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 RBL1 5933 broad.mit.edu 37 20 35668610 35668610 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr20:35668610G>C ENST00000373664.3 - 14 1915 c.1849C>G c.(1849-1851)Cta>Gta p.L617V RBL1_ENST00000344359.3_Missense_Mutation_p.L617V NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 617 Pocket; binds T and E1A.|Spacer. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GGGTGCATTAGAGGAGACATT 0.413000 20 84 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280344 152280344 + Missense_Mutation SNP T T C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:152280344T>C ENST00000368799.1 - 3 7053 c.7018A>G c.(7018-7020)Agc>Ggc p.S2340G FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2340 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTGGAGCTGTCTGCTGAC 0.567000 Ichthyosis 5 434 0 0 1 0 0 C2CD2 25966 broad.mit.edu 37 21 43319171 43319171 + Missense_Mutation SNP T T G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr21:43319171T>G ENST00000380486.3 - 13 2102 c.1861A>C c.(1861-1863)Aag>Cag p.K621Q C2CD2_ENST00000329623.7_Missense_Mutation_p.K466Q NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 621 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 CCTTTATGCTTTTTGGCAGTG 0.627000 10 35 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159789560 159789560 + Missense_Mutation SNP A A T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr4:159789560A>T ENST00000264433.6 + 13 1847 c.1772A>T c.(1771-1773)cAc>cTc p.H591L FNIP2_ENST00000379346.3_Missense_Mutation_p.H614L NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 591 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GCAGAGAGACACAACCCCTGG 0.562000 8 18 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153421925 153421925 + Missense_Mutation SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:153421925C>A ENST00000369951.4 + 5 961 c.901C>A c.(901-903)Cct>Act p.P301T NM_020061.4 NP_064445.2 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 301 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCTTCCACCCTTTGATGGC 0.542000 59 357 9.16383e-17 1.09815e-16 1 1 0 REXO4 57109 broad.mit.edu 37 9 136277437 136277437 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr9:136277437G>T ENST00000371942.3 - 4 1091 c.892C>A c.(892-894)Cct>Act p.P298T REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 298 Exonuclease. nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) AGGTTCTCAGGCCGAATCCCA 0.488000 31 121 2.91434e-09 3.25061e-09 1 1 0 TRERF1 55809 broad.mit.edu 37 6 42224567 42224567 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:42224567C>G ENST00000541110.1 - 12 3107 c.2539G>C c.(2539-2541)Gag>Cag p.E847Q TRERF1_ENST00000340840.2_Missense_Mutation_p.E744Q|TRERF1_ENST00000354325.2_Missense_Mutation_p.E744Q|TRERF1_ENST00000372922.4_Missense_Mutation_p.E827Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.E744Q Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 827 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGAAGATTCTCCACTGTTGGG 0.458000 10 27 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36483543 36483543 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:36483543G>T ENST00000342292.4 - 11 5929 c.5909C>A c.(5908-5910)tCt>tAt p.S1970Y GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1970 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GTCTAGGTGAGAGACGGAATC 0.557000 11 19 1.58986e-06 1.72038e-06 1 1 0 KDM8 79831 broad.mit.edu 37 16 27226311 27226311 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:27226311C>G ENST00000286096.4 + 4 953 c.780C>G c.(778-780)agC>agG p.S260R KDM8_ENST00000441782.2_Missense_Mutation_p.S298R|CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000567785.1_3'UTR NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 260 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen AGTTCATCAGCAAATACATCG 0.502000 10 22 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58022862 58022862 + Silent SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr12:58022862C>A ENST00000341156.4 - 7 1364 c.780G>T c.(778-780)cgG>cgT p.R260R B4GALNT1_ENST00000418555.2_Silent_p.R205R|B4GALNT1_ENST00000449184.3_Intron NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 260 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GTGGGTACAGCCGAGGGTTGG 0.587000 7 11 2.0095e-06 2.15835e-06 1 1 0 TMEM127 55654 broad.mit.edu 37 2 96930910 96930910 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:96930910G>A ENST00000258439.3 - 2 466 c.210C>T c.(208-210)gaC>gaT p.D70D TMEM127_ENST00000432959.1_Silent_p.D70D NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 AGCCCAACACGTCGGAGACCC 0.657000 OREG0014808 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238051 26238051 + RNA SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr8:26238051C>G ENST00000519902.1 - 0 1897 TTACAGCACTCAAGCTGCTTT 0.383000 8 21 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151664463 151664463 + Silent SNP A A C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:151664463A>C ENST00000392800.2 + 2 386 c.132A>C c.(130-132)tcA>tcC p.S44S GALNTL5_ENST00000431418.2_Silent_p.S44S NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 44 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) AGCCTCTGTCAGCTTGGTCCC 0.423000 13 17 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 3 36 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52091167 52091167 + Missense_Mutation SNP A A G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:52091167A>G ENST00000262259.2 + 5 1941 c.1583A>G c.(1582-1584)gAa>gGa p.E528G ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 528 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CATACTGGAGAAAGACACCAT 0.433000 7 25 0 0 1 0 0 METTL7B 196410 broad.mit.edu 37 12 56077752 56077752 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr12:56077752C>T ENST00000394252.3 + 2 863 c.654C>T c.(652-654)tcC>tcT p.S218S NM_152637.2 NP_689850.2 Q6UX53 MET7B_HUMAN methyltransferase like 7B 218 methyltransferase activity kidney(1)|large_intestine(1)|lung(4) 6 CCCAGTTCTCCGAAATCCAAA 0.537000 16 42 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128821529 128821529 + Missense_Mutation SNP A A G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:128821529A>G ENST00000280333.6 + 14 1439 c.1330A>G c.(1330-1332)Aca>Gca p.T444A RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 444 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AAGCAAAACAACAGCGAAGAA 0.398000 35 92 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380675 78380675 + Missense_Mutation SNP A A T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr11:78380675A>T ENST00000278550.7 - 32 7177 c.6715T>A c.(6715-6717)Tat>Aat p.Y2239N NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CGGATGTCATACCGTAGTGGT 0.557000 39 75 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11559988 11559988 + Missense_Mutation SNP A A C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:11559988A>C ENST00000252455.2 + 16 1774 c.1438A>C c.(1438-1440)Acc>Ccc p.T480P PRKCSH_ENST00000591462.1_Missense_Mutation_p.T477P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.T477P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.T487P|PRKCSH_ENST00000589838.1_Missense_Mutation_p.T480P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.T477P NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 480 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CCGCTCCACCACCGTGAGTGC 0.682000 10 38 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73164573 73164573 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr9:73164573C>T ENST00000377110.3 - 24 3799 c.3556G>A c.(3556-3558)Gat>Aat p.D1186N TRPM3_ENST00000377105.1_Missense_Mutation_p.D1045N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D1186N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1213N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1045N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1058N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1048N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1045N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1035N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1048N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1190N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1058N Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TTGAGCTCATCATCGGTTATG 0.393000 14 17 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42676797 42676797 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:42676797G>A ENST00000232978.8 + 12 1290 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 368 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) CTGGAAAGAGGAAATGCAGAG 0.398000 17 30 0 0 1 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238397 26238397 + RNA SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr8:26238397C>T ENST00000519902.1 - 0 1551 GATGTTCCTTCTGTAGAGTTC 0.353000 33 45 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132466879 132466879 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr12:132466879G>C ENST00000333577.4 + 6 2002 c.1893G>C c.(1891-1893)aaG>aaC p.K631N EP400_ENST00000389562.2_Missense_Mutation_p.K594N|EP400_ENST00000330386.6_Missense_Mutation_p.K595N|EP400_ENST00000389561.2_Missense_Mutation_p.K595N|EP400_ENST00000332482.4_Missense_Mutation_p.K558N Q96L91 EP400_HUMAN E1A binding protein p400 631 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCCGGTGAAGACTCAGCAGC 0.647000 14 47 0 0 1 0 0 ZNF622 90441 broad.mit.edu 37 5 16465345 16465345 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr5:16465345G>T ENST00000308683.2 - 1 556 c.430C>A c.(430-432)Ccc>Acc p.P144T NM_033414.2 NP_219482.1 Q969S3 ZN622_HUMAN zinc finger protein 622 144 cytoplasm|nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GCCTTCTTGGGAGACATGGAC 0.622000 34 70 7.11191e-15 8.38396e-15 1 1 0 TJP2 9414 broad.mit.edu 37 9 71836257 71836257 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr9:71836257G>C ENST00000377245.4 + 5 1005 c.797G>C c.(796-798)aGc>aCc p.S266T TJP2_ENST00000265384.7_Missense_Mutation_p.S266T|TJP2_ENST00000453658.2_Missense_Mutation_p.S243T|TJP2_ENST00000348208.4_Missense_Mutation_p.S266T|TJP2_ENST00000535702.1_Missense_Mutation_p.S270T|TJP2_ENST00000539225.1_Missense_Mutation_p.S297T NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 266 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CGGGCCTACAGCCCGGAGTAC 0.736000 3 1 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19009041 19009041 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:19009041G>T ENST00000354791.3 - 28 3188 c.2947C>A c.(2947-2949)Cgt>Agt p.R983S GPR64_ENST00000356606.4_Missense_Mutation_p.R985S|GPR64_ENST00000340581.3_Missense_Mutation_p.R880S|GPR64_ENST00000379876.1_Missense_Mutation_p.R975S|GPR64_ENST00000379873.2_Missense_Mutation_p.R948S|GPR64_ENST00000357991.3_Missense_Mutation_p.R996S|GPR64_ENST00000360279.4_Missense_Mutation_p.R977S|GPR64_ENST00000379878.3_Missense_Mutation_p.R983S|GPR64_ENST00000379869.3_Missense_Mutation_p.R999S|GPR64_ENST00000357544.3_Missense_Mutation_p.R969S Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 999 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AGAGCCATACGGCCTTTCCCA 0.428000 36 91 1.90571e-15 2.26498e-15 1 1 0 ABCC3 8714 broad.mit.edu 37 17 48745185 48745185 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:48745185C>T ENST00000427699.1 + 12 1782 c.1702C>T c.(1702-1704)Cat>Tat p.H568Y ABCC3_ENST00000285238.8_Intron NM_001144070.1 NP_001137542.1 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 0 ABC transmembrane type-1 1. 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) GGCCAGGGCTCATTGGACTCT 0.627000 4 15 0 0 1 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911284 230911284 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:230911284G>A ENST00000295190.4 - 4 1016 c.558C>T c.(556-558)taC>taT p.Y186Y NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 186 integral to membrane|plasma membrane symporter activity p.Y186Y(1) NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TCCTCCAGCCGTACTCTGCGC 0.582000 3 46 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63410258 63410258 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:63410258G>A ENST00000330258.3 - 2 3181 c.2909C>T c.(2908-2910)cCa>cTa p.P970L AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GGCAGGACCTGGCCCCACTGG 0.567000 7 14 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192516720 192516720 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:192516720G>C ENST00000392452.2 - 2 1251 c.931C>G c.(931-933)Cag>Gag p.Q311E NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 311 p.Q309E(2) endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 TTGCAGGCCTGATAGGCCTGC 0.557000 10 25 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139092446 139092446 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr9:139092446C>G ENST00000371746.3 - 2 366 c.248G>C c.(247-249)tGc>tCc p.C83S LHX3_ENST00000371748.5_Missense_Mutation_p.C78S NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 78 inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GTCGTCCTTGCAGTAAACGCT 0.627000 4 19 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 17 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73479980 73479980 + Missense_Mutation SNP A A T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr8:73479980A>T ENST00000523207.1 + 2 599 c.11A>T c.(10-12)aAg>aTg p.K4M NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 4 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATGGCAGAAAAGGCTCCCCCG 0.507000 24 69 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177629 7177629 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr12:7177629C>T ENST00000406697.1 + 15 2369 c.1741C>T c.(1741-1743)Cgc>Tgc p.R581C C1S_ENST00000360817.5_Missense_Mutation_p.R581C|C1S_ENST00000402681.3_Missense_Mutation_p.R414C|C1S_ENST00000328916.3_Missense_Mutation_p.R581C P09871 C1S_HUMAN complement component 1, s subcomponent 581 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TCGTGCTGTTCGCCTCAAGGC 0.527000 11 23 0 0 1 0 0 FAM45A 404636 broad.mit.edu 37 10 120877094 120877094 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:120877094G>A ENST00000361432.2 + 4 422 c.396G>A c.(394-396)aaG>aaA p.K132K FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000535029.1_Silent_p.K132K|FAM45A_ENST00000489988.1_3'UTR NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A 132 breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) TTCTCACAAAGGGGATATGCC 0.423000 36 94 0 0 1 0 0 FAM104B 90736 broad.mit.edu 37 X 55172572 55172572 + Missense_Mutation SNP G G A rs111573608 TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:55172572G>A ENST00000425133.2 - 3 334 c.296C>T c.(295-297)aCc>aTc p.T99I FAM104B_ENST00000477847.2_Missense_Mutation_p.T95I|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Missense_Mutation_p.T97I NM_001166700.1|NM_001166701.1|NM_001166704.1 NP_001160172.1|NP_001160173.1|NP_001160176.1 Q5XKR9 F104B_HUMAN family with sequence similarity 104, member B 0 endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 8 CTCCTTCAAGGTCTGGTTGAT 0.448000 3 39 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6655447 6655447 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr11:6655447G>A ENST00000299441.3 - 3 2299 c.1888C>T c.(1888-1890)Cgc>Tgc p.R630C RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 630 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCATCAATGCGGAATGGGGGA 0.602000 5 47 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28843193 28843193 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:28843193C>G ENST00000422425.2 + 46 3388 c.3344C>G c.(3343-3345)tCt>tGt p.S1115C PLB1_ENST00000541605.1_Missense_Mutation_p.S91C|PLB1_ENST00000327757.5_Missense_Mutation_p.S1126C NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1126 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) AGGGGACTCTCTTGGAGGTGA 0.502000 10 61 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298953 37298953 + Silent SNP A A C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:37298953A>C ENST00000310758.4 - 6 893 c.246T>G c.(244-246)gcT>gcG p.A82A ELMO1_ENST00000448602.1_Silent_p.A82A|ELMO1_ENST00000442504.1_Silent_p.A82A NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 82 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGGCGTTCTGAGCCTTATGGG 0.493000 17 31 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175355 143175355 + Silent SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:143175355G>T ENST00000408916.1 + 1 390 c.390G>T c.(388-390)gtG>gtT p.V130V EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 130 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CAGGGTGGGTGCCCTGGCTCC 0.473000 5 38 5.9392e-07 6.57392e-07 1 1 0 SHROOM3 57619 broad.mit.edu 37 4 77661352 77661352 + Missense_Mutation SNP A A C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr4:77661352A>C ENST00000296043.6 + 5 2979 c.2026A>C c.(2026-2028)Agc>Cgc p.S676R NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 676 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GAGAAGACACAGCAGCCTGGA 0.602000 4 41 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117663566 117663566 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:117663566C>T ENST00000368508.3 - 28 4864 c.4666G>A c.(4666-4668)Gga>Aga p.G1556R GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1550R NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1556 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AACTTACCTCCATTTTTAGTT 0.318000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 20 53 0 0 1 0 0 DEFB123 245936 broad.mit.edu 37 20 30037909 30037909 + Missense_Mutation SNP T T C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr20:30037909T>C ENST00000376309.3 + 2 316 c.136T>C c.(136-138)Tgc>Cgc p.C46R NM_153324.2 NP_697019.1 Q8N688 DB123_HUMAN defensin, beta 123 46 defense response to bacterium extracellular region kidney(1)|lung(2) 3 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CTATGTTTACTGCATAAATAA 0.438000 7 65 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10659603 10659603 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:10659603C>G ENST00000309469.4 + 6 1032 c.859C>G c.(859-861)Ctg>Gtg p.L287V ATG4D_ENST00000540862.1_Intron NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 287 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGTGGCACGCCTGGTGGCCAG 0.647000 8 31 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108788599 108788599 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:108788599G>T ENST00000232603.5 - 9 777 c.695C>A c.(694-696)cCa>cAa p.P232Q MORC1_ENST00000483760.1_Missense_Mutation_p.P232Q NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 232 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.P232L(2) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CCACCTCGCTGGGAAACTGAA 0.353000 5 43 0.014758 0.0152851 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52418832 52418832 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:52418832G>A ENST00000420323.2 + 53 8614 c.8353G>A c.(8353-8355)Gtg>Atg p.V2785M NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2785 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCACCAGTCGGTGTCCAAGAA 0.567000 OREG0015612 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 5 0 0 1 0 0 HTR3C 170572 broad.mit.edu 37 3 183777997 183777997 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:183777997G>C ENST00000318351.1 + 9 1235 c.1201G>C c.(1201-1203)Gat>Cat p.D401H NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 401 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GACCGAGCCAGATGGGGGCTC 0.607000 20 34 0 0 1 0 0 SEMA4D 10507 broad.mit.edu 37 9 92017904 92017904 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr9:92017904G>T ENST00000450295.1 - 4 910 c.134C>A c.(133-135)cCa>cAa p.P45Q SEMA4D_ENST00000455551.2_Missense_Mutation_p.P45Q|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P45Q|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P45Q|SEMA4D_ENST00000343780.4_Missense_Mutation_p.P45Q|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P45Q|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P45Q|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P45Q Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 45 Sema. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 GTAGATGTCTGGCTCATGAAA 0.537000 9 42 1.12685e-05 1.20142e-05 1 1 0 DEFB123 245936 broad.mit.edu 37 20 30037912 30037912 + Missense_Mutation SNP A A T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr20:30037912A>T ENST00000376309.3 + 2 319 c.139A>T c.(139-141)Ata>Tta p.I47L NM_153324.2 NP_697019.1 Q8N688 DB123_HUMAN defensin, beta 123 47 defense response to bacterium extracellular region kidney(1)|lung(2) 3 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGTTTACTGCATAAATAATAA 0.428000 9 67 0 0 1 0 0 IGKV2-30 28919 broad.mit.edu 37 2 89544302 89544302 + RNA SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:89544302C>A ENST00000468494.1 - 0 351 TAAACCCCAACATCCTCAGCC 0.547000 12 100 6.49762e-13 7.59802e-13 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112476781 112476781 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:112476781C>T ENST00000230538.7 - 15 2342 c.1945G>A c.(1945-1947)Gac>Aac p.D649N LAMA4_ENST00000389463.4_Missense_Mutation_p.D642N|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.D642N|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.D642N NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 649 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TAAATTCGGTCAGTGGTGTTC 0.383000 15 42 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321636 52321636 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr8:52321636C>T ENST00000356297.4 - 17 2648 c.2548G>A c.(2548-2550)Gcc>Acc p.A850T PXDNL_ENST00000543296.1_Missense_Mutation_p.A850T NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 850 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGGGGGTCGGCGTGCCGGGTG 0.697000 5 22 0 0 1 0 0 TEX13B 56156 broad.mit.edu 37 X 107224560 107224560 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:107224560G>A ENST00000302917.1 - 3 781 c.689C>T c.(688-690)gCa>gTa p.A230V NM_031273.2 NP_112563.1 Q9BXU2 TX13B_HUMAN testis expressed 13B 230 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 TAATTTGCCTGCTACAATAGC 0.582000 40 129 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213484 21213484 + Nonsense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:21213484G>A ENST00000574002.1 - 12 1710 c.1228C>T c.(1228-1230)Cag>Tag p.Q410* ZP2_ENST00000574091.1_Nonsense_Mutation_p.Q410*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Nonsense_Mutation_p.Q410* Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 410 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CCCTGAGACTGAGCCTCAAAG 0.512000 6 27 0 0 1 0 0 LRRC27 80313 broad.mit.edu 37 10 134165143 134165143 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:134165143C>G ENST00000392638.2 + 8 1249 c.1054C>G c.(1054-1056)Ccg>Gcg p.P352A LRRC27_ENST00000432555.2_Missense_Mutation_p.P193R|LRRC27_ENST00000368614.3_Missense_Mutation_p.P320R|LRRC27_ENST00000368615.3_Missense_Mutation_p.P320R|LRRC27_ENST00000368613.4_Missense_Mutation_p.P320R|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352A|LRRC27_ENST00000368610.3_Missense_Mutation_p.P258R|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368612.1_Missense_Mutation_p.P258R Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 0 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) AGCATCTTACCCGACCTCTTG 0.498000 6 242 0 0 1 0 0 DONSON 29980 broad.mit.edu 37 21 34959902 34959902 + Missense_Mutation SNP C C G rs77196675 TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr21:34959902C>G ENST00000453626.1 - 2 332 c.328G>C c.(328-330)Gat>Cat p.D110H DONSON_ENST00000432378.1_Missense_Mutation_p.D110H|DONSON_ENST00000303113.6_Missense_Mutation_p.D110H|AP000304.12_ENST00000429238.1_Intron|DONSON_ENST00000303071.5_Missense_Mutation_p.D110H Q9NYP3 DONS_HUMAN downstream neighbor of SON 110 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 TGATTAGAATCTAAAAACTGA 0.308000 4 43 0 0 1 0 0 GPR155 151556 broad.mit.edu 37 2 175337920 175337920 + Silent SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:175337920G>T ENST00000392552.2 - 3 871 c.633C>A c.(631-633)ctC>ctA p.L211L GPR155_ENST00000295500.4_Silent_p.L211L|GPR155_ENST00000392551.2_Silent_p.L211L NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 211 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 ATACACGCAGGAGTCCGAGTC 0.348000 6 63 0.0215528 0.0220081 1 1 0 ERAP2 64167 broad.mit.edu 37 5 96244818 96244818 + Silent SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr5:96244818C>A ENST00000437043.3 + 14 2877 c.2166C>A c.(2164-2166)ctC>ctA p.L722L ERAP2_ENST00000379904.4_Silent_p.L677L|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 722 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.L722L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) CTGAAAACCTCAAGGTTTGTG 0.388000 20 28 2.32416e-17 2.80836e-17 1 1 0 IFT140 9742 broad.mit.edu 37 16 1642250 1642250 + Missense_Mutation SNP C C A rs139286030 TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:1642250C>A ENST00000426508.2 - 6 924 c.561G>T c.(559-561)aaG>aaT p.K187N LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR NM_014714.3 NP_055529.2 Q96RY7 IF140_HUMAN intraflagellar transport 140 homolog (Chlamydomonas) 187 breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1) 53 Hepatocellular(780;0.219) AACTGCTCTTCTTCCAGTTAA 0.498000 22 49 1.50039e-11 1.74045e-11 1 1 0 OR7D2 162998 broad.mit.edu 37 19 9296802 9296802 + Silent SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:9296802G>C ENST00000344248.2 + 1 524 c.345G>C c.(343-345)ctG>ctC p.L115L NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 115 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CGCTACTCCTGACCGTGATGG 0.507000 31 71 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158023 26158023 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:26158023G>C ENST00000325250.1 + 2 1108 c.921G>C c.(919-921)ttG>ttC p.L307F NM_173699.3 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 307 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AAGAGGCTTTGAGGGATGAGG 0.527000 6 21 0 0 1 0 0 SOX1 6656 broad.mit.edu 37 13 112722279 112722279 + Nonsense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr13:112722279G>T ENST00000330949.1 + 1 367 c.307G>T c.(307-309)Gag>Tag p.E103* NM_005986.2 NP_005977.2 O00570 SOX1_HUMAN SRY (sex determining region Y)-box 1 103 chromatin organization nucleus core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4) 4 all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231) OV - Ovarian serous cystadenocarcinoma(48;0.132) GTTCATCGACGAGGCCAAGCG 0.632000 10 30 0.000442599 0.00046505 1 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64601059 64601059 + Missense_Mutation SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:64601059C>A ENST00000498707.1 - 21 3469 c.3127G>T c.(3127-3129)Gtt>Ttt p.V1043F ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1015F NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1043 TSP type-1 4. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V1043I(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGAATGGTAACTTTCTCTTGA 0.478000 26 37 1.85244e-09 2.0822e-09 1 1 0 NR1H2 7376 broad.mit.edu 37 19 50881476 50881476 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:50881476C>T ENST00000253727.5 + 5 487 c.252C>T c.(250-252)caC>caT p.H84H NR1H2_ENST00000599105.1_Silent_p.H84H|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.H84H|NR1H2_ENST00000593926.1_Silent_p.H84H|NR1H2_ENST00000411902.2_Intron NM_007121.5 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 84 negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2) 8 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) TGCTGGGCCACGAGCTTTGCC 0.617000 39 115 0 0 1 0 0 DUSP6 1848 broad.mit.edu 37 12 89744426 89744426 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr12:89744426G>A ENST00000279488.7 - 2 2008 c.777C>T c.(775-777)ccC>ccT p.P259P DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Silent_p.P134P|DUSP6_ENST00000547140.1_5'UTR NM_001946.2 NP_001937.2 Q16828 DUS6_HUMAN dual specificity phosphatase 6 259 Tyrosine-protein phosphatase. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(5)|lung(8)|skin(2)|urinary_tract(1) 16 GATCCGAGATGGGGATTTGCT 0.443000 32 107 0 0 1 0 0 TFDP2 7029 broad.mit.edu 37 3 141678556 141678556 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:141678556C>T ENST00000499676.2 - 11 1502 c.831G>A c.(829-831)gcG>gcA p.A277A TFDP2_ENST00000495310.1_Silent_p.A240A|TFDP2_ENST00000479040.1_Silent_p.A276A|TFDP2_ENST00000310282.6_Silent_p.A277A|TFDP2_ENST00000486111.1_Silent_p.A277A|TFDP2_ENST00000467072.1_Silent_p.A277A|TFDP2_ENST00000477292.1_Silent_p.A201A|TFDP2_ENST00000317104.7_Silent_p.A261A|TFDP2_ENST00000397991.4_Silent_p.A309A|TFDP2_ENST00000489671.1_Silent_p.A337A NM_001178139.1 NP_001171610.1 Q14188 TFDP2_HUMAN transcription factor Dp-2 (E2F dimerization partner 2) 337 DCB2.|Dimerization (Potential). cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding kidney(1)|upper_aerodigestive_tract(2) 3 CCAGGGATTTCGCAAGTTTCA 0.423000 5 100 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55184152 55184152 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:55184152C>T ENST00000337714.3 + 2 1560 c.1327C>T c.(1327-1329)Ctg>Ttg p.L443L AKAP1_ENST00000571629.1_Silent_p.L443L|AKAP1_ENST00000539273.1_Silent_p.L443L|AKAP1_ENST00000314126.3_Silent_p.L443L|AKAP1_ENST00000572557.1_Silent_p.L443L NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 443 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GAAGAGCCTTCTGTCCAGCCC 0.622000 8 25 0 0 1 0 0 ZFYVE27 118813 broad.mit.edu 37 10 99511204 99511204 + Missense_Mutation SNP T T A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:99511204T>A ENST00000393677.4 + 8 1065 c.861T>A c.(859-861)ttT>ttA p.F287L ZFYVE27_ENST00000453958.2_Missense_Mutation_p.F287L|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.F169L|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.F201L|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.F194L|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.F292L|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.F255L|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.F287L NM_144588.6 NP_653189.3 Q5T4F4 ZFY27_HUMAN zinc finger, FYVE domain containing 27 287 Necessary for interaction with VAPA and function in cell projections formation. cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane metal ion binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 8 Colorectal(252;0.0846) Epithelial(162;7.08e-10)|all cancers(201;5.18e-08) ATGAAGAGTTTAAAGATGCGA 0.527000 13 9 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129911690 129911690 + Splice_Site SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:129911690C>T ENST00000368654.3 - 8 2032 c.e8+1 MKI67_ENST00000368653.3_Splice_Site NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTTCAACTCACCTTGATGATT 0.463000 41 107 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3808853 3808853 + Splice_Site SNP A A T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:3808853A>T ENST00000262367.5 - 17 4179 c.e17+1 CREBBP_ENST00000382070.3_Splice_Site NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAATTAACTTACTGGAATTCC 0.443000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 11 31 0 0 1 0 0 SOSTDC1 25928 broad.mit.edu 37 7 16502237 16502237 + Missense_Mutation SNP T T C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:16502237T>C ENST00000396652.1 - 5 1341 c.629A>G c.(628-630)aAg>aGg p.K210R SOSTDC1_ENST00000307068.4_Missense_Mutation_p.K186R Q6X4U4 SOSD1_HUMAN sclerostin domain containing 1 186 Wnt receptor signaling pathway central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2) 6 Lung NSC(10;0.185) UCEC - Uterine corpus endometrioid carcinoma (126;0.177) CTGGACTGGCTTGGCAGGTGA 0.502000 89 94 0 0 1 0 0 C3orf67 200844 broad.mit.edu 37 3 58855933 58855933 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:58855933G>C ENST00000472469.1 - 7 1041 c.203C>G c.(202-204)tCt>tGt p.S68C RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.S148C|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.S148C Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 148 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) CCTTCTGCCAGAGAGTGGAGG 0.443000 18 15 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11675950 11675950 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:11675950G>A ENST00000423059.4 - 2 1080 c.829C>T c.(829-831)Cgc>Tgc p.R277C NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A integral to membrane p.R277C(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTCTTCCCGCGTCTCCTTGCT 0.537000 HNSCC(18;0.044) 39 70 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42224703 42224703 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:42224703C>G ENST00000541110.1 - 11 3102 c.2534G>C c.(2533-2535)aGa>aCa p.R845T TRERF1_ENST00000340840.2_Missense_Mutation_p.R742T|TRERF1_ENST00000354325.2_Missense_Mutation_p.R742T|TRERF1_ENST00000372922.4_Missense_Mutation_p.R825T|TRERF1_ENST00000372917.4_Missense_Mutation_p.R742T Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 825 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCCAATACCTCTTTGCTGGAG 0.517000 4 41 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 19999122 19999122 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr13:19999122G>T ENST00000400230.2 - 19 1475 c.1431C>A c.(1429-1431)ttC>ttA p.F477L TPTE2_ENST00000382975.4_Missense_Mutation_p.F437L|TPTE2_ENST00000382978.1_Missense_Mutation_p.F437L|TPTE2_ENST00000457266.2_Missense_Mutation_p.F366L|TPTE2_ENST00000400103.2_Missense_Mutation_p.F366L|TPTE2_ENST00000382977.4_Missense_Mutation_p.F477L|TPTE2_ENST00000390680.2_Missense_Mutation_p.F400L|TPTE2_ENST00000255310.6_Missense_Mutation_p.F400L Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 477 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TGAACCAGAAGAAAAATGGAC 0.279000 3 14 0.115264 0.116064 1 1 0 OPHN1 4983 broad.mit.edu 37 X 67518914 67518914 + Missense_Mutation SNP A A C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:67518914A>C ENST00000355520.5 - 3 820 c.179T>G c.(178-180)tTt>tGt p.F60C OPHN1_ENST00000540071.1_Missense_Mutation_p.F60C NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 60 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 CGTCTGGGAAAATTTCTGAAC 0.378000 9 47 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183387019 183387019 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:183387019G>T ENST00000435564.1 - 1 285 c.85C>A c.(85-87)Cag>Aag p.Q29K PDE1A_ENST00000331935.6_Missense_Mutation_p.Q29K|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000456212.1_Missense_Mutation_p.Q29K|PDE1A_ENST00000410103.1_Missense_Mutation_p.Q29K|PDE1A_ENST00000358139.2_Missense_Mutation_p.Q29K NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 29 Calmodulin-binding (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TTCAGGCGCTGCCACATTTTT 0.413000 9 36 7.48243e-07 8.21933e-07 1 1 0 ATP2B4 493 broad.mit.edu 37 1 203668676 203668676 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:203668676C>G ENST00000357681.5 + 4 1603 c.480C>G c.(478-480)atC>atG p.I160M ATP2B4_ENST00000367218.3_Missense_Mutation_p.I160M|ATP2B4_ENST00000367219.3_Missense_Mutation_p.I160M|ATP2B4_ENST00000391954.2_Missense_Mutation_p.I160M|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I160M NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 160 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TCTCAGTGATCATCGTGGTGT 0.502000 32 77 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57059520 57059520 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:57059520G>A ENST00000436936.1 + 6 890 c.665G>A c.(664-666)aGg>aAg p.R222K NLRC5_ENST00000539144.1_Missense_Mutation_p.R222K|NLRC5_ENST00000308149.7_Missense_Mutation_p.R222K|NLRC5_ENST00000262510.6_Missense_Mutation_p.R222K Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 222 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AAGGGCCCGAGGGTGACCGTG 0.617000 31 80 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6588969 6588969 + Translation_Start_Site SNP T T C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:6588969T>C ENST00000379953.2 + 2 354 c.2T>C c.(1-3)aTg>aCg p.M1T LY86_ENST00000230568.4_Start_Codon_SNP_p.M1T|LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA O95711 LY86_HUMAN lymphocyte antigen 86 1 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) GCCCCCACCATGAAGGGTTTC 0.527000 14 46 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152804295 152804295 + Silent SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:152804295C>G ENST00000367255.5 - 14 1876 c.1275G>C c.(1273-1275)ctG>ctC p.L425L SYNE1_ENST00000367248.3_Silent_p.L415L|SYNE1_ENST00000448038.1_Silent_p.L432L|SYNE1_ENST00000341594.5_Silent_p.L425L|SYNE1_ENST00000265368.4_Silent_p.L425L|SYNE1_ENST00000423061.1_Silent_p.L432L|SYNE1_ENST00000367253.4_Silent_p.L425L|SYNE1_ENST00000466159.2_Silent_p.L425L|SYNE1_ENST00000413186.2_Silent_p.L425L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 425 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTTCCTCTCTCAGGGCCACCT 0.453000 HNSCC(10;0.0054) 31 77 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8100728 8100728 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:8100728C>T ENST00000379328.3 + 3 1270 c.702C>T c.(700-702)ttC>ttT p.F234F GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.F234F NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 234 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CCGGACTCTTCCCCCCCAGCA 0.697000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 15 26 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40773305 40773305 + Missense_Mutation SNP G G T rs146060713 TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr9:40773305G>T ENST00000602553.1 - 5 2264 c.1970C>A c.(1969-1971)cCc>cAc p.P657H ZNF658_ENST00000377626.3_Missense_Mutation_p.P657H|ZNF658_ENST00000441795.1_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACATTCATAGGGTTTCTCCCC 0.423000 48 216 7.34454e-26 9.10221e-26 1 1 0 CDH23 64072 broad.mit.edu 37 10 73326645 73326645 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:73326645G>A ENST00000224721.6 + 6 596 c.591G>A c.(589-591)gaG>gaA p.E197E CDH23_ENST00000299366.7_Silent_p.E237E|CDH23_ENST00000398809.4_Silent_p.E192E|CDH23_ENST00000461841.3_Silent_p.E237E|CDH23_ENST00000398842.3_Silent_p.E192E NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 192 Cadherin 2. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGATCCGGGAGCTGGACTACG 0.657000 9 14 0 0 1 0 0 DEFB123 245936 broad.mit.edu 37 20 30037911 30037911 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr20:30037911C>G ENST00000376309.3 + 2 318 c.138C>G c.(136-138)tgC>tgG p.C46W NM_153324.2 NP_697019.1 Q8N688 DB123_HUMAN defensin, beta 123 46 defense response to bacterium extracellular region kidney(1)|lung(2) 3 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ATGTTTACTGCATAAATAATA 0.428000 8 65 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693316 94693316 + Silent SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr4:94693316C>A ENST00000282020.4 + 16 2949 c.2691C>A c.(2689-2691)acC>acA p.T897T GRID2_ENST00000510992.1_Silent_p.T802T NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 897 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGTTTTCCACCTCGTCAATTG 0.453000 4 67 0.00909568 0.0094883 1 1 0 MMD2 221938 broad.mit.edu 37 7 4965126 4965126 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:4965126G>T ENST00000404774.3 - 2 279 c.85C>A c.(85-87)Cag>Aag p.Q29K MMD2_ENST00000406755.1_Missense_Mutation_p.Q29K|MMD2_ENST00000401401.3_Missense_Mutation_p.Q29K NM_001100600.1 NP_001094070.1 Q8IY49 PAQRA_HUMAN monocyte to macrophage differentiation-associated 2 29 integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) TCTGTGGGCTGGTACCTCTTG 0.597000 41 54 4.64027e-19 5.6541e-19 1 1 0 ZBTB24 9841 broad.mit.edu 37 6 109803086 109803086 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:109803086G>A ENST00000230122.3 - 2 311 c.144C>T c.(142-144)ttC>ttT p.F48F NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 48 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) TGTGGGCCCGGAAATGTACAT 0.468000 16 72 0 0 1 0 0 DEFB112 245915 broad.mit.edu 37 6 50011361 50011361 + Missense_Mutation SNP G G T rs144227676 byFrequency TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:50011361G>T ENST00000322246.4 - 2 268 c.269C>A c.(268-270)aCg>aAg p.T90K NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 90 defense response to bacterium extracellular region p.T90R(1) central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) ATTTGGGTCCGTAGGGTCACA 0.413000 17 37 8.81451e-21 1.08314e-20 1 1 0 ATP10D 57205 broad.mit.edu 37 4 47514600 47514600 + Missense_Mutation SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr4:47514600C>A ENST00000273859.3 + 2 312 c.43C>A c.(43-45)Ctg>Atg p.L15M ATP10D_ENST00000504445.1_Missense_Mutation_p.L15M NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 15 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CTGGCGACGGCTGATCAGAGG 0.517000 3 31 1 1 1 1 0 MBTPS1 8720 broad.mit.edu 37 16 84092936 84092936 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:84092936C>T ENST00000343411.3 - 21 3297 c.2802G>A c.(2800-2802)aaG>aaA p.K934K NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 934 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAGGCTGTGGCTTGGCCCAAG 0.552000 11 22 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 5 31 0 0 1 0 0 SAA2 6289 broad.mit.edu 37 11 18266989 18266989 + Missense_Mutation SNP T T C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr11:18266989T>C ENST00000526900.1 - 4 487 c.304A>G c.(304-306)Aaa>Gaa p.K102E SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron serum amyloid A2 p.K102E(2) central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 CTGCCCCATTTATTGGCAGCC 0.572000 3 49 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42224725 42224725 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:42224725C>G ENST00000541110.1 - 11 3080 c.2512G>C c.(2512-2514)Gaa>Caa p.E838Q TRERF1_ENST00000340840.2_Missense_Mutation_p.E735Q|TRERF1_ENST00000354325.2_Missense_Mutation_p.E735Q|TRERF1_ENST00000372922.4_Missense_Mutation_p.E818Q|TRERF1_ENST00000372917.4_Missense_Mutation_p.E735Q Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 818 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TCATGGTTTTCTAGTTCTGGC 0.517000 3 43 0 0 1 0 0 ARRDC2 27106 broad.mit.edu 37 19 18119170 18119170 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:18119170C>T ENST00000222250.4 + 1 194 c.51C>T c.(49-51)acC>acT p.T17T ARRDC2_ENST00000608009.1_Intron|ARRDC2_ENST00000379656.3_Intron NM_015683.1 NP_056498.1 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 17 endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1) 12 ACGGCGCGACCGCGGGCGTCG 0.706000 4 24 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542765 133542765 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:133542765C>T ENST00000409261.1 - 14 1992 c.1619G>A c.(1618-1620)tGc>tAc p.C540Y NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.C540Y|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 540 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTGCTGGCGCAACTTGTCAG 0.552000 22 86 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117385904 117385904 + Silent SNP T T A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:117385904T>A ENST00000160373.3 - 14 3607 c.3516A>T c.(3514-3516)ctA>ctT p.L1172L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1172 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGAACAGGTCTAGTAGCTGTT 0.403000 6 39 0 0 1 0 0 SEPT4 5414 broad.mit.edu 37 17 56603055 56603055 + Splice_Site SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:56603055C>T ENST00000426861.1 - 4 568 c.e4+1 RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317256.6_Splice_Site|SEPT4_ENST00000580809.1_Splice_Site|SEPT4_ENST00000412945.3_Splice_Site|SEPT4_ENST00000583114.1_Splice_Site|SEPT4_ENST00000393086.1_Splice_Site|SEPT4_ENST00000580844.1_Splice_Site|SEPT4_ENST00000317268.3_Splice_Site|SEPT4_ENST00000457347.2_Splice_Site|SEPT4_ENST00000579371.1_Splice_Site|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_080415.2 NP_536340.1 O43236 SEPT4_HUMAN septin 4 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCTTTCCTTACCTTCAGCACC 0.532000 15 41 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196714954 196714954 + Silent SNP A A G rs1137971 TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:196714954A>G ENST00000367429.4 + 21 3558 c.3318A>G c.(3316-3318)acA>acG p.T1106T NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1106 complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TAGATTCTACAGGAAAATGTG 0.393000 4 125 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202910772 202910772 + Missense_Mutation SNP A A T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:202910772A>T ENST00000340990.5 - 8 1355 c.1057T>A c.(1057-1059)Tat>Aat p.Y353N ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Y353N NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 353 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) GAGACTCCATAGAAGTGGACA 0.502000 13 44 0 0 1 0 0 MAGEA6 4105 broad.mit.edu 37 X 151870250 151870250 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:151870250G>C ENST00000329342.5 + 3 1165 c.940G>C c.(940-942)Gag>Cag p.E314Q NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 314 protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGGGGAAGAGTGAGTCTG 0.572000 64 96 0 0 1 0 0 FBXW9 84261 broad.mit.edu 37 19 12805724 12805724 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:12805724G>A ENST00000380339.3 - 2 474 c.438C>T c.(436-438)tgC>tgT p.C146C FBXW9_ENST00000393261.3_Silent_p.C146C|FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000587955.1_Silent_p.C136C Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 146 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 CCAGCGCAATGCAGGCTGCCG 0.637000 12 16 0 0 1 0 0 TRMT5 57570 broad.mit.edu 37 14 61442508 61442508 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr14:61442508C>G ENST00000261249.6 - 4 1513 c.1129G>C c.(1129-1131)Gaa>Caa p.E377Q RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 377 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) GGTTTTCTTTCTTTTGACAGA 0.448000 26 67 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227924263 227924263 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:227924263G>A ENST00000396625.3 - 28 2448 c.2241C>T c.(2239-2241)ccC>ccT p.P747P COL4A4_ENST00000329662.7_Silent_p.P747P NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 747 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.P747P(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTGGTGAGCCGGGAGGGCCTG 0.552000 18 40 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858930 105858930 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr2:105858930C>T ENST00000258456.1 + 1 731 c.615C>T c.(613-615)ttC>ttT p.F205F NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 205 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 CCGTGTTCTTCGCGCCCTTTG 0.672000 4 26 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8404587 8404587 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr9:8404587G>A ENST00000381196.4 - 33 4703 c.4160C>T c.(4159-4161)gCg>gTg p.A1387V PTPRD_ENST00000356435.5_Missense_Mutation_p.A1387V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A980V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A977V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A977V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1374V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A980V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1365V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A981V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A980V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1387V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1387 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GATTACATTCGCGTATCTATT 0.378000 TSP Lung(15;0.13) 6 31 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24696235 24696235 + Silent SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:24696235C>A ENST00000374409.1 - 7 920 c.666G>T c.(664-666)acG>acT p.T222T STPG1_ENST00000003583.8_Silent_p.T175T|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.T175T|STPG1_ENST00000337248.4_Silent_p.T222T NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 GGCCTGTTGACGTCAGTTTTA 0.413000 24 93 9.57634e-11 1.09336e-10 1 1 0 GPR50 9248 broad.mit.edu 37 X 150349203 150349203 + Missense_Mutation SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:150349203C>A ENST00000218316.3 + 2 1217 c.1148C>A c.(1147-1149)tCt>tAt p.S383Y NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 383 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GACCGTGCCTCTGGCCACCCT 0.587000 11 83 1.58986e-06 1.72038e-06 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29142124 29142124 + Missense_Mutation SNP G G T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:29142124G>T ENST00000377167.2 + 1 814 c.712G>T c.(712-714)Gtg>Ttg p.V238L NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 238 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 GCTTCAGAAAGTGTTTAGGAC 0.448000 24 55 1.66031e-10 1.88081e-10 1 1 0 ACACB 32 broad.mit.edu 37 12 109671619 109671619 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr12:109671619C>T ENST00000338432.7 + 30 4325 c.4206C>T c.(4204-4206)gcC>gcT p.A1402A ACACB_ENST00000377848.3_Silent_p.A1402A|ACACB_ENST00000543201.1_Silent_p.A68A|ACACB_ENST00000377854.5_Silent_p.A1332A O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1402 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TCAGCGAGGCCCGCACCTCCC 0.622000 19 34 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114514536 114514536 + Missense_Mutation SNP G G A rs147397910 byFrequency TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:114514536G>A ENST00000369558.1 + 15 3336 c.3104G>A c.(3103-3105)cGc>cAc p.R1035H HIPK1_ENST00000340480.4_Missense_Mutation_p.R661H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R641H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1001H|HIPK1_ENST00000369559.4_Missense_Mutation_p.R1035H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R990H|HIPK1_ENST00000426820.2_Missense_Mutation_p.R1035H|HIPK1_ENST00000369553.1_Missense_Mutation_p.R641H|HIPK1_ENST00000369555.2_Missense_Mutation_p.R990H Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 1035 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CGAGCTCAACGCGGGGGGACC 0.527000 17 30 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55184265 55184265 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:55184265C>G ENST00000337714.3 + 2 1673 c.1440C>G c.(1438-1440)atC>atG p.I480M AKAP1_ENST00000571629.1_Missense_Mutation_p.I480M|AKAP1_ENST00000539273.1_Missense_Mutation_p.I480M|AKAP1_ENST00000314126.3_Missense_Mutation_p.I480M|AKAP1_ENST00000572557.1_Missense_Mutation_p.I480M NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 480 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GGGCAGGCATCCTGGTGGAAG 0.567000 25 57 0 0 1 0 0 TRMT5 57570 broad.mit.edu 37 14 61442367 61442367 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr14:61442367C>G ENST00000261249.6 - 4 1654 c.1270G>C c.(1270-1272)Gat>Cat p.D424H RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 424 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) GGGTTAGCATCTTTGGAAAAG 0.473000 28 34 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44636612 44636612 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:44636612G>C ENST00000262894.6 + 5 2125 c.1845G>C c.(1843-1845)caG>caC p.Q615H ZNF225_ENST00000592780.1_3'UTR|ZNF225_ENST00000590612.1_Missense_Mutation_p.Q615H NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) ATTCCCATCAGAGGGTTCACA 0.433000 9 31 0 0 1 0 0 SPACA1 81833 broad.mit.edu 37 6 88767426 88767426 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:88767426G>A ENST00000237201.1 + 3 479 c.362G>A c.(361-363)tGt>tAt p.C121Y NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 121 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) CCAACAGATTGTGGCTGTGAG 0.443000 3 30 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42224820 42224820 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:42224820C>T ENST00000541110.1 - 11 2985 c.2417G>A c.(2416-2418)aGa>aAa p.R806K TRERF1_ENST00000340840.2_Missense_Mutation_p.R703K|TRERF1_ENST00000354325.2_Missense_Mutation_p.R703K|TRERF1_ENST00000372922.4_Missense_Mutation_p.R786K|TRERF1_ENST00000372917.4_Missense_Mutation_p.R703K Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 786 ELM2.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGCTTGGAATCTCAAGCCAAT 0.468000 13 55 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13087598 13087598 + Silent SNP T T A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr18:13087598T>A ENST00000506447.1 + 32 6026 c.5946T>A c.(5944-5946)acT>acA p.T1982T CEP192_ENST00000325971.8_Silent_p.T1386T|CEP192_ENST00000430049.2_Silent_p.T1507T|CEP192_ENST00000540847.2_3'UTR NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1577 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AACTATCAACTGTATACTTAT 0.323000 24 68 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92375759 92375759 + Missense_Mutation SNP T T C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr8:92375759T>C ENST00000276609.3 + 13 1720 c.1481T>C c.(1480-1482)aTg>aCg p.M494T SLC26A7_ENST00000309536.2_Missense_Mutation_p.M494T|SLC26A7_ENST00000523719.1_Missense_Mutation_p.M494T|SLC26A7_ENST00000520249.1_3'UTR NM_001282356.1|NM_052832.2 NP_001269285.1|NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 494 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AAGACAGAAATGGACAGTGTA 0.254000 26 55 0 0 1 0 0 KCTD21 283219 broad.mit.edu 37 11 77885010 77885010 + Missense_Mutation SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr11:77885010C>A ENST00000340067.3 - 2 869 c.591G>T c.(589-591)gaG>gaT p.E197D KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA NM_001029859.1 NP_001025030.1 Q4G0X4 KCD21_HUMAN potassium channel tetramerization domain containing 21 197 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2) 11 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) TGTACTCCTCCTCTGGCAGGC 0.567000 14 96 2.61681e-11 3.01141e-11 1 1 0 MBTPS1 8720 broad.mit.edu 37 16 84092935 84092935 + Missense_Mutation SNP G G C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:84092935G>C ENST00000343411.3 - 21 3298 c.2803C>G c.(2803-2805)Cca>Gca p.P935A NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 935 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAAGGCTGTGGCTTGGCCCAA 0.547000 11 20 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4747337 4747337 + Missense_Mutation SNP T T A rs141320697 by1000genomes TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr16:4747337T>A ENST00000304283.4 - 16 2185 c.1891A>T c.(1891-1893)Atg>Ttg p.M631L ANKS3_ENST00000585773.1_Missense_Mutation_p.M558L|ANKS3_ENST00000446014.2_Missense_Mutation_p.M502L NM_133450.3 NP_597707.1 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 631 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 GACTCACCCATCTCACGGACA 0.632000 5 59 0 0 1 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104370 142104370 + RNA SNP A A T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:142104370A>T ENST00000390379.1 - 0 94 TCCTGTCTTCAGGATGTGGAA 0.537000 31 40 0 0 1 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202910771 202910771 + Missense_Mutation SNP T T A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:202910771T>A ENST00000340990.5 - 8 1356 c.1058A>T c.(1057-1059)tAt>tTt p.Y353F ADIPOR1_ENST00000436244.1_Missense_Mutation_p.Y353F NM_015999.4 NP_057083.2 Q96A54 ADR1_HUMAN adiponectin receptor 1 353 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) GGAGACTCCATAGAAGTGGAC 0.507000 13 46 0 0 1 0 0 BTBD6 90135 broad.mit.edu 37 14 105716181 105716181 + Silent SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr14:105716181C>T ENST00000463376.2 + 3 946 c.405C>T c.(403-405)gtC>gtT p.V135V BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Silent_p.V135V|BTBD6_ENST00000392554.3_Silent_p.V210V|BTBD6_ENST00000536364.1_Silent_p.V210V Q96KE9 BTBD6_HUMAN BTB (POZ) domain containing 6 210 BTB. cytoplasmic mRNA processing body endometrium(1)|lung(3) 4 Melanoma(154;0.226) OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391) Epithelial(152;0.18) GCTGGGAGGTCATTGACGCAC 0.602000 5 17 0 0 1 0 0 MAMSTR 284358 broad.mit.edu 37 19 49216976 49216976 + Missense_Mutation SNP C C T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:49216976C>T ENST00000318083.6 - 9 1024 c.961G>A c.(961-963)Gat>Aat p.D321N MAMSTR_ENST00000419611.1_Missense_Mutation_p.D218N|MAMSTR_ENST00000594582.1_Missense_Mutation_p.D153N|MAMSTR_ENST00000356751.4_Missense_Mutation_p.D218N|MAMSTR_ENST00000377367.3_Missense_Mutation_p.D153N Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 321 Pro-rich.|Transcription activation (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 atccTACCATCAGGCTCCACC 0.582000 OREG0025608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 37 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12760939 12760939 + Missense_Mutation SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:12760939G>A ENST00000456935.2 - 17 2184 c.2144C>T c.(2143-2145)tCg>tTg p.S715L MAN2B1_ENST00000221363.4_Missense_Mutation_p.S714L NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 715 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGGCCCCACCGACCACTCTAG 0.612000 4 105 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10405120 10405120 + Missense_Mutation SNP C C G TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr17:10405120C>G ENST00000226207.5 - 25 3314 c.3220G>C c.(3220-3222)Gaa>Caa p.E1074Q RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1074 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TTGTCATTTTCTATATCCATT 0.343000 10 30 0 0 1 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378869 142378869 + RNA SNP T T C TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:142378869T>C ENST00000390398.3 + 0 174 TCTCAAACCATGGGCCATGAC 0.443000 17 88 0 0 1 0 0 TWF2 11344 broad.mit.edu 37 3 52265524 52265524 + Missense_Mutation SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:52265524C>A ENST00000305533.5 - 4 557 c.314G>T c.(313-315)cGg>cTg p.R105L TWF2_ENST00000499914.2_Missense_Mutation_p.R105L|TLR9_ENST00000597542.1_5'UTR NM_007284.3 NP_009215.1 twinfilin actin-binding protein 2 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CACTGTGGCCCGCGTGGCCGC 0.592000 OREG0015610 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 109 0.0215528 0.0220081 1 1 0 CACNB2 783 broad.mit.edu 37 10 18828440 18828440 + Missense_Mutation SNP C C A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr10:18828440C>A ENST00000396576.2 + 13 2106 c.1605C>A c.(1603-1605)caC>caA p.H535Q CACNB2_ENST00000377315.4_Missense_Mutation_p.H542Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.H497Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.H340Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.H538Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.H562Q|CACNB2_ENST00000352115.6_Missense_Mutation_p.H566Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.H590Q|CACNB2_ENST00000377329.4_Missense_Mutation_p.H536Q NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 590 S -> L (in BRS4; loss of function). axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACCACAACCACAGAGACGAGA 0.587000 7 21 0.0293803 0.0297913 1 1 0 LRIF1 55791 broad.mit.edu 37 1 111492503 111492504 + Frame_Shift_Del DEL CT CT - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:111492503_111492504delCT ENST00000369763.4 - 3 2228_2229 c.1838_1839delAG c.(1837-1839)gagfs p.E613fs LRIF1_ENST00000485275.2_Frame_Shift_Del_p.E77fs|LRIF1_ENST00000494675.1_Frame_Shift_Del_p.E77fs|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TCACCATAAACTCTGTCTCTTT 0.371 16 84 --- --- --- --- FAM91A3P 729182 broad.mit.edu 37 1 149263087 149263088 + RNA INS - - T TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr1:149263087_149263088insT ENST00000325963.8 + 0 2634_2635 TGAAACAGAACTACAAGGAGAG 0.411 23 18 --- --- --- --- CCDC66 285331 broad.mit.edu 37 3 56605255 56605257 + In_Frame_Del DEL ATG ATG - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr3:56605255_56605257delATG ENST00000394672.3 + 7 931_933 c.861_863delATG c.(859-864)aaatgg>aag p.W288del CCDC66_ENST00000436465.2_In_Frame_Del_p.W288del|CCDC66_ENST00000326595.7_In_Frame_Del_p.W254del NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 288 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TTTCTGAAAAATGGAATGATCCT 0.271 24 50 --- --- --- --- EPHA5 2044 broad.mit.edu 37 4 66213848 66213866 + Frame_Shift_Del DEL ACATCACTGGCAGAAGTAA ACATCACTGGCAGAAGTAA - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr4:66213848_66213866delACATCACTGGCAGAAGTAA ENST00000273854.3 - 15 3164_3182 c.2564_2582delTTACTTCTGCCAGTGATGT c.(2563-2583)tttacttctgccagtgatgtcfs p.FTSASDV855fs EPHA5_ENST00000354839.4_Frame_Shift_Del_p.FTSASDV833fs|EPHA5_ENST00000432638.2_Frame_Shift_Del_p.FTSASDV692fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.FTSASDV856fs NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 855 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.A858A(1)|p.V861A(1)|p.T856I(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATAACTCCAGACATCACTGGCAGAAGTAAACTTTCGGAA 0.397 TSP Lung(17;0.13) 10 48 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187530334 187530335 + Splice_Site DEL TA TA - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr4:187530334_187530335delTA ENST00000441802.2 - 16 10416 c.e16+1 NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CTTTTTCACTTACCGTTTCTCG 0.455 HNSCC(5;0.00058) 12 14 --- --- --- --- ENPP3 5169 broad.mit.edu 37 6 131958597 131958607 + Splice_Site DEL TGCATTGTAAG TGCATTGTAAG - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr6:131958597_131958607delTGCATTGTAAG ENST00000414305.1 + 2 401_406 c.73_78delTGCATTGTAAG c.(73-78)tgcattdel p.CI25fs ENPP3_ENST00000358229.5_Splice_Site_p.CI25fs|ENPP3_ENST00000543135.1_5'UTR|ENPP3_ENST00000427148.2_5'UTR|ENPP3_ENST00000357639.3_Splice_Site_p.CI25fs O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 25 immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TAAAATAGCTTGCATTGTAAGTACAATTCTT 0.303 8 50 --- --- --- --- DAGLB 221955 broad.mit.edu 37 7 6474597 6474604 + Frame_Shift_Del DEL AAGAGGGT AAGAGGGT - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:6474597_6474604delAAGAGGGT ENST00000297056.6 - 4 636_643 c.467_474delACCCTCTT c.(466-474)gaccctcttfs p.DPL156fs DAGLB_ENST00000425398.2_Intron|DAGLB_ENST00000428902.2_Frame_Shift_Del_p.DPL29fs|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000436575.1_Frame_Shift_Del_p.DPL115fs NM_139179.3 NP_631918.3 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta 156 lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2) 26 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) TTTTCCCCCCAAGAGGGTCAAAGACAAT 0.538 32 68 --- --- --- --- INTS4P1 285905 broad.mit.edu 37 7 64670343 64670344 + RNA INS - - A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:64670343_64670344insA ENST00000587624.1 + 0 1437 CTTAAATTAGGAAAAAAAAAAC 0.351 2 4 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151874111 151874111 + Frame_Shift_Del DEL T T - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr7:151874111delT ENST00000355193.2 - 38 8645 c.8427delA c.(8425-8427)aaafs p.K2809fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2809fs lysine (K)-specific methyltransferase 2C GTGGTGAATGTTTATCAGAGA 0.338 22 57 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49427498 49427502 + Frame_Shift_Del DEL GTGCC GTGCC - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr12:49427498_49427502delGTGCC ENST00000301067.7 - 39 10985_10989 c.10986_10990delGGCAC c.(10984-10992)atggcactafs p.MAL3662fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGTCCAGGTAGTGCCATACCCCCAG 0.654 10 38 --- --- --- --- SKOR2 652991 broad.mit.edu 37 18 44774954 44774963 + Frame_Shift_Del DEL GCTGAGTGTA GCTGAGTGTA - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr18:44774954_44774963delGCTGAGTGTA ENST00000425639.1 - 1 591_600 c.592_601delTACACTCAGC c.(592-603)tacactcagccafs p.YTQP198fs SKOR2_ENST00000400404.1_Frame_Shift_Del_p.YTQP198fs NM_001278063.1 NP_001264992.1 Q2VWA4 SKOR2_HUMAN SKI family transcriptional corepressor 2 198 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|SMAD binding|transcription corepressor activity|transcription repressor activity endometrium(1) 1 GCTGCGTCTGGCTGAGTGTACTTGGCGTCG 0.581 3 3 --- --- --- --- HPN-AS1 100128675 broad.mit.edu 37 19 35565843 35565849 + RNA DEL TCCCCAG TCCCCAG - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr19:35565843_35565849delTCCCCAG ENST00000392227.2 - 0 404 NR_024562.1 TGGAGGCATTTCCCCAGGAGATGGGCC 0.652 3 4 --- --- --- --- SRMS 6725 broad.mit.edu 37 20 62178709 62178709 + Frame_Shift_Del DEL G G - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chr20:62178709delG ENST00000217188.1 - 1 148 c.108delC c.(106-108)cccfs p.P36fs NM_080823.2 NP_543013.1 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites 36 ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1) 19 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGTCAGTGTTGGGGTCCAGGG 0.692 9 20 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54584888 54584892 + Frame_Shift_Del DEL ATTGC ATTGC - TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0224746d-bc54-4055-bd1d-1ad7c33fa24c 33c3c4a5-5485-4ae2-8a3c-7cf4507b847b g.chrX:54584888_54584892delATTGC ENST00000336470.4 + 15 1605_1609 c.1466_1470delATTGC c.(1465-1470)tattgcfs p.YC489fs GNL3L_ENST00000360845.2_Frame_Shift_Del_p.YC489fs NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 489 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 CTCACTGGGTATTGCACCAATCCGA 0.512 18 81 --- --- --- ---