>T c.(1765-1767)Aaa>Taa p.K589* NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 589 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCGCAGCACCAAAGAGTCTTT 0.517000 14 43 0 0 1 0 0 BCL2L13 23786 broad.mit.edu 37 22 18210180 18210180 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:18210180C>T ENST00000317582.5 + 7 1685 c.1338C>T c.(1336-1338)gcC>gcT p.A446A BCL2L13_ENST00000337612.5_Silent_p.A284A|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000538149.1_Silent_p.A322A|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Silent_p.A284A|BCL2L13_ENST00000355028.3_3'UTR NM_015367.3 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 446 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) TGTCCCCCGCCGGTGAGATGA 0.612000 23 79 0 0 1 0 0 LIPA 3988 broad.mit.edu 37 10 91007301 91007301 + Missense_Mutation SNP C C T rs145756015 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:91007301C>T ENST00000336233.5 - 2 427 c.105G>A c.(103-105)atG>atA p.M35I LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.M35I P38571 LICH_HUMAN lipase A, lysosomal acid, cholesterol esterase 35 lipid catabolic process lysosome lipase activity|sterol esterase activity endometrium(1)|large_intestine(2)|lung(3) 6 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) TTACCACATTCATGTTTGTTT 0.438000 4 21 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25321010 25321010 + RNA SNP G G T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr15:25321010G>T ENST00000549804.2 + 0 1106 GATACCTCAGGATGGTAAGTA 0.463000 12 41 1.61879e-10 1.72494e-10 1 1 0 ATP7A 538 broad.mit.edu 37 X 77268496 77268496 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:77268496C>T ENST00000341514.6 + 10 2448 c.2293C>T c.(2293-2295)Ctt>Ttt p.L765F ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 765 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TTTGATTATTCTTCTAGTTGC 0.423000 59 61 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49699204 49699204 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:49699204C>T ENST00000303221.5 - 6 900 c.685G>A c.(685-687)Gag>Aag p.E229K EMB_ENST00000508934.1_Missense_Mutation_p.E175K|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.E179K NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 229 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CCATCTTCCTCCAAAAGTTGT 0.418000 13 57 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86679590 86679590 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:86679590C>T ENST00000456692.2 + 21 2335 c.2220C>T c.(2218-2220)atC>atT p.I740I RASA1_ENST00000274376.6_Silent_p.I917I|RASA1_ENST00000506290.1_Silent_p.I751I|RASA1_ENST00000512763.1_Silent_p.I750I NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 917 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TGTTCAATATCATCTCAGGTA 0.274000 5 20 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48755296 48755296 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:48755296C>T ENST00000285238.8 + 24 3650 c.3570C>T c.(3568-3570)atC>atT p.I1190I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1190 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCTACATCATCTCCAACCGGT 0.577000 21 149 0 0 1 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122958344 122958344 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:122958344C>G ENST00000543897.1 - 12 3465 c.1110G>C c.(1108-1110)caG>caC p.Q370H ZCCHC8_ENST00000336229.4_Missense_Mutation_p.Q608H|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q219H|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q370H Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 608 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) CTTTTTCCTTCTGACAAAGTG 0.493000 52 147 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263361 140263361 + Missense_Mutation SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:140263361C>A ENST00000289272.2 + 1 1508 c.1508C>A c.(1507-1509)gCg>gAg p.A503E PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A503E|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGCGTGCGCTGTCGAGC 0.672000 19 65 0.000132079 0.000136272 1 1 0 CLIP3 25999 broad.mit.edu 37 19 36508845 36508845 + Missense_Mutation SNP C C T rs149100841 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:36508845C>T ENST00000360535.4 - 10 1459 c.1232G>A c.(1231-1233)cGt>cAt p.R411H CLIP3_ENST00000593074.1_Missense_Mutation_p.R411H|AC002116.7_ENST00000586962.1_RNA NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 411 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGCCCCGTCACGCTGCTGCAA 0.612000 14 49 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8188893 8188893 + Splice_Site SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:8188893C>G ENST00000600128.1 - 23 3146 c.e23-1 FBN3_ENST00000601739.1_Splice_Site|FBN3_ENST00000270509.2_Splice_Site Q75N90 FBN3_HUMAN fibrillin 3 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AATCTCACATCTGCACGGGGG 0.617000 9 15 0 0 1 0 0 UGT1A10 54575 broad.mit.edu 37 2 234545237 234545237 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:234545237C>T ENST00000344644.5 + 1 138 c.69C>T c.(67-69)gcC>gcT p.A23A UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Silent_p.A23A NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) GTGGCTTTGCCGAGGCAGGGA 0.597000 26 89 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36789701 36789701 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr14:36789701C>T ENST00000416007.4 - 1 181 c.94G>A c.(94-96)Gaa>Aaa p.E32K MBIP_ENST00000318473.7_Missense_Mutation_p.E32K|MBIP_ENST00000359527.7_Missense_Mutation_p.E32K NM_001144891.1|NM_016586.2 NP_001138363.1|NP_057670.2 Q9NS73 MBIP1_HUMAN MAP3K12 binding inhibitory protein 1 32 histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) CGAAAGATTTCGTAGAGCACC 0.567000 9 30 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122419588 122419588 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:122419588C>G ENST00000474629.2 + 6 2453 c.2187C>G c.(2185-2187)gaC>gaG p.D729E NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 729 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AGGCAGTGGACATTGTCAAGC 0.408000 3 22 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132204911 132204911 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr6:132204911C>G ENST00000360971.2 + 22 2328 c.2308C>G c.(2308-2310)Caa>Gaa p.Q770E NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 770 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CCAGAGTTTTCAAGGTAAATA 0.274000 21 44 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24873643 24873643 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:24873643G>A ENST00000396432.2 - 26 6061 c.5575C>T c.(5575-5577)Cgc>Tgc p.R1859C NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1858 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTACTGGTGCGTAGGCGTTCC 0.527000 18 74 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875460 247875460 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:247875460A>G ENST00000302084.2 - 1 645 c.598T>C c.(598-600)Ttt>Ctt p.F200L RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GCAATCACAAAGGCCACAAGC 0.537000 20 144 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6696194 6696194 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:6696194A>G ENST00000377577.5 - 15 1760 c.1637T>C c.(1636-1638)cTc>cCc p.L546P DNAJC11_ENST00000377573.5_Missense_Mutation_p.L456P|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Missense_Mutation_p.L494P|DNAJC11_ENST00000542246.1_Missense_Mutation_p.L508P|DNAJC11_ENST00000465508.1_5'UTR NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 546 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TGGTATCCGGAGGGCCTCACT 0.607000 8 38 0 0 1 0 0 ELF2 1998 broad.mit.edu 37 4 139980487 139980487 + Missense_Mutation SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:139980487G>C ENST00000394235.2 - 10 1898 c.1396C>G c.(1396-1398)Ctg>Gtg p.L466V ELF2_ENST00000265495.4_Missense_Mutation_p.L466V|ELF2_ENST00000510408.1_Missense_Mutation_p.L406V|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000379550.1_Missense_Mutation_p.L478V|ELF2_ENST00000379549.2_Missense_Mutation_p.L389V|ELF2_ENST00000358635.3_Missense_Mutation_p.L418V NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 478 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) GATCCAGTCAGATTTGACTTT 0.443000 18 72 0 0 1 0 0 ZCWPW1 55063 broad.mit.edu 37 7 100013666 100013666 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr7:100013666C>T ENST00000398027.2 - 8 930 c.683G>A c.(682-684)cGa>cAa p.R228Q ZCWPW1_ENST00000360951.4_Missense_Mutation_p.R229Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R108Q|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R108Q NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 228 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTTCTTTAGTCGGTCTTCCTG 0.443000 11 130 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55816954 55816954 + Splice_Site SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:55816954G>C ENST00000309383.1 + 16 2167 c.1890G>C c.(1888-1890)tcG>tcC p.S630S BRSK1_ENST00000590333.1_Splice_Site_p.S646S|BRSK1_ENST00000326848.7_Splice_Site_p.S325S NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 630 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.S630S(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CCTTTCTGTCGGTGAGGGGCC 0.557000 55 162 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89845982 89845982 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:89845982G>A ENST00000370456.4 + 6 756 c.663G>A c.(661-663)agG>agA p.R221R GBP6_ENST00000535065.1_Silent_p.R91R NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 221 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) ATTTTCCCAGGGAGTGCATCA 0.408000 7 74 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33572681 33572681 + Missense_Mutation SNP G G C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr20:33572681G>C ENST00000262873.7 + 10 891 c.799G>C c.(799-801)Gag>Cag p.E267Q NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 225 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TCAAATCATCGAGGCCAACCC 0.647000 15 50 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169344916 169344916 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:169344916G>A ENST00000511577.1 - 15 2187 c.1940C>T c.(1939-1941)tCg>tTg p.S647L DDX60L_ENST00000505890.1_Missense_Mutation_p.S647L|DDX60L_ENST00000260184.7_Missense_Mutation_p.S647L Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 647 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) TAAATCTTTCGAAATTTTGCC 0.308000 3 9 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107280 168107280 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:168107280A>G ENST00000409195.1 + 9 9467 c.9378A>G c.(9376-9378)atA>atG p.I3126M XIRP2_ENST00000409273.1_Missense_Mutation_p.I2904M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I3126M|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2951 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTATCACAATAGAATCTACTG 0.443000 18 86 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79375841 79375841 + Nonsense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:79375841G>A ENST00000350881.2 + 20 2815 c.2625G>A c.(2623-2625)tgG>tgA p.W875* CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Nonsense_Mutation_p.W784*|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 875 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) ATGTGGGCTGGAAGGACAAGG 0.597000 9 34 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95751649 95751649 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr8:95751649G>A ENST00000414645.2 + 5 451 c.352G>A c.(352-354)Gaa>Aaa p.E118K NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 118 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) AGGTGTTTACGAACTGACACA 0.313000 7 103 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640412 179640412 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:179640412G>A ENST00000589042.1 - 28 6403 c.6179C>T c.(6178-6180)aCg>aTg p.T2060M TTN_ENST00000360870.5_Missense_Mutation_p.T2060M|TTN_ENST00000342175.6_Missense_Mutation_p.T2014M|TTN_ENST00000591111.1_Missense_Mutation_p.T2060M|TTN_ENST00000359218.5_Missense_Mutation_p.T2014M|TTN_ENST00000460472.2_Missense_Mutation_p.T2014M|TTN_ENST00000342992.6_Missense_Mutation_p.T2060M NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1829 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTGGAATCGTGATTTTGCC 0.423000 17 110 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126239451 126239451 + Silent SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:126239451C>A ENST00000394329.3 + 1 1898 c.1885C>A c.(1885-1887)Cgg>Agg p.R629R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 629 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGAGACTGACCGGAGGTCCTT 0.557000 18 51 1.67942e-08 1.77499e-08 1 1 0 CD6 923 broad.mit.edu 37 11 60781397 60781397 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr11:60781397C>T ENST00000313421.7 + 8 1484 c.1298C>T c.(1297-1299)cCc>cTc p.P433L CD6_ENST00000352009.5_Intron|CD6_ENST00000452451.2_Missense_Mutation_p.P433L|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Intron|CD6_ENST00000344028.5_Intron NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 433 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 TCAGCCCTCCCCGTAATGGTG 0.557000 6 29 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47531966 47531966 + Silent SNP G G C rs143583433 by1000genomes TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr21:47531966G>C ENST00000300527.4 + 3 293 c.189G>C c.(187-189)acG>acC p.T63T COL6A2_ENST00000409416.1_Silent_p.T63T|COL6A2_ENST00000397763.1_Silent_p.T63T|COL6A2_ENST00000310645.5_Silent_p.T63T|COL6A2_ENST00000357838.4_Silent_p.T63T NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 63 Nonhelical region.|VWFA 1. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AGTCCCCCACGGACATCCTGC 0.612000 25 55 0 0 1 0 0 FGF14 2259 broad.mit.edu 37 13 102527614 102527614 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr13:102527614A>G ENST00000376131.4 - 2 336 c.241T>C c.(241-243)Tat>Cat p.Y81H FGF14_ENST00000376143.4_Missense_Mutation_p.Y76H|FGF14_ENST00000468052.1_5'UTR NM_175929.2 NP_787125.1 Q92915 FGF14_HUMAN fibroblast growth factor 14 76 cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction nucleus growth factor activity|heparin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2) 29 all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGCCTGCAATATAACCTGGTC 0.448000 12 45 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64117350 64117350 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:64117350G>A ENST00000371083.4 + 9 1713 c.1345G>A c.(1345-1347)Gag>Aag p.E449K PGM1_ENST00000371084.3_Missense_Mutation_p.E431K|PGM1_ENST00000540265.1_Missense_Mutation_p.E234K|PGM1_ENST00000483707.1_3'UTR NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 431 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GTATGATTACGAGGAGGTGGA 0.498000 10 20 0 0 1 0 0 VWC2 375567 broad.mit.edu 37 7 49951714 49951714 + Missense_Mutation SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr7:49951714A>T ENST00000340652.4 + 4 1467 c.911A>T c.(910-912)tAt>tTt p.Y304F ZPBP_ENST00000491129.1_Intron NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 CACTGTACTTATGAGGAAGGC 0.493000 14 40 0 0 1 0 0 PHGDH 26227 broad.mit.edu 37 1 120254678 120254678 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:120254678C>T ENST00000369409.4 + 1 169 c.33C>T c.(31-33)atC>atT p.I11I NM_006623.3 NP_006614.2 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 11 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) AAGTGCTCATCAGTGACAGCC 0.552000 13 53 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11367412 11367412 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:11367412G>A ENST00000315872.6 - 6 1284 c.836C>T c.(835-837)tCt>tTt p.S279F ROCK2_ENST00000401753.1_Missense_Mutation_p.S36F NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 279 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) AACACCTACAGACCACCAATC 0.363000 53 113 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140140011 140140011 + Nonsense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:140140011C>T ENST00000458420.3 + 5 872 c.682C>T c.(682-684)Cag>Tag p.Q228* NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 228 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CAAACAACACCAGTATGAGAT 0.502000 HNSCC(16;0.037) 34 97 0 0 1 0 0 FAM131A 131408 broad.mit.edu 37 3 184062488 184062488 + Silent SNP C C T rs150189351 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:184062488C>T ENST00000310585.4 + 3 2102 c.738C>T c.(736-738)ggC>ggT p.G246G EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000383847.2_Silent_p.G277G|FAM131A_ENST00000340957.5_Silent_p.G192G|FAM131A_ENST00000418281.1_Silent_p.G154G|FAM131A_ENST00000453072.1_Silent_p.G192G|FAM131A_ENST00000450976.1_Silent_p.G192G Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 246 extracellular region p.G246G(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCTGCTGGGCGATGAGCTGC 0.667000 9 100 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 266745 266745 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:266745C>T ENST00000538872.1 + 7 2446 c.2328C>T c.(2326-2328)ccC>ccT p.P776P IQSEC3_ENST00000326261.4_Silent_p.P776P|IQSEC3_ENST00000382841.2_Silent_p.P473P Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 776 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCCACAACCCCGACACCATCT 0.602000 5 84 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 5 44 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39604116 39604116 + Missense_Mutation SNP T T A rs142592344 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr8:39604116T>A ENST00000265708.4 - 19 2152 c.2049A>T c.(2047-2049)aaA>aaT p.K683N ADAM2_ENST00000379853.2_Missense_Mutation_p.K527N|ADAM2_ENST00000347580.4_Missense_Mutation_p.K664N|ADAM2_ENST00000521880.1_Missense_Mutation_p.K620N NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 683 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ATCTCATTGGTTTGGAATGGT 0.299000 23 113 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125526589 125526589 + Missense_Mutation SNP T T C TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:125526589T>C ENST00000241305.3 - 10 1533 c.1379A>G c.(1378-1380)aAc>aGc p.N460S CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 460 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GAGCAGCGTGTTTAAATCAGG 0.527000 12 57 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876065 2876065 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr8:2876065C>T ENST00000520002.1 - 53 8521 c.7966G>A c.(7966-7968)Gtg>Atg p.V2656M CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2655M|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2656M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2656 Sushi 17. 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) TGAGACCCCACAAGCGTGTAG 0.498000 69 108 0 0 1 0 0 ZNF438 220929 broad.mit.edu 37 10 31137576 31137576 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:31137576C>T ENST00000452305.1 - 8 2291 c.1728G>A c.(1726-1728)ctG>ctA p.L576L ZNF438_ENST00000361310.3_Silent_p.L586L|ZNF438_ENST00000413025.1_Silent_p.L586L|ZNF438_ENST00000444692.2_Silent_p.L576L|ZNF438_ENST00000442986.1_Silent_p.L586L|ZNF438_ENST00000538351.2_Silent_p.L537L|ZNF438_ENST00000331737.6_Silent_p.L576L|ZNF438_ENST00000375311.1_Silent_p.L150L|ZNF438_ENST00000436087.2_Silent_p.L586L NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) GCACTTCTTTCAGATGGCCAA 0.478000 31 88 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193130158 193130158 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:193130158G>A ENST00000342695.4 - 27 3339 c.3017C>T c.(3016-3018)gCc>gTc p.A1006V ATP13A4_ENST00000392443.3_Missense_Mutation_p.A987V|ATP13A4_ENST00000400270.2_Missense_Mutation_p.A22V|ATP13A4_ENST00000482964.1_5'UTR NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1006 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TACTGTGCAGGCACTAAAAGG 0.398000 39 124 0 0 1 0 0 IL2RG 3561 broad.mit.edu 37 X 70331384 70331384 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:70331384C>T ENST00000374202.2 - 1 97 c.6G>A c.(4-6)ttG>ttA p.L2L NM_000206.2 NP_000197.1 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma 2 immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 15 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) ATGATGGCTTCAACATGGCGC 0.552000 Severe Combined Immunodeficiency, X-linked 9 18 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51165497 51165497 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:51165497C>T ENST00000293441.1 - 23 6229 c.6211G>A c.(6211-6213)Ggg>Agg p.G2071R SHANK1_ENST00000391813.1_Missense_Mutation_p.G1458R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G2079R|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.G2062R NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2071 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CGCGAGGCCCCTGACAAGGCT 0.692000 3 28 0 0 1 0 0 DAAM1 23002 broad.mit.edu 37 14 59798179 59798179 + Nonsense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr14:59798179C>T ENST00000395125.1 + 13 1836 c.1813C>T c.(1813-1815)Cag>Tag p.Q605* DAAM1_ENST00000351081.1_Nonsense_Mutation_p.Q605*|DAAM1_ENST00000360909.3_Nonsense_Mutation_p.Q605* NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 605 FH2. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) AAGCATTCCTCAGCCCACAAA 0.532000 25 81 0 0 1 0 0 MIR513A1 574509 broad.mit.edu 37 X 146295085 146295085 + RNA SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:146295085G>A ENST00000385138.1 - 0 24 NR_030231.1 ggcactgtacgctgaatggct 0.433000 3 11 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42486133 42486133 + Missense_Mutation SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr19:42486133C>A ENST00000545399.1 - 9 1311 c.1158G>T c.(1156-1158)caG>caT p.Q386H ATP1A3_ENST00000602133.1_Missense_Mutation_p.Q343H|ATP1A3_ENST00000302102.5_Missense_Mutation_p.Q373H|ATP1A3_ENST00000543770.1_Missense_Mutation_p.Q384H NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 373 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TCATGCGGTTCTGAGTGAGGG 0.597000 8 177 0.000442599 0.000453054 1 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178579179 178579179 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:178579179C>T ENST00000251582.7 - 10 1694 c.1593G>A c.(1591-1593)ggG>ggA p.G531G ADAMTS2_ENST00000274609.5_Silent_p.G531G NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 531 Disintegrin. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CCAAGGGGGGCCCCTTCTTGG 0.592000 6 36 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238269 126238269 + Nonsense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:126238269C>T ENST00000394329.3 + 1 716 c.703C>T c.(703-705)Cag>Tag p.Q235* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 235 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GGGCTACCTTCAGGTAAACGT 0.597000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 36 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606437 6606437 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:6606437C>T ENST00000433363.2 - 5 801 c.568G>A c.(568-570)Ggc>Agc p.G190S SLC13A5_ENST00000381074.4_Missense_Mutation_p.G147S|SLC13A5_ENST00000293800.6_Missense_Mutation_p.G173S|SLC13A5_ENST00000573648.1_Missense_Mutation_p.G190S NM_001284510.1|NM_177550.3 NP_001271439.1|NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 190 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 AGAGTGGGGCCTTCAAAAATC 0.627000 5 56 0 0 1 0 0 BCAS2 10286 broad.mit.edu 37 1 115118216 115118216 + Nonsense_Mutation SNP G G T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:115118216G>T ENST00000369541.3 - 4 461 c.414C>A c.(412-414)taC>taA p.Y138* BCAS2_ENST00000485021.1_5'UTR NM_005872.2 NP_005863.1 O75934 SPF27_HUMAN breast carcinoma amplified sequence 2 138 mRNA processing|RNA splicing, via transesterification reactions nucleolus|spliceosomal complex protein binding biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4) 13 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTACTCATTGTATACTTTCC 0.343000 19 49 1.56452e-12 1.68089e-12 1 1 0 BTG2 7832 broad.mit.edu 37 1 203276391 203276391 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:203276391C>T ENST00000290551.4 + 2 373 c.302C>T c.(301-303)aCc>aTc p.T101I NM_006763.2 NP_006754.1 P78543 BTG2_HUMAN BTG family, member 2 101 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.203) AGCGAGCTGACCCTGTGGGTG 0.642000 6 43 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141694 29141694 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr6:29141694G>A ENST00000377167.2 + 1 384 c.282G>A c.(280-282)tcG>tcA p.S94S NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AGACCATCTCGTATGCTGGTT 0.473000 9 184 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24873919 24873919 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:24873919C>G ENST00000396432.2 - 26 5785 c.5299G>C c.(5299-5301)Gat>Cat p.D1767H NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1766 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TTTAACCGATCTGCTATTTTC 0.463000 19 86 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488251 108488251 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:108488251G>A ENST00000408999.3 + 20 3868 c.3791G>A c.(3790-3792)aGt>aAt p.S1264N RGPD4_ENST00000354986.4_Missense_Mutation_p.S1264N NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1264 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 GATAGTGTCAGTAGTAGCTCA 0.403000 122 253 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859620 46859620 + Nonsense_Mutation SNP G G T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:46859620G>T ENST00000262738.3 - 2 4166 c.4167C>A c.(4165-4167)tgC>tgA p.C1389* CELSR1_ENST00000395964.1_Nonsense_Mutation_p.C1389* NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1389 EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGTCCTCGAAGCACTCGCAGG 0.647000 5 10 0.000602214 0.000611624 1 1 0 PAOX 196743 broad.mit.edu 37 10 135202547 135202547 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:135202547C>T ENST00000480071.2 + 4 986 c.956C>T c.(955-957)tCa>tTa p.S319L PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000278060.5_Silent_p.L403L|PAOX_ENST00000357296.3_Silent_p.L403L|PAOX_ENST00000368539.4_3'UTR NM_207127.1 NP_997010.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 0 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) TTCTGTGTCTCACCCAAGTGC 0.502000 13 210 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310335 178310335 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr5:178310335G>A ENST00000322434.3 + 5 1108 c.882G>A c.(880-882)gtG>gtA p.V294V NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 294 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCATACTGTGGAGAAATGCT 0.378000 31 81 0 0 1 0 0 HSD17B13 345275 broad.mit.edu 37 4 88226451 88226451 + Silent SNP A A T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr4:88226451A>T ENST00000328546.4 - 7 886 c.822T>A c.(820-822)ccT>ccA p.P274P HSD17B13_ENST00000302219.6_Silent_p.P238P NM_178135.3 NP_835236.2 Q7Z5P4 DHB13_HUMAN hydroxysteroid (17-beta) dehydrogenase 13 274 extracellular region binding|oxidoreductase activity endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1) 8 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.000308) AGGCGCGTTCAGGAAGAAACC 0.333000 8 24 0 0 1 0 0 SFTA3 253970 broad.mit.edu 37 14 36946212 36946212 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr14:36946212C>T ENST00000518529.2 - 3 900 c.225G>A c.(223-225)acG>acA p.T75T RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_Intron NM_001101341.1 NP_001094811.1 P0C7M3 SFTA3_HUMAN surfactant associated 3 75 breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 GTGACAGCGTCGTGGGATGCA 0.532000 8 111 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70903954 70903954 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:70903954C>T ENST00000264436.4 - 13 2011 c.1567G>A c.(1567-1569)Gtc>Atc p.V523I ADD2_ENST00000407644.2_Missense_Mutation_p.V523I|ADD2_ENST00000413157.2_Missense_Mutation_p.V523I|ADD2_ENST00000355733.3_Missense_Mutation_p.V523I|ADD2_ENST00000430656.1_Missense_Mutation_p.V539I NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TCGGCAATGACGCTCGCCAGG 0.602000 12 53 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25320984 25320984 + RNA SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr15:25320984C>T ENST00000549804.2 + 0 1080 TTGGCATGGTCTCCTTCAGGC 0.473000 6 28 0 0 1 0 0 EBF3 253738 broad.mit.edu 37 10 131640400 131640400 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr10:131640400G>A ENST00000368648.3 - 13 1397 c.1325C>T c.(1324-1326)aCg>aTg p.T442M EBF3_ENST00000355311.5_Missense_Mutation_p.T451M NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 451 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding p.T442M(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGCTTGTGACGTCTCTGACAC 0.597000 23 73 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155774915 155774915 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:155774915G>A ENST00000437809.1 - 11 1592 c.1470C>T c.(1468-1470)ctC>ctT p.L490L GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.L490L|GON4L_ENST00000368331.1_Silent_p.L490L|GON4L_ENST00000271883.5_Silent_p.L490L NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 490 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GAAATGCAATGAGACTGTCAT 0.458000 28 56 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135802692 135802692 + Splice_Site SNP C C A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr9:135802692C>A ENST00000298552.3 - 4 328 c.e4-1 TSC1_ENST00000545250.1_Splice_Site|TSC1_ENST00000475903.1_Splice_Site|TSC1_ENST00000403810.1_Splice_Site|TSC1_ENST00000440111.2_Splice_Site NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GGGCCACGGTCTAAATCAAGA 0.428000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 12 0.0477658 0.0477658 1 1 0 MCM2 4171 broad.mit.edu 37 3 127325534 127325534 + Silent SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:127325534C>G ENST00000265056.7 + 6 1219 c.975C>G c.(973-975)gtC>gtG p.V325V NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 325 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 TCAGCATGGTCAAGTACAACT 0.612000 26 79 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100200436 100200436 + Missense_Mutation SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr12:100200436C>T ENST00000547776.2 - 4 414 c.415G>A c.(415-417)Gga>Aga p.G139R ANKS1B_ENST00000329257.7_Missense_Mutation_p.G139R|ANKS1B_ENST00000547010.1_Intron NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 139 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TCTGAGTGTCCATATTGAGCT 0.398000 11 35 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107201 121107201 + Silent SNP C C T TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:121107201C>T ENST00000295228.3 + 2 1021 c.975C>T c.(973-975)acC>acT p.T325T NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 325 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) TAGCACCCACCGGCTACTACG 0.617000 26 74 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110709723 110709723 + Missense_Mutation SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:110709723G>A ENST00000331565.4 + 2 657 c.172G>A c.(172-174)Gag>Aag p.E58K RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 58 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GCTGGATGCAGAGGACCGGCC 0.612000 5 15 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859881 46859881 + Silent SNP G G A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:46859881G>A ENST00000262738.3 - 2 3905 c.3906C>T c.(3904-3906)ttC>ttT p.F1302F CELSR1_ENST00000395964.1_Silent_p.F1302F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1302 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGTTGTCGTCGAAGGGCAGCA 0.637000 10 36 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7253548 7253548 + Missense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:7253548C>G ENST00000158762.3 + 20 2270 c.2064C>G c.(2062-2064)atC>atG p.I688M NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 688 Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 ACGCTGACATCGTCACCCTGT 0.672000 14 37 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53348844 53348844 + Missense_Mutation SNP A A G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr16:53348844A>G ENST00000566029.1 + 36 7633 c.7424A>G c.(7423-7425)aAt>aGt p.N2475S CHD9_ENST00000398510.3_Missense_Mutation_p.N2491S|CHD9_ENST00000564845.1_Missense_Mutation_p.N2475S|CHD9_ENST00000447540.1_Missense_Mutation_p.N2476S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2491 Binds A/T-rich DNA. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CCAGTTATTAATCTTAAAGAT 0.428000 19 54 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230450646 230450646 + Missense_Mutation SNP T T A rs72987941 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr2:230450646T>A ENST00000341772.4 - 4 909 c.775A>T c.(775-777)Acc>Tcc p.T259S DNER_ENST00000482831.1_5'UTR NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 259 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.T259P(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGAAGGGGGGTCACACTTCGT 0.517000 4 59 0 0 1 0 0 RTP3 83597 broad.mit.edu 37 3 46542025 46542025 + Nonsense_Mutation SNP C C G TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:46542025C>G ENST00000296142.3 + 2 907 c.335C>G c.(334-336)tCa>tGa p.S112* NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 112 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GAGAACATCTCAAGGATCCTG 0.458000 39 87 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145116147 145116148 + RNA INS - - A rs138980379 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:145116147_145116148insA ENST00000453618.1 + 0 1233_1234 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGTAGATTGTTATTTCGTTTTT 0.416 3 6 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201983027 201983028 + Frame_Shift_Ins INS - - A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:201983027_201983028insA ENST00000359651.3 + 7 4068_4069 c.876_877insA c.(877-879)atgfs p.M293fs RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.M293fs|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.M293fs P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 293 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 ACGAGGGCCTCATGAAGTGGGA 0.574 7 20 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)caafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 132 --- --- --- --- TCTA 6988 broad.mit.edu 37 3 49450045 49450047 + In_Frame_Del DEL TAC TAC - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr3:49450045_49450047delTAC ENST00000273590.3 + 1 407_409 c.186_188delTAC c.(184-189)aataca>aaa p.62_63NT>K RHOA_ENST00000265538.3_Intron|TCTA_ENST00000493381.1_3'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 62 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTACGGGAATACAGTGACCGGG 0.635 30 84 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269890 88269891 + RNA INS - - T rs113056340 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr7:88269890_88269891insT ENST00000390184.1 + 0 56_57 AGAAGGAGCACTTTTTTTTTTT 0.317 3 5 --- --- --- --- C9orf41 138199 broad.mit.edu 37 9 77642981 77642983 + In_Frame_Del DEL CTC CTC - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr9:77642981_77642983delCTC ENST00000376834.3 - 1 327_329 c.175_177delGAG c.(175-177)gagdel p.E59del C9orf41_ENST00000376837.3_In_Frame_Del_p.E59del|C9orf41_ENST00000376830.3_In_Frame_Del_p.E59del NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 59 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 GCTCAAGCCTCTCCTCCTCCTCC 0.695 2 4 --- --- --- --- SPTAN1 6709 broad.mit.edu 37 9 131388682 131388682 + Frame_Shift_Del DEL T T - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr9:131388682delT ENST00000358161.5 + 49 6405 c.6292delT c.(6292-6294)ttcfs p.F2098fs SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.F2093fs|SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.F2098fs Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2093 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GGAGGACCTCTTCCTGACCTT 0.582 38 90 --- --- --- --- ZWILCH 55055 broad.mit.edu 37 15 66820228 66820229 + Frame_Shift_Ins INS - - A TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr15:66820228_66820229insA ENST00000307897.5 + 10 1327_1328 c.947_948insA c.(946-951)acaaaafs p.TK316fs ZWILCH_ENST00000535141.2_Frame_Shift_Ins_p.TK202fs|ZWILCH_ENST00000565627.1_Frame_Shift_Ins_p.TK202fs|ZWILCH_ENST00000446801.2_Frame_Shift_Ins_p.TK202fs NM_017975.3 NP_060445.3 Q9H900 ZWILC_HUMAN zwilch kinetochore protein 316 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 GGTGATTCTACAAAAAAAGACA 0.317 26 46 --- --- --- --- TMEM102 284114 broad.mit.edu 37 17 7340636 7340636 + Frame_Shift_Del DEL G G - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:7340636delG ENST00000323206.1 + 3 1611 c.1338delG c.(1336-1338)gagfs p.E446fs RP11-104H15.7_ENST00000575310.1_RNA|TMEM102_ENST00000396568.1_Frame_Shift_Del_p.E446fs|RP11-104H15.9_ENST00000570444.1_RNA NM_178518.2 NP_848613.1 Q8N9M5 TM102_HUMAN transmembrane protein 102 446 regulation of apoptosis|response to cytokine stimulus|signal transduction cell surface|integral to membrane|intracellular protein binding kidney(1)|lung(3)|skin(1) 5 Prostate(122;0.173) GAGTGCTCGAGGCCGGGACGT 0.697 2 4 --- --- --- --- AC015922.5 0 broad.mit.edu 37 17 15737072 15737073 + RNA INS - - TTTA rs71838018 TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr17:15737072_15737073insTTTA ENST00000584636.1 + 0 316 CTCTATCCTGCTTTATCTTGGA 0.460 2 4 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chr22:30742328_30742330delCTG ENST00000215793.8 - 3 518_520 c.364_366delCAG c.(364-366)cagdel p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 8 97 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123227957 123227974 + In_Frame_Del DEL ATGAGGGAATGGATTTTG ATGAGGGAATGGATTTTG - TCGA-FD-A3SQ-01A-21D-A22Z-08 TCGA-FD-A3SQ-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx cdf17db0-bd6b-4ff7-a06b-3dc3f262ae4f 42025d7c-6875-430f-a4e3-0ef370339cc2 g.chrX:123227957_123227974delATGAGGGAATGGATTTTG ENST00000371160.1 + 32 3847_3864 c.3557_3574delATGAGGGAATGGATTTTG c.(3556-3576)aatgagggaatggattttgac>aac p.EGMDFD1187del STAG2_ENST00000371145.3_In_Frame_Del_p.EGMDFD1224del|STAG2_ENST00000354548.5_In_Frame_Del_p.EGMDFD1118del|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_In_Frame_Del_p.EGMDFD1224del|STAG2_ENST00000371157.3_In_Frame_Del_p.EGMDFD1187del|STAG2_ENST00000371144.3_In_Frame_Del_p.EGMDFD1187del NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 1187 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GAGGATCTTAATGAGGGAATGGATTTTGACACCATGGA 0.353 10 42 --- --- --- ---