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 MYO16 23026 broad.mit.edu 37 13 109562362 109562362 + Missense_Mutation SNP A A G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr13:109562362A>G ENST00000356711.2 + 16 1849 c.1723A>G c.(1723-1725)Aca>Gca p.T575A MYO16_ENST00000357550.2_Missense_Mutation_p.T575A|MYO16_ENST00000251041.5_Missense_Mutation_p.T575A|MYO16_ENST00000457511.2_Missense_Mutation_p.T87A NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 575 Myosin head-like 1. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CAGAATTTATACATATTTGCT 0.323000 28 64 0 0 1 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40825682 40825682 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:40825682C>G ENST00000293349.6 - 4 899 c.469G>C c.(469-471)Gag>Cag p.E157Q PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.E157Q|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E157Q Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 157 PH. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) CGCCTGCGCTCTGGGCCGGTC 0.672000 29 53 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66610963 66610963 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:66610963C>A ENST00000261233.4 + 6 1022 c.601C>A c.(601-603)Cag>Aag p.Q201K IRAK3_ENST00000457197.2_Missense_Mutation_p.Q140K NM_007199.2 NP_009130.2 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 201 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) GAAAAAAATGCAGTGTAAGAA 0.373000 98 229 6.51614e-51 7.90082e-51 1 1 0 SHANK1 50944 broad.mit.edu 37 19 51201115 51201115 + Nonsense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:51201115G>A ENST00000293441.1 - 12 1864 c.1846C>T c.(1846-1848)Cag>Tag p.Q616* SHANK1_ENST00000359082.3_Nonsense_Mutation_p.Q616*|SHANK1_ENST00000391814.1_Nonsense_Mutation_p.Q616* NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 616 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TTGCTCTCCTGAGAGCGATTC 0.567000 9 33 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1578550 1578550 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:1578550C>G ENST00000572621.1 - 19 3221 c.2956G>C c.(2956-2958)Gag>Cag p.E986Q PRPF8_ENST00000304992.6_Missense_Mutation_p.E986Q Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 986 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TCGATCTTCTCATACATCTTC 0.517000 17 37 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71227802 71227802 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr14:71227802C>A ENST00000554752.2 - 3 917 c.918G>T c.(916-918)aaG>aaT p.K306N MAP3K9_ENST00000555993.2_Missense_Mutation_p.K306N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.K306N|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000554146.1_Missense_Mutation_p.K43N P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 306 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCGCACTCATCTTGGTGGTTC 0.542000 35 93 1.08052e-11 1.22585e-11 1 1 0 EPG5 57724 broad.mit.edu 37 18 43535048 43535048 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr18:43535048C>A ENST00000282041.5 - 2 354 c.320G>T c.(319-321)gGa>gTa p.G107V NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 107 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TCTGGCCTCTCCCCCTTCCTT 0.498000 22 63 5.35356e-11 6.03832e-11 1 1 0 SPSB3 90864 broad.mit.edu 37 16 1827827 1827827 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr16:1827827G>A ENST00000566339.1 - 6 972 c.642C>T c.(640-642)ttC>ttT p.F214F SPSB3_ENST00000301717.4_Silent_p.F214F NM_080861.3 NP_543137.2 Q6PJ21 SPSB3_HUMAN splA/ryanodine receptor domain and SOCS box containing 3 214 B30.2/SPRY. intracellular signal transduction endometrium(1)|kidney(4)|lung(3)|prostate(2) 10 AGCCCTGGCCGAACCGCGATG 0.642000 3 36 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42334906 42334906 + Missense_Mutation SNP C C T rs121912756 TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:42334906C>T ENST00000262418.6 - 13 1593 c.1438G>A c.(1438-1440)Gag>Aag p.E480K NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 480 Membrane (anion exchange). E -> K (in FR(a+) antigen). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) CCGTTGGTCTCGCAGAACTGC 0.607000 20 39 0 0 1 0 0 UAP1 6675 broad.mit.edu 37 1 162558505 162558505 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:162558505C>T ENST00000271469.3 + 7 1353 c.1051C>T c.(1051-1053)Cac>Tac p.H351Y UAP1_ENST00000367924.1_Missense_Mutation_p.H351Y|UAP1_ENST00000367926.4_Missense_Mutation_p.H351Y|UAP1_ENST00000367925.1_Missense_Mutation_p.H351Y Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 351 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TCAGTTGCAGCACCATGTGGC 0.373000 29 75 0 0 1 0 0 GABPB1 2553 broad.mit.edu 37 15 50592997 50592997 + Nonsense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:50592997G>T ENST00000380877.3 - 6 1109 c.686C>A c.(685-687)tCa>tAa p.S229* GABPB1_ENST00000359031.4_Nonsense_Mutation_p.S229*|GABPB1_ENST00000429662.2_Nonsense_Mutation_p.S241*|GABPB1_ENST00000560825.1_Nonsense_Mutation_p.S229*|GABPB1_ENST00000543881.1_Nonsense_Mutation_p.S165*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.S241*|GABPB1_ENST00000396464.3_Nonsense_Mutation_p.S229* NM_005254.5|NM_016654.4 NP_005245.2|NP_057738.1 Q06547 GABP1_HUMAN GA binding protein transcription factor, beta subunit 1 241 positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding cervix(1)|endometrium(1)|large_intestine(7)|lung(5) 14 TGGAGTTTCTGAAGAATTGGA 0.438000 16 42 1.5739e-10 1.76495e-10 1 1 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158619 26158619 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:26158619C>G ENST00000289316.2 + 1 246 c.222C>G c.(220-222)atC>atG p.I74M HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I74M NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 74 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 TCGAGCGCATCGCAGGCGAGG 0.602000 80 168 0 0 1 0 0 BLZF1 8548 broad.mit.edu 37 1 169345966 169345966 + Missense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:169345966G>T ENST00000367808.3 + 3 640 c.217G>T c.(217-219)Gca>Tca p.A73S BLZF1_ENST00000329281.2_Missense_Mutation_p.A73S|BLZF1_ENST00000367807.3_Missense_Mutation_p.A73S Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 73 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) CACTGAAAAAGCAATGGAAGT 0.398000 39 64 1.47244e-24 1.77425e-24 1 1 0 COL9A3 1299 broad.mit.edu 37 20 61461171 61461171 + Splice_Site SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr20:61461171G>A ENST00000343916.3 + 22 1164 c.1161_splice c.e22+1 p.A387_splice NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 387 Triple-helical region 3 (COL3). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) GGGGCTCAGCGGTGAGTGCAG 0.657000 4 5 0 0 1 0 0 SLC22A7 10864 broad.mit.edu 37 6 43269338 43269338 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:43269338C>T ENST00000372585.5 + 7 1064 c.969C>T c.(967-969)gcC>gcT p.A323A SLC22A7_ENST00000372574.3_Silent_p.A321A|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A321A NM_153320.2 NP_696961.2 Q9Y694 S22A7_HUMAN solute carrier family 22 (organic anion transporter), member 7 323 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3) 26 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GCAAAGTGGCCGCCGGGGAAC 0.582000 11 33 0 0 1 0 0 CDK18 5129 broad.mit.edu 37 1 205495568 205495568 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:205495568C>T ENST00000360066.2 + 7 946 c.645C>T c.(643-645)ctC>ctT p.L215L CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L215L|CDK18_ENST00000506784.1_Silent_p.L245L NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 213 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 ATCGGTCCCTCACCCTGGTGT 0.592000 40 94 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50861832 50861832 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:50861832G>A ENST00000253719.2 - 9 1449 c.1241C>T c.(1240-1242)gCg>gTg p.A414V NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 414 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) CTGCGCCTGCGCAGTCTCTCC 0.662000 10 21 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60766302 60766302 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:60766302C>T ENST00000446119.2 + 5 1171 c.152C>T c.(151-153)tCa>tTa p.S51L MRC2_ENST00000303375.5_Silent_p.F1105F|MRC2_ENST00000580916.1_3'UTR Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1185 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CCCATGGCTTCATCTGCCAGA 0.657000 11 22 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17017783 17017783 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:17017783G>A ENST00000443236.1 - 30 4178 c.4147C>T c.(4147-4149)Cgt>Tgt p.R1383C NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1336 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCCAGGCTACGGAGCTTGCGC 0.637000 6 10 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130479621 130479621 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr9:130479621G>C ENST00000373289.3 + 3 280 c.200G>C c.(199-201)aGa>aCa p.R67T TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 67 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 AGCTACTCCAGAGGCCAGCAG 0.657000 7 26 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287306 33287306 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:33287306G>A ENST00000374542.5 - 6 1995 c.1791C>T c.(1789-1791)ttC>ttT p.F597F DAXX_ENST00000266000.6_Silent_p.F597F|DAXX_ENST00000414083.2_Silent_p.F522F NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 597 Interaction with MAP3K5. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 AGACAGTGGTGAAGGGCTCCT 0.522000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 42 75 0 0 1 0 0 IGHV2-5 28457 broad.mit.edu 37 14 106494257 106494257 + RNA SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr14:106494257G>A ENST00000390597.2 - 0 254 GGGCTGTAGCGCTTATCATCA 0.542000 26 69 0 0 1 0 0 GORAB 92344 broad.mit.edu 37 1 170508704 170508704 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:170508704G>A ENST00000367763.3 + 2 510 c.490G>A c.(490-492)Gaa>Aaa p.E164K GORAB_ENST00000367762.1_Missense_Mutation_p.E164K|GORAB_ENST00000465717.1_3'UTR NM_152281.2 NP_689494.2 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting 164 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 AAAGAAAGTGGAATTGTTAGT 0.353000 13 35 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28980884 28980884 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr18:28980884G>C ENST00000359747.4 + 10 1347 c.1318G>C c.(1318-1320)Gat>Cat p.D440H RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D440H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 440 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GTTAAAAATTGATTCAAGAAC 0.308000 23 42 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52497170 52497170 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:52497170G>C ENST00000602063.1 - 6 1508 c.1159C>G c.(1159-1161)Ctt>Gtt p.L387V ZNF615_ENST00000391795.3_Missense_Mutation_p.L392V|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398V|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398V|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387V Q8N8J6 ZN615_HUMAN zinc finger protein 615 387 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TGTGTGATAAGACTGTTCTTC 0.398000 16 45 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431791 135431791 + Nonsense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chrX:135431791G>T ENST00000394143.1 + 6 6217 c.5926G>T c.(5926-5928)Gag>Tag p.E1976* GPR112_ENST00000287534.4_Nonsense_Mutation_p.E1913*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E1976* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1976 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCACACATTTGAGAAAATGAC 0.428000 41 16 3.09479e-21 3.68337e-21 1 1 0 SH2D5 400745 broad.mit.edu 37 1 21048305 21048305 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:21048305C>T ENST00000375031.1 - 9 1624 c.1000G>A c.(1000-1002)Gag>Aag p.E334K SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.E418K NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 334 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCCTGCAGCTCTGCCTCGGAC 0.731000 4 9 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47104856 47104856 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chrX:47104856G>A ENST00000377107.2 + 17 2599 c.2245G>A c.(2245-2247)Gag>Aag p.E749K USP11_ENST00000218348.3_Missense_Mutation_p.E792K P51784 UBP11_HUMAN ubiquitin specific peptidase 11 792 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CACCACTGTGGAGACCCTGGA 0.532000 9 16 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103128364 103128364 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:103128364G>A ENST00000375735.2 + 69 10633 c.10489G>A c.(10489-10491)Gag>Aag p.E3497K DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E3504K|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3497 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CCCCCTGGCTGAGAGTGCCAG 0.438000 9 25 0 0 1 0 0 LRIG3 121227 broad.mit.edu 37 12 59282176 59282176 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:59282176G>A ENST00000320743.3 - 7 1168 c.882C>T c.(880-882)ctC>ctT p.L294L LRIG3_ENST00000379141.4_Silent_p.L234L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 294 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CATTTTGGCTGAGATGAAGTT 0.463000 T ROS1 NSCLC 16 43 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149314 34149314 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chrX:34149314C>T ENST00000346193.3 - 1 1133 c.1082G>A c.(1081-1083)cGt>cAt p.R361H NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 361 p.R361H(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TAGGCGGAGACGGGACACTCC 0.647000 26 19 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868570 22868570 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr22:22868570G>C ENST00000302097.3 - 2 1637 c.1385C>G c.(1384-1386)aCg>aGg p.T462R NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 462 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T462M(1) endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) CTCCTTCAACGTCAAAAACTG 0.423000 35 27 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7717315 7717315 + Missense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:7717315G>T ENST00000338316.4 + 12 1757 c.1668G>T c.(1666-1668)agG>agT p.R556S ADCY2_ENST00000537121.1_Missense_Mutation_p.R376S|RP11-711G10.1_ENST00000514105.2_RNA NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 556 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGAATGAAAGGATGATTCAAG 0.269000 13 44 3.27435e-08 3.58884e-08 1 1 0 FAT1 2195 broad.mit.edu 37 4 187542225 187542225 + Nonsense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr4:187542225C>A ENST00000441802.2 - 10 5724 c.5515G>T c.(5515-5517)Gaa>Taa p.E1839* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1839 Cadherin 16. 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 ATACTTGTTTCTTCATAGTCC 0.373000 HNSCC(5;0.00058) 12 11 2.27111e-07 2.44775e-07 1 1 0 HIST3H2BB 128312 broad.mit.edu 37 1 228645991 228645991 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:228645991G>A ENST00000369160.2 + 1 184 c.161G>A c.(160-162)gGc>gAc p.G54D NM_175055.2 NP_778225.1 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 54 nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) skin(1) 1 Prostate(94;0.183) CCCGACACCGGCATCTCGTCC 0.587000 5 214 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120980009 120980009 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:120980009C>T ENST00000392793.1 + 4 559 c.288C>T c.(286-288)gtC>gtT p.V96V TECTA_ENST00000264037.2_Silent_p.V96V O75443 TECTA_HUMAN tectorin alpha 96 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GAGCCTTCGTCGCCCCATTTT 0.488000 9 35 0 0 1 0 0 MFAP1 4236 broad.mit.edu 37 15 44106836 44106836 + Missense_Mutation SNP T T G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:44106836T>G ENST00000267812.3 - 4 712 c.480A>C c.(478-480)aaA>aaC p.K160N NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 160 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TCTCTTCATTTTTTCTCTCCT 0.458000 63 59 0 0 1 0 0 TIMD4 91937 broad.mit.edu 37 5 156381740 156381740 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:156381740G>A ENST00000274532.2 - 2 142 c.86C>T c.(85-87)aCg>aTg p.T29M TIMD4_ENST00000407087.3_Missense_Mutation_p.T29M NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 29 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAAAACCTCCGTCACAACAGT 0.493000 13 37 0 0 1 0 0 SRF 6722 broad.mit.edu 37 6 43143452 43143452 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:43143452G>A ENST00000265354.4 + 3 1147 c.789G>A c.(787-789)ctG>ctA p.L263L SRF_ENST00000457278.2_Silent_p.L59L NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 263 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGGACACACTGAAGCCGGCGT 0.547000 51 123 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57550690 57550690 + Silent SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:57550690G>C ENST00000243077.3 + 10 2014 c.1548G>C c.(1546-1548)ggG>ggC p.G516G NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 516 EGF-like 3. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCAGTGACGGGAAGTCATGCA 0.657000 12 29 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180377338 180377338 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:180377338G>C ENST00000273654.4 - 12 1511 c.892C>G c.(892-894)Cgt>Ggt p.R298G CCDC39_ENST00000442201.2_Missense_Mutation_p.R214G Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 214 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton p.R298C(1)|p.R214C(1) NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGAATCTTACGAAAATCTTGT 0.348000 11 60 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205145 26205145 + Silent SNP G G A rs143252055 by1000genomes TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:26205145G>A ENST00000360441.4 + 1 288 c.273G>A c.(271-273)ctG>ctA p.L91L NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 91 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) TCTACGCGCTGAAGAGACAGG 0.527000 16 50 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207026158 207026158 + Missense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:207026158G>T ENST00000392222.2 + 3 667 c.292G>T c.(292-294)Gat>Tat p.D98Y EEF1B2_ENST00000236957.5_Missense_Mutation_p.D98Y|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D98Y NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 98 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 TAGTAAAGATGATGATGACAT 0.468000 32 52 1.56442e-22 1.87344e-22 1 1 0 MRPL53 116540 broad.mit.edu 37 2 74699249 74699249 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:74699249G>A ENST00000258105.7 - 3 997 c.336C>T c.(334-336)cgC>cgT p.R112R MRPL53_ENST00000409710.1_3'UTR NM_053050.4 NP_444278.1 Q96EL3 RM53_HUMAN mitochondrial ribosomal protein L53 112 mitochondrion|ribosome central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1) 5 GGCGCTGTCAGCGACCAGTAT 0.547000 25 105 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896836 175896836 + Missense_Mutation SNP T T A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr4:175896836T>A ENST00000359240.3 + 5 830 c.160T>A c.(160-162)Tat>Aat p.Y54N ADAM29_ENST00000404450.4_Missense_Mutation_p.Y54N|ADAM29_ENST00000445694.1_Missense_Mutation_p.Y54N|ADAM29_ENST00000514159.1_Missense_Mutation_p.Y54N NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 54 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTGGCTCTCCTATATCCTGCC 0.522000 15 27 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156760406 156760406 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:156760406G>A ENST00000347377.6 + 21 2768 c.2337G>A c.(2335-2337)ttG>ttA p.L779L CYFIP2_ENST00000318218.6_Silent_p.L804L|CYFIP2_ENST00000541131.1_Silent_p.L704L|CYFIP2_ENST00000442283.2_Silent_p.L64L|CYFIP2_ENST00000435847.2_Silent_p.L478L|CYFIP2_ENST00000522463.1_Silent_p.L583L|CYFIP2_ENST00000377576.3_Silent_p.L779L|CYFIP2_ENST00000521420.1_Silent_p.L753L NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 804 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATAAATCCTTGGACCAAGCTA 0.478000 72 222 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240990401 240990401 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:240990401C>T ENST00000366565.1 - 10 1062 c.681G>A c.(679-681)cgG>cgA p.R227R RGS7_ENST00000407727.1_Silent_p.R227R|RGS7_ENST00000331110.7_Silent_p.R201R|RGS7_ENST00000401882.1_Silent_p.R174R|RGS7_ENST00000446183.2_Silent_p.R143R|RGS7_ENST00000366562.4_Silent_p.R227R|RGS7_ENST00000366563.1_Silent_p.R227R|RGS7_ENST00000348120.2_Silent_p.R174R|RGS7_ENST00000366564.1_Silent_p.R227R NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 227 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTTTTACCTTCCGTGTTTTGT 0.408000 15 36 0 0 1 0 0 DPYSL2 1808 broad.mit.edu 37 8 26492304 26492304 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr8:26492304C>T ENST00000311151.5 + 8 1111 c.699C>T c.(697-699)gcC>gcT p.A233A DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Silent_p.A197A|DPYSL2_ENST00000523027.1_Silent_p.A197A NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 233 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) AGGTCGAGGCCGAAGCCGTGA 0.567000 33 67 0 0 1 0 0 CCDC174 51244 broad.mit.edu 37 3 14708357 14708357 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:14708357G>C ENST00000383794.3 + 7 700 c.627G>C c.(625-627)atG>atC p.M209I CCDC174_ENST00000303688.7_Missense_Mutation_p.M209I NM_016474.4 NP_057558.3 coiled-coil domain containing 174 CTGAAGATATGAGAAAAGAAC 0.413000 37 59 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134660573 134660573 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:134660573C>T ENST00000368586.5 - 43 6230 c.6130G>A c.(6130-6132)Gag>Aag p.E2044K TTC40_ENST00000263170.5_Missense_Mutation_p.E205K NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 205 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 AGCAGCACCTCTGACGCCTGA 0.672000 23 25 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6672621 6672621 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:6672621G>A ENST00000541778.1 - 8 1224 c.736C>T c.(736-738)Ctg>Ttg p.L246L NOP2_ENST00000322166.5_Silent_p.L250L|NOP2_ENST00000399466.2_Silent_p.L246L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Silent_p.L283L|NOP2_ENST00000545200.1_Silent_p.L246L|NOP2_ENST00000537442.1_Silent_p.L250L P46087 NOP2_HUMAN NOP2 nucleolar protein 250 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 AAATCACGCAGAATTCCCACA 0.527000 OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 15 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81444495 81444495 + RNA SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:81444495C>A ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA CCCCTATTCCCCAAGCTCTTC 0.607000 4 10 1 1 1 1 0 DLX5 1749 broad.mit.edu 37 7 96651680 96651680 + Splice_Site SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:96651680C>T ENST00000222598.4 - 2 830 c.355_splice c.e2-1 p.E119_splice DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Splice_Site_p.E119_splice NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 119 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TCACTTCTTTCTCTAAATAAT 0.448000 17 44 0 0 1 0 0 GPR12 2835 broad.mit.edu 37 13 27333245 27333245 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr13:27333245C>T ENST00000405846.3 - 2 941 c.720G>A c.(718-720)acG>acA p.T240T GPR12_ENST00000381436.2_Silent_p.T240T NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 240 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CATAGTGCGACGTGGCCAGGA 0.537000 15 17 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7573984 7573984 + Missense_Mutation SNP A A G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:7573984A>G ENST00000269305.4 - 10 1232 c.1043T>C c.(1042-1044)tTg>tCg p.L348S TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.L348S|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 348 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. L -> F (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; 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.0?(8)|p.L348*(2)|p.I332fs*5(1)|p.?(1)|p.L348fs*1(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTGAGTTCCAAGGCCTCATT 0.592000 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) 10 36 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40917336 40917336 + Missense_Mutation SNP A A G rs144727202 by1000genomes TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:40917336A>G ENST00000346991.5 + 11 5342 c.4952A>G c.(4951-4953)aAg>aGg p.K1651R CASC5_ENST00000399668.2_Missense_Mutation_p.K1625R Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1651 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) GAAAATAAAAAGTCTCATAAT 0.358000 36 87 0 0 1 0 0 POMGNT1 55624 broad.mit.edu 37 1 46656406 46656406 + Silent SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:46656406G>C ENST00000371992.1 - 18 2240 c.1590C>G c.(1588-1590)ctC>ctG p.L530L POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Silent_p.L530L|POMGNT1_ENST00000371986.3_Silent_p.L530L|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Silent_p.L508L NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 530 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) CCACATTCCTGAGCTGGACAC 0.552000 32 56 0 0 1 0 0 SRF 6722 broad.mit.edu 37 6 43143635 43143635 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:43143635G>C ENST00000265354.4 + 3 1330 c.972G>C c.(970-972)aaG>aaC p.K324N SRF_ENST00000457278.2_Missense_Mutation_p.K120N NM_003131.2 NP_003122.1 P11831 SRF_HUMAN serum response factor (c-fos serum response element-binding transcription factor) 324 angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation endoplasmic reticulum protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 12 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CTGTGCTGAAGAGTACAGGCA 0.607000 25 76 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207790136 207790136 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:207790136C>G ENST00000367049.4 + 41 6878 c.6878C>G c.(6877-6879)tCt>tGt p.S2293C CR1_ENST00000367053.1_Missense_Mutation_p.S1843C|CR1_ENST00000367051.1_Missense_Mutation_p.S1843C|CR1_ENST00000367052.1_Missense_Mutation_p.S1843C|CR1_ENST00000400960.2_Missense_Mutation_p.S1843C NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1843 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TGTGAACTTTCTGTTCCTGCT 0.488000 35 89 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77650977 77650977 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr13:77650977C>A ENST00000407578.2 - 68 11998 c.11732G>T c.(11731-11733)gGa>gTa p.G3911V MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000593933.1_RNA NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3873 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GATGAGCTTTCCAAATACCTG 0.378000 12 26 0.00185496 0.00188409 1 1 0 MSH3 4437 broad.mit.edu 37 5 79965953 79965953 + Nonsense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:79965953C>G ENST00000265081.6 + 4 697 c.617C>G c.(616-618)tCa>tGa p.S206* NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 206 Interaction with EXO1. maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TTTGGATCATCAAATACAAGT 0.338000 Mismatch excision repair (MMR) 4 21 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56098196 56098196 + Nonsense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr20:56098196C>A ENST00000426658.2 - 2 1343 c.682G>T c.(682-684)Gag>Tag p.E228* CTCFL_ENST00000371196.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.E23*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.E228*|CTCFL_ENST00000422109.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000433949.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000429804.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000423479.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.E228* Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 228 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) GGTTGATCCTCTTGTTCTTCC 0.388000 32 49 1.30897e-18 1.52976e-18 1 1 0 CDCA7L 55536 broad.mit.edu 37 7 21948040 21948040 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:21948040G>A ENST00000406877.3 - 4 668 c.389C>T c.(388-390)cCt>cTt p.P130L CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P96L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P84L NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 130 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 GCTTCTTCTAGGGGTAGCCTT 0.438000 18 77 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77324641 77324641 + Silent SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:77324641C>G ENST00000558012.1 + 11 1233 c.744C>G c.(742-744)ctC>ctG p.L248L PSTPIP1_ENST00000559295.1_Silent_p.L248L|PSTPIP1_ENST00000379595.3_Silent_p.L248L|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000267939.5_Silent_p.L247L NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 248 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 TGCCCCAGCTCTACGAGGAAG 0.667000 8 59 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112699209 112699209 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:112699209G>A ENST00000550722.1 - 18 2730 c.2335C>T c.(2335-2337)Ctt>Ttt p.L779F HECTD4_ENST00000430131.2_Missense_Mutation_p.L493F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L743F NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGGGTGGCAAGAGCCAAAATA 0.403000 15 42 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013516 73013516 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr4:73013516G>A ENST00000308744.6 + 4 1654 c.1556G>A c.(1555-1557)aGc>aAc p.S519N NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S420N|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S417N NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 519 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ACTACTAACAGCAGTGAGATT 0.338000 22 26 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268756 1268756 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:1268756G>A ENST00000447027.1 + 31 10713 c.10655G>A c.(10654-10656)cGc>cAc p.R3552H MUC5B_ENST00000529681.1_Missense_Mutation_p.R3549H|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3549 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGCAAGACCCGCACCTCGACC 0.687000 4 164 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628301 29628301 + Silent SNP T T C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr20:29628301T>C ENST00000278882.3 + 6 683 c.303T>C c.(301-303)agT>agC p.S101S FRG1B_ENST00000358464.4_Silent_p.S101S|FRG1B_ENST00000439954.2_Silent_p.S106S endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AAGCAAAAAGTAAAACAGCAG 0.353000 5 73 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6031435 6031435 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr20:6031435G>A ENST00000378858.4 - 3 1074 c.850C>T c.(850-852)Ctg>Ttg p.L284L NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 284 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 TTCTGGAACAGAAGGACCTGT 0.458000 38 94 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48438681 48438681 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:48438681C>T ENST00000224605.2 - 1 295 c.30G>A c.(28-30)ccG>ccA p.P10P NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 10 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GCCCGGGTCCCGGGCTGGTCC 0.721000 10 15 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175689193 175689193 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:175689193C>A ENST00000409900.3 - 8 994 c.681G>T c.(679-681)tgG>tgT p.W227C CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.W43C|CHN1_ENST00000295497.7_Missense_Mutation_p.W102C|CHN1_ENST00000409156.3_Missense_Mutation_p.W201C NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 227 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) CAATGAGACCCCACATAAAGT 0.463000 T TAF15 extraskeletal myxoid chondrosarcoma 7 11 0.000274275 0.000284542 1 1 0 ZNF586 54807 broad.mit.edu 37 19 58290907 58290907 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:58290907G>A ENST00000391702.3 + 4 1190 c.823G>A c.(823-825)Gag>Aag p.E275K ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000396154.2_Missense_Mutation_p.E318K NM_001204814.1 NP_001191743.1 Q9NXT0 ZN586_HUMAN zinc finger protein 586 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1) 15 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAAAGGCATGAGTGCGGGCA 0.453000 29 48 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 48 0 0 1 0 0 FARSB 10056 broad.mit.edu 37 2 223436724 223436724 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:223436724C>T ENST00000281828.6 - 17 1899 c.1636G>A c.(1636-1638)Ggg>Agg p.G546R FARSB_ENST00000536361.1_Missense_Mutation_p.G447R NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 546 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) GCACATCGCCCGGGGAAGAAA 0.468000 14 25 0 0 1 0 0 BRINP1 1620 broad.mit.edu 37 9 121929934 121929934 + Missense_Mutation SNP A A T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr9:121929934A>T ENST00000265922.3 - 8 2175 c.1714T>A c.(1714-1716)Tcg>Acg p.S572T DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 572 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CAGCCCTCCGAATGGCTCCCG 0.562000 29 46 0 0 1 0 0 CANX 821 broad.mit.edu 37 5 179143227 179143227 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:179143227C>T ENST00000247461.4 + 8 1043 c.843C>T c.(841-843)gaC>gaT p.D281D CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Silent_p.D281D|CANX_ENST00000504734.1_Silent_p.D281D|CANX_ENST00000512607.2_Silent_p.D173D|CANX_ENST00000415618.2_Silent_p.D316D NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 281 4 X approximate repeats.|P domain (Extended arm) (By similarity). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCCAGAAGACCGGAAGCCCG 0.463000 14 53 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133925400 133925400 + Missense_Mutation SNP G G A rs146594373 TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr8:133925400G>A ENST00000220616.4 + 20 4308 c.4268G>A c.(4267-4269)cGc>cAc p.R1423H TG_ENST00000377869.1_Missense_Mutation_p.R1423H NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1423 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.R1423H(1)|p.R1423L(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAAACCATCCGCTTCCTCCAA 0.557000 18 40 0 0 1 0 0 URI1 8725 broad.mit.edu 37 19 30500249 30500249 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:30500249G>C ENST00000392271.1 + 8 1321 c.796G>C c.(796-798)Gag>Cag p.E266Q URI1_ENST00000360605.4_Missense_Mutation_p.E324Q|URI1_ENST00000312051.6_Missense_Mutation_p.E302Q|URI1_ENST00000542441.2_Missense_Mutation_p.E342Q NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 342 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ACATACTGTTGAGCCTAAGAG 0.323000 5 14 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66233087 66233087 + Missense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr4:66233087G>T ENST00000273854.3 - 10 2512 c.1912C>A c.(1912-1914)Cat>Aat p.H638N EPHA5_ENST00000511294.1_Missense_Mutation_p.H639N|EPHA5_ENST00000354839.4_Missense_Mutation_p.H616N|EPHA5_ENST00000432638.2_Missense_Mutation_p.H475N NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 638 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.H638N(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 TGCCCATTATGAAAATGCATC 0.338000 TSP Lung(17;0.13) 10 20 0.000673444 0.00069126 1 1 0 CDC42EP4 23580 broad.mit.edu 37 17 71282441 71282441 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:71282441C>T ENST00000335793.3 - 2 593 c.199G>A c.(199-201)Gaa>Aaa p.E67K CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 67 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GAGGGCTGTTCGTCCAAGGAC 0.642000 32 74 0 0 1 0 0 FBXW2 26190 broad.mit.edu 37 9 123540631 123540631 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr9:123540631G>A ENST00000373926.3 - 4 870 c.683C>T c.(682-684)gCg>gTg p.A228V FBXW2_ENST00000340778.5_Intron NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 228 proteolysis protein binding|ubiquitin-protein ligase activity ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4 CAACCCACCCGCCCCCGTGTG 0.488000 6 28 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161954039 161954039 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:161954039G>A ENST00000294794.3 - 8 2102 c.1679C>T c.(1678-1680)cCg>cTg p.P560L OLFML2B_ENST00000367938.1_Missense_Mutation_p.P43L|OLFML2B_ENST00000367940.2_Missense_Mutation_p.P561L NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 560 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) CCAGCTGTACGGGAGCTTGTA 0.572000 34 65 0 0 1 0 0 NOP2 4839 broad.mit.edu 37 12 6672578 6672578 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:6672578G>A ENST00000541778.1 - 8 1267 c.779C>T c.(778-780)tCt>tTt p.S260F NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F P46087 NOP2_HUMAN NOP2 nucleolar protein 264 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CAGGTATTCAGAACGAGACCG 0.542000 OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 7 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30825451 30825451 + Missense_Mutation SNP C C T rs111491161 TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:30825451C>T ENST00000265299.6 + 4 583 c.506C>T c.(505-507)cCg>cTg p.P169L INMT-FAM188B_ENST00000458257.1_3'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 169 p.P169L(1)|p.P169Q(1) endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAGACGGTCCCGGGTGAAACT 0.473000 30 140 0 0 1 0 0 WWC2 80014 broad.mit.edu 37 4 184182526 184182526 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr4:184182526G>A ENST00000403733.3 + 11 1949 c.1750G>A c.(1750-1752)Gac>Aac p.D584N WWC2_ENST00000378925.3_Missense_Mutation_p.D486N|WWC2_ENST00000513834.1_Missense_Mutation_p.D584N|WWC2_ENST00000448232.2_Missense_Mutation_p.D584N|WWC2_ENST00000504005.1_Missense_Mutation_p.D266N NM_024949.5 NP_079225.5 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 584 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GTTCACTGCTGACTTTGAAGA 0.483000 6 16 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75923344 75923344 + Missense_Mutation SNP G G C rs143220834 by1000genomes TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr13:75923344G>C ENST00000377636.3 - 5 1716 c.1370C>G c.(1369-1371)cCg>cGg p.P457R TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000425511.1_5'UTR NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 457 PID 2. cytoplasm Rab GTPase activator activity p.P457R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AGAGTGCATCGGGCAGGCCTC 0.478000 15 39 0 0 1 0 0 PIGV 55650 broad.mit.edu 37 1 27121446 27121446 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:27121446C>G ENST00000374145.1 + 3 1603 c.921C>G c.(919-921)atC>atG p.I307M PIGV_ENST00000449950.2_Missense_Mutation_p.I79M|PIGV_ENST00000078527.4_Missense_Mutation_p.I307M NM_001202554.1 NP_001189483.1 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan anchor biosynthesis, class V 307 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 14 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) ACAGCTATATCCAGGATGTCT 0.478000 83 212 0 0 1 0 0 KLK3 354 broad.mit.edu 37 19 51359642 51359642 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:51359642C>A ENST00000360617.3 + 2 193 c.193C>A c.(193-195)Cac>Aac p.H65N KLK3_ENST00000597483.1_Missense_Mutation_p.H65N|KLK3_ENST00000593997.1_Missense_Mutation_p.H65N|KLK3_ENST00000326003.2_Missense_Mutation_p.H65N|KLK3_ENST00000595952.1_Missense_Mutation_p.H65N P07288 KLK3_HUMAN kallikrein-related peptidase 3 65 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) CACAGCTGCCCACTGCATCAG 0.612000 30 86 3.65163e-15 4.16715e-15 1 1 0 SDHAP1 255812 broad.mit.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:195711423A>G ENST00000427841.1 - 0 524 NR_003264.2 CTCTTGTACTAGAAACAGACC 0.552000 6 39 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73039678 73039678 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:73039678G>A ENST00000335350.6 + 2 596 c.180G>A c.(178-180)gtG>gtA p.V60V UNC5B_ENST00000373192.4_Silent_p.V60V NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 60 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CCTACATTGTGAAGAACAAGC 0.622000 41 88 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413189 124413189 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:124413189C>T ENST00000306842.2 - 1 386 c.362G>A c.(361-363)cGc>cAc p.R121H NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GGCCACGTAGCGGTCATACGC 0.502000 23 51 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7568329 7568329 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr16:7568329C>A ENST00000340209.4 + 2 520 c.223C>A c.(223-225)Cag>Aag p.Q75K RBFOX1_ENST00000436368.2_Missense_Mutation_p.Q90K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Q106K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.Q113K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Q90K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Q90K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.Q106K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.Q113K Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 70 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 CCCTCCCGCCCAGACGCACTC 0.642000 50 154 3.88204e-17 4.48283e-17 1 1 0 KEAP1 9817 broad.mit.edu 37 19 10600019 10600019 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:10600019G>C ENST00000171111.5 - 5 2104 c.1557C>G c.(1555-1557)atC>atG p.I519M KEAP1_ENST00000393623.2_Missense_Mutation_p.I519M NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CAGCAGCATAGATACAGTTGT 0.577000 9 42 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51741298 51741298 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:51741298C>T ENST00000251076.5 - 43 9281 c.8994G>A c.(8992-8994)atG>atA p.M2998I DMXL2_ENST00000449909.3_Missense_Mutation_p.M2362I|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.M2999I NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2998 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TGTCAATCTGCATGACTCCAG 0.458000 22 99 0 0 1 0 0 MSH5-SAPCD1 100532732 broad.mit.edu 37 6 31729648 31729648 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:31729648C>T ENST00000493662.2 + 23 2342 c.2286C>T c.(2284-2286)tgC>tgT p.C762C MSH5_ENST00000431848.2_Silent_p.C444C|MSH5_ENST00000375755.3_Silent_p.C745C|MSH5_ENST00000375740.3_Intron|MSH5_ENST00000395853.1_Silent_p.C419C|MSH5_ENST00000375742.3_Silent_p.C762C|MSH5_ENST00000375750.3_Silent_p.C745C|MSH5_ENST00000375703.3_Silent_p.C746C|MSH5_ENST00000534153.4_Silent_p.C762C|MSH5-SAPCD1_ENST00000491552.1_Intron ATCAGGTTTGCGAAGGTGTTG 0.507000 51 89 0 0 1 0 0 TYW1 55253 broad.mit.edu 37 7 66479369 66479369 + Missense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:66479369G>T ENST00000359626.5 + 5 555 c.391G>T c.(391-393)Gtc>Ttc p.V131F NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 131 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) TAGTAAAAATGTCTGTGTCTT 0.383000 12 53 0.00136819 0.001397 1 1 0 ITGA5 3678 broad.mit.edu 37 12 54797556 54797556 + Silent SNP T T C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:54797556T>C ENST00000293379.4 - 17 1890 c.1629A>G c.(1627-1629)acA>acG p.T543T RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 543 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GAAGTTCCACTGTGAAACCTG 0.557000 28 62 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110422190 110422190 + Nonsense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr8:110422190G>T ENST00000378402.5 + 19 2172 c.2068G>T c.(2068-2070)Gaa>Taa p.E690* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 690 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAGAGACTATGAAACTGATTT 0.294000 HNSCC(38;0.096) 5 6 0.000602214 0.000621434 1 1 0 DND1 373863 broad.mit.edu 37 5 140052314 140052314 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:140052314G>A ENST00000542735.1 - 3 363 c.320C>T c.(319-321)tCg>tTg p.S107L NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 107 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCGCCTCGAGCTGTAGCG 0.687000 8 17 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193039614 193039614 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:193039614C>A ENST00000342358.4 - 16 1888 c.1771G>T c.(1771-1773)Gcc>Tcc p.A591S NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 591 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GTGATGATGGCTTCCACTGGA 0.473000 34 52 9.8876e-21 1.16963e-20 1 1 0 MAPKBP1 23005 broad.mit.edu 37 15 42117612 42117612 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:42117612G>A ENST00000457542.2 + 31 4791 c.4505G>A c.(4504-4506)cGg>cAg p.R1502Q RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341Q|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508Q NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1508 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCCGTGGAACGGCGTATGGAA 0.592000 19 28 0 0 1 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197305 26197305 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:26197305C>T ENST00000377831.5 - 2 627 c.174G>A c.(172-174)tcG>tcA p.S58S HIST1H3D_ENST00000356476.2_Silent_p.S58S NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 58 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) GCAGCTCGGTCGACTTCTGGT 0.627000 42 82 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115222935 115222935 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:115222935C>A ENST00000369538.3 - 5 846 c.799G>T c.(799-801)Gac>Tac p.D267Y AMPD1_ENST00000353928.6_Missense_Mutation_p.D238Y|AMPD1_ENST00000520113.2_Missense_Mutation_p.D271Y NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 238 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) AAGAAGGTGTCCAGATTTGGG 0.408000 28 51 3.80469e-20 4.4734e-20 1 1 0 OR10H1 26539 broad.mit.edu 37 19 15918304 15918304 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:15918304G>A ENST00000334920.2 - 1 632 c.544C>T c.(544-546)Cca>Tca p.P182S NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 AACAGAGGTGGCACATGGCAA 0.577000 22 70 0 0 1 0 0 EGR2 1959 broad.mit.edu 37 10 64573021 64573021 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:64573021G>A ENST00000242480.3 - 2 1702 c.1377C>T c.(1375-1377)agC>agT p.S459S EGR2_ENST00000411732.1_Silent_p.S409S|EGR2_ENST00000439032.1_Silent_p.S459S NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 459 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) CGCCAAGACTGCTGCTGTTAC 0.657000 42 93 0 0 1 0 0 C1RL 51279 broad.mit.edu 37 12 7249421 7249421 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:7249421C>G ENST00000266542.4 - 6 1122 c.1030G>C c.(1030-1032)Gag>Cag p.E344Q C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 344 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGCTGCAGCTCCAGGAGGGCG 0.612000 29 59 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335044 42335044 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:42335044C>T ENST00000262418.6 - 12 1569 c.1414G>A c.(1414-1416)Gag>Aag p.E472K NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 472 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AAGGCTTCCTCAAACACCAGC 0.612000 18 19 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79363221 79363221 + RNA SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:79363221G>C ENST00000444841.1 - 0 1117 GGAAGGGCCAGAACAGGGGCA 0.483000 8 19 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11143985 11143985 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:11143985G>A ENST00000358026.2 + 26 3850 c.3566G>A c.(3565-3567)cGa>cAa p.R1189Q SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189Q NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1189 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.R1189Q(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCGCAGGACCGAGCCCACCGC 0.612000 """F, N, Mis""" NSCLC 43 70 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129904082 129904082 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:129904082C>G ENST00000368654.3 - 13 6397 c.6022G>C c.(6022-6024)Gtg>Ctg p.V2008L MKI67_ENST00000368653.3_Missense_Mutation_p.V1648L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2008 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTTCTTTCACACCTACTTTC 0.493000 83 199 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959134 10959134 + Missense_Mutation SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:10959134G>T ENST00000240615.2 - 1 758 c.446C>A c.(445-447)gCa>gAa p.A149E NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 149 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CAGTACTATTGCTGCTATAAG 0.398000 15 37 4.7546e-09 5.27082e-09 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25457036 25457036 + RNA SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:25457036G>C ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 ACCTAGGTGAGAAATTTGGAG 0.512000 65 215 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28090877 28090877 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:28090877C>T ENST00000263181.6 - 11 1809 c.1519G>A c.(1519-1521)Gag>Aag p.E507K NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 507 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTAGTATTCTCATCAAATTGC 0.403000 11 33 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170003273 170003273 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:170003273C>G ENST00000263816.3 - 69 13072 c.12787G>C c.(12787-12789)Gat>Cat p.D4263H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4263 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACTCTCCTATCAGTCCCATCA 0.333000 19 64 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66326839 66326839 + RNA SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:66326839C>T ENST00000504911.1 - 0 220 ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA CACATTGCCGCGCTGGCCCAG 0.736000 8 17 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64368958 64368958 + Splice_Site SNP A A T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:64368958A>T ENST00000377574.1 + 10 2345 c.e10-1 SLC22A12_ENST00000473690.1_Splice_Site|SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000377567.2_Splice_Site NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CTTCCTGAACAGGGCAGTAAA 0.587000 4 20 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79427630 79427630 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:79427630C>T ENST00000307745.7 + 29 6100 c.6100C>T c.(6100-6102)Ccg>Tcg p.P2034S TGAGGCACCCCCGCCTAGTGA 0.592000 6 13 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17779326 17779326 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr6:17779326G>A ENST00000378814.5 - 32 3904 c.3905C>T c.(3904-3906)aCt>aTt p.T1302I KIF13A_ENST00000378826.2_Missense_Mutation_p.T1315I|KIF13A_ENST00000378816.5_Missense_Mutation_p.T1315I|KIF13A_ENST00000259711.6_Missense_Mutation_p.T1315I|KIF13A_ENST00000378843.2_Missense_Mutation_p.T1302I NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1315 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TATCTCCTCAGTTGCCTACGA 0.473000 9 18 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73296482 73296482 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr9:73296482G>A ENST00000377110.2 - 9 1528 c.1285C>T c.(1285-1287)Cgg>Tgg p.R429W TRPM3_ENST00000377111.2_Missense_Mutation_p.R429W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R301W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R301W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R276W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R301W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R276W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R456W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R276W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R301W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R276W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R431W NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 454 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 GATCCCATCCGAAATACCGTA 0.393000 11 43 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 5 197 1.23904e-05 1.31352e-05 1 1 0 SLC9A3R2 9351 broad.mit.edu 37 16 2087943 2087943 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr16:2087943G>C ENST00000424542.2 + 7 1110 c.972G>C c.(970-972)caG>caC p.Q324H SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.Q218H|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.Q213H|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.Q313H NM_001130012.2|NM_004785.5 NP_001123484.1|NP_004776.3 Q15599 NHRF2_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 324 protein complex assembly apical plasma membrane|endomembrane system|nucleus beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding central_nervous_system(1)|endometrium(1) 2 GCGCGCCACAGATGGACTGGA 0.642000 8 27 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121086086 121086086 + Silent SNP T T A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:121086086T>A ENST00000392870.2 + 2 440 c.111T>A c.(109-111)ccT>ccA p.P37P NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 37 N-terminal. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) TGAAGTTCCCTCACATTAGCC 0.562000 14 29 0 0 1 0 0 MRPL22 29093 broad.mit.edu 37 5 154330430 154330430 + Nonsense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:154330430C>T ENST00000523037.1 + 3 168 c.127C>T c.(127-129)Cga>Tga p.R43* MRPL22_ENST00000522038.1_Nonsense_Mutation_p.R49*|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Nonsense_Mutation_p.R69* NM_014180.3 NP_054899.2 Q9NWU5 RM22_HUMAN mitochondrial ribosomal protein L22 43 translation large ribosomal subunit|mitochondrion structural constituent of ribosome central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2) 10 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGACATTTCTCGAAAATGGGA 0.393000 15 37 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170715727 170715727 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:170715727C>T ENST00000314251.3 - 11 1619 c.1540G>A c.(1540-1542)Gaa>Aaa p.E514K SLC2A2_ENST00000382808.4_Missense_Mutation_p.E395K NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 514 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) AATTTCATTTCTACAGCAGCT 0.378000 22 105 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41988704 41988704 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:41988704C>A ENST00000219905.7 + 3 1677 c.1496C>A c.(1495-1497)tCt>tAt p.S499Y MGA_ENST00000570161.1_Missense_Mutation_p.S499Y|MGA_ENST00000566586.1_Missense_Mutation_p.S499Y|MGA_ENST00000389936.4_Missense_Mutation_p.S499Y|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.S499Y NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 499 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAGGATAAATCTTCTATGTTG 0.408000 17 70 0.00741294 0.00745135 1 1 0 SMYD1 150572 broad.mit.edu 37 2 88367419 88367419 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:88367419C>G ENST00000419482.2 + 1 121 c.36C>G c.(34-36)ttC>ttG p.F12L SMYD1_ENST00000444564.2_Missense_Mutation_p.F12L|SMYD1_ENST00000438570.1_Missense_Mutation_p.F12L NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 TGGAGGTCTTCACCGCTGAGG 0.512000 80 242 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509073 71509073 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr4:71509073G>A ENST00000396073.3 + 9 2211 c.1930G>A c.(1930-1932)Gac>Aac p.D644N ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 644 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AAATACCCCAGACCAGAAGGA 0.438000 43 126 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11833298 11833298 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:11833298C>A ENST00000262442.3 + 63 12061 c.11993C>A c.(11992-11994)cCt>cAt p.P3998H DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.P310H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3998 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCACCCTCCCCTGAGGGCCAC 0.602000 13 27 0.00010058 0.000105473 1 1 0 GIMAP2 26157 broad.mit.edu 37 7 150389761 150389761 + Silent SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:150389761G>A ENST00000223293.5 + 3 481 c.387G>A c.(385-387)gtG>gtA p.V129V NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 129 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CACAGAGGGTGAAGGAGATCT 0.552000 21 34 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183273362 183273362 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:183273362G>C ENST00000341319.3 - 1 115 c.80C>G c.(79-81)tCt>tGt p.S27C NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 27 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) CTCATCTGTAGAAGGTGCCAG 0.522000 46 196 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419270 37419270 + Silent SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:37419270G>T ENST00000374660.1 + 3 405 c.306G>T c.(304-306)ctG>ctT p.L102L ANKRD30A_ENST00000602533.1_Silent_p.L102L|ANKRD30A_ENST00000361713.1_Silent_p.L102L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 158 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGGCAAAACTGCTGTCCCATG 0.378000 14 36 7.93312e-07 8.45618e-07 1 1 0 THOC6 79228 broad.mit.edu 37 16 3076099 3076099 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr16:3076099G>A ENST00000326266.8 + 4 552 c.256G>A c.(256-258)Gat>Aat p.D86N THOC6_ENST00000574549.1_Missense_Mutation_p.D62N|THOC6_ENST00000253952.9_Missense_Mutation_p.D86N|THOC6_ENST00000575576.1_Missense_Mutation_p.D62N NM_024339.3 NP_077315.2 Q86W42 THOC6_HUMAN THO complex 6 homolog (Drosophila) 86 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 13 GGTTTCCACCGATCGACATCT 0.557000 66 139 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41620989 41620989 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr22:41620989G>C ENST00000216237.5 + 11 1428 c.1270G>C c.(1270-1272)Gaa>Caa p.E424Q NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 424 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGTCTACACAGAAGGCGGTTG 0.592000 30 41 0 0 1 0 0 BAG3 9531 broad.mit.edu 37 10 121411304 121411304 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr10:121411304C>T ENST00000369085.3 + 1 423 c.117C>T c.(115-117)ttC>ttT p.F39F NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 39 WW 1. anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GGCCCTTCTTCGTGGACCACA 0.706000 16 28 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75980260 75980260 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:75980260G>A ENST00000308508.5 - 3 3238 c.3146C>T c.(3145-3147)tCg>tTg p.S1049L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1049 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AGCAAAGCCCGAGTCAGCATC 0.647000 39 105 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49059980 49059980 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:49059980G>A ENST00000262013.7 - 25 3350 c.3142C>T c.(3142-3144)Cat>Tat p.H1048Y SPAG9_ENST00000510283.1_Missense_Mutation_p.H891Y|SPAG9_ENST00000505279.1_Missense_Mutation_p.H1038Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.H1034Y NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 1048 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CGGATGGAATGATGAGGCCGT 0.413000 4 106 0 0 1 0 0 SLC39A11 201266 broad.mit.edu 37 17 70645094 70645094 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:70645094C>T ENST00000542342.2 - 9 886 c.798G>A c.(796-798)ggG>ggA p.G266G SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.G259G NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 266 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 CGCTCAGCTGCCCATACCTAA 0.622000 7 14 0 0 1 0 0 SNX10 29887 broad.mit.edu 37 7 26412152 26412152 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:26412152C>T ENST00000338523.4 + 7 753 c.566C>T c.(565-567)tCa>tTa p.S189L SNX10_ENST00000409838.1_Missense_Mutation_p.S105L|SNX10_ENST00000446848.2_Missense_Mutation_p.S215L|SNX10_ENST00000396376.1_Missense_Mutation_p.S189L|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.S149L|AC004540.4_ENST00000451368.1_RNA|AC004540.4_ENST00000451264.1_RNA NM_001199835.1|NM_013322.2 NP_001186764.1|NP_037454.2 Q9Y5X0 SNX10_HUMAN sorting nexin 10 189 cell communication|endosome organization|protein transport extrinsic to endosome membrane 1-phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 6 GACAGCAGTTCACATGGATGT 0.373000 77 143 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91804414 91804414 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr14:91804414C>G ENST00000389857.6 - 10 1071 c.985G>C c.(985-987)Gag>Cag p.E329Q NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 329 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) AGCTCCAGCTCCAGCCTCTCC 0.642000 19 44 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69101126 69101126 + Missense_Mutation SNP A A T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:69101126A>T ENST00000543976.1 - 1 358 c.112T>A c.(112-114)Tgg>Agg p.W38R TMF1_ENST00000398559.2_Missense_Mutation_p.W38R|CTD-2013N24.2_ENST00000595925.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 38 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) GTCTCGGCCCAGATGCTCGGC 0.602000 48 36 0 0 1 0 0 MSL2 55167 broad.mit.edu 37 3 135870279 135870279 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:135870279G>A ENST00000309993.2 - 2 2176 c.1444C>T c.(1444-1446)Cct>Tct p.P482S MSL2_ENST00000434835.2_Missense_Mutation_p.P408S NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 482 histone H4-K16 acetylation MSL complex zinc ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 GAGTAGCAAGGGCAGCGTTGG 0.483000 12 39 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 6 30 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100899883 100899883 + Missense_Mutation SNP C C G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr9:100899883C>G ENST00000343933.5 - 3 546 c.289G>C c.(289-291)Gag>Cag p.E97Q CORO2A_ENST00000375077.4_Missense_Mutation_p.E97Q NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 97 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GAGGCGATCTCAAAATCATCA 0.542000 56 127 0 0 1 0 0 AGT 183 broad.mit.edu 37 1 230846356 230846356 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:230846356C>T ENST00000366667.4 - 2 455 c.241G>A c.(241-243)Gaa>Aaa p.E81K NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 81 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) AGGGCCTTTTCATCCACAGGG 0.562000 25 55 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41012549 41012549 + Missense_Mutation SNP A A C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:41012549A>C ENST00000372699.3 + 5 805 c.554A>C c.(553-555)aAa>aCa p.K185T ZNF684_ENST00000493756.1_3'UTR NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) ACAAGGAAAAAACCTTTTGAA 0.368000 14 38 0 0 1 0 0 CYB5R2 51700 broad.mit.edu 37 11 7694000 7694000 + Silent SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:7694000C>A ENST00000533558.1 - 2 613 c.57G>T c.(55-57)ccG>ccT p.P19P CYB5R2_ENST00000524790.1_Silent_p.P19P|CYB5R2_ENST00000299498.6_Silent_p.P19P|CYB5R2_ENST00000299497.9_Silent_p.P19P Q6BCY4 NB5R2_HUMAN cytochrome b5 reductase 2 19 FAD-binding FR-type. sterol biosynthetic process membrane|soluble fraction cytochrome-b5 reductase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCAAGGGCAGCGGGTACTTGG 0.552000 9 46 1.08611e-07 1.17712e-07 1 1 0 ZNF521 25925 broad.mit.edu 37 18 22804708 22804708 + Silent SNP G G T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr18:22804708G>T ENST00000361524.3 - 4 3322 c.3174C>A c.(3172-3174)ggC>ggA p.G1058G ZNF521_ENST00000584787.1_Silent_p.G838G|ZNF521_ENST00000538137.2_Silent_p.G1058G NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1058 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGACGTGCTGGCCCCGCCCTG 0.502000 T PAX5 ALL 15 33 1.05317e-09 1.17422e-09 1 1 0 ECE2 9718 broad.mit.edu 37 3 184003327 184003327 + Missense_Mutation SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr3:184003327C>T ENST00000402825.3 + 10 1564 c.1564C>T c.(1564-1566)Cgc>Tgc p.R522C ECE2_ENST00000404464.3_Missense_Mutation_p.R404C|ECE2_ENST00000359140.4_Missense_Mutation_p.R375C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.R450C NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 522 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCTGGACCGACGCTTTGAGTC 0.498000 53 56 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93712182 93712182 + Nonsense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr14:93712182C>A ENST00000334746.5 - 10 2879 c.2572G>T c.(2572-2574)Gag>Tag p.E858* BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E432*|BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E507* NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 858 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ACTTGCTTCTCAGAtgctgct 0.532000 19 41 1.67942e-08 1.85117e-08 1 1 0 VPS25 84313 broad.mit.edu 37 17 40925508 40925508 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:40925508C>T ENST00000253794.2 + 1 55 c.15C>T c.(13-15)ttC>ttT p.F5F NM_032353.2 NP_115729.1 Q9BRG1 VPS25_HUMAN vacuolar protein sorting 25 homolog (S. cerevisiae) 5 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endosome membrane|nucleoplasm breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1) 5 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) CGATGAGTTTCGAGTGGCCGT 0.622000 47 105 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151378561 151378561 + Missense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:151378561C>A ENST00000271715.2 - 19 3264 c.2950G>T c.(2950-2952)Gct>Tct p.A984S POGZ_ENST00000368863.2_Missense_Mutation_p.A889S|POGZ_ENST00000361398.3_Missense_Mutation_p.A931S|POGZ_ENST00000531094.1_Missense_Mutation_p.A922S|POGZ_ENST00000491586.1_Missense_Mutation_p.A940S|POGZ_ENST00000540984.1_Missense_Mutation_p.A346S|POGZ_ENST00000409503.1_Missense_Mutation_p.A975S|POGZ_ENST00000392723.1_Missense_Mutation_p.A931S NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 984 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCATAGAGCAAACAGTACT 0.532000 25 64 6.21321e-17 7.13233e-17 1 1 0 FAM171B 165215 broad.mit.edu 37 2 187611928 187611928 + Missense_Mutation SNP G G C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:187611928G>C ENST00000304698.5 + 4 878 c.675G>C c.(673-675)ttG>ttC p.L225F NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 225 integral to membrane DNA binding p.L225L(1) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AACAGTTTTTGAAAGTGGACA 0.313000 13 12 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899702 4899702 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:4899702C>T ENST00000404991.1 - 1 1923 c.1737G>A c.(1735-1737)gtG>gtA p.V579V RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 579 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) CATTGGTATTCACCTGTTGCA 0.468000 22 89 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518661 108518661 + Missense_Mutation SNP T T C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr13:108518661T>C ENST00000375915.2 - 1 422 c.284A>G c.(283-285)cAg>cGg p.Q95R NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 95 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 ctgccgccgctgctgctgctg 0.731000 3 43 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48524979 48524979 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:48524979G>A ENST00000396577.3 + 8 1246 c.1031G>A c.(1030-1032)gGa>gAa p.G344E SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G344E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G344E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G344E NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 344 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTCTTCATTGGAACTGTCATT 0.343000 26 76 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74360219 74360219 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr9:74360219G>A ENST00000377044.4 - 4 1288 c.749C>T c.(748-750)tCa>tTa p.S250L TMEM2_ENST00000377066.5_Missense_Mutation_p.S250L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 250 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GGGCAAGCCTGAGGAATTCAG 0.507000 17 34 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7651747 7651747 + Silent SNP C C T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:7651747C>T ENST00000359156.4 - 4 697 c.495G>A c.(493-495)ggG>ggA p.G165G CD163_ENST00000541972.1_Silent_p.G153G|CD163_ENST00000396620.3_Silent_p.G165G|CD163_ENST00000432237.2_Silent_p.G165G NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 165 SRCR 2. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AACACATATTCCCTCCACGCG 0.403000 53 149 0 0 1 0 0 SHANK1 50944 broad.mit.edu 37 19 51201121 51201121 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:51201121G>A ENST00000293441.1 - 12 1858 c.1840C>T c.(1840-1842)Cgc>Tgc p.R614C SHANK1_ENST00000359082.3_Missense_Mutation_p.R614C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R614C NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 614 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.R614C(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCTGAGAGCGATTCGCCACT 0.572000 7 35 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78610397 78610397 + Silent SNP A A G TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr5:78610397A>G ENST00000396137.4 + 9 2844 c.2382A>G c.(2380-2382)gaA>gaG p.E794E JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 794 Pro-rich. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ACAACCTCGAACCATGTTCTG 0.517000 38 88 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51693066 51693066 + Nonsense_Mutation SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr12:51693066C>A ENST00000267012.4 - 7 584 c.523G>T c.(523-525)Gaa>Taa p.E175* BIN2_ENST00000544402.1_Nonsense_Mutation_p.E149*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.E148*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.E143* NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 175 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TTGAACTCTTCCTCTGCCTAG 0.418000 23 28 9.86323e-18 1.14579e-17 1 1 0 NPAS1 4861 broad.mit.edu 37 19 47548510 47548510 + Silent SNP C C A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr19:47548510C>A ENST00000602212.1 + 12 1594 c.1374C>A c.(1372-1374)acC>acA p.T458T NPAS1_ENST00000602189.1_Silent_p.T283T|NPAS1_ENST00000449844.2_Silent_p.T458T|NPAS1_ENST00000439365.2_3'UTR Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 458 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) CCCCCCAGACCCAGGGCAAAC 0.672000 16 45 3.32936e-07 3.56848e-07 1 1 0 AGRN 375790 broad.mit.edu 37 1 980739 980748 + Splice_Site DEL GTGCCTGCCA GTGCCTGCCA - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:980739_980748delGTGCCTGCCA ENST00000379370.2 + 14 2422_2431 c.2371_splice c.e14-1 p.SACQ791_splice NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 791 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGCCTTTCAGGTGCCTGCCAGTGCAACCCC 0.700 19 54 --- --- --- --- RLF 6018 broad.mit.edu 37 1 40661392 40661394 + In_Frame_Del DEL TTC TTC - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:40661392_40661394delTTC ENST00000372771.4 + 4 590_592 c.563_565delTTC c.(562-567)gtt>g p.VL188del NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 188 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAAAACCCAGTTCTTCTTAAAAT 0.369 15 31 --- --- --- --- RALGPS2 55103 broad.mit.edu 37 1 178745957 178745958 + Splice_Site INS - - T TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr1:178745957_178745958insT ENST00000367635.3 + 2 395 c.e2+1 RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 TGCTTCTGAGGTAAGATATTTA 0.396 10 23 --- --- --- --- SF3B6 51639 broad.mit.edu 37 2 24297025 24297026 + Frame_Shift_Ins INS - - TA TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:24297025_24297026insTA ENST00000233468.4 - 2 282_283 c.69_70insTA c.(67-72)atgaaafs p.MK23fs NM_016047.3 NP_057131.1 Q9Y3B4 PM14_HUMAN 23 RRM. nuclear mRNA splicing, via spliceosome nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCAAATTTCTTATATACAATA 0.292 10 23 --- --- --- --- CYP1B1 1545 broad.mit.edu 37 2 38298106 38298107 + Frame_Shift_Ins INS - - A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr2:38298106_38298107insA ENST00000260630.3 - 3 1791_1792 c.1390_1391insT c.(1390-1392)agtfs p.S464fs CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.S464fs|CYP1B1_ENST00000494864.1_5'UTR NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 464 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) TTTGCCCACTGAAAAAATCATC 0.505 21 58 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560458 147560466 + In_Frame_Del DEL GGCGGCGGC GGCGGCGGC - rs67907220 TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr4:147560458_147560466delGGCGGCGGC ENST00000281321.3 + 1 414_422 c.166_174delGGCGGCGGC c.(166-174)del p.GGG65del AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 65 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) CGCTggtggtggcggcggcggcggcggcg 0.761 7 15 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 7 95 --- --- --- --- ZNF804B 219578 broad.mit.edu 37 7 88847522 88847522 + Frame_Shift_Del DEL C C - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:88847522delC ENST00000333190.4 + 2 771 c.162delC c.(160-162)aafs p.N54fs NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 54 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TAAAGGCAAACTTTTACTGTG 0.363 HNSCC(36;0.09) 16 40 --- --- --- --- TRBV7-1 28597 broad.mit.edu 37 7 142032162 142032163 + RNA DEL GA GA - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr7:142032162_142032163delGA ENST00000547918.2 + 0 82 atgtgtgtgtgAGAGAGAGAGA 0.505 5 11 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971128 21971128 + Frame_Shift_Del DEL G G - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr9:21971128delG ENST00000579755.1 - 2 565 c.273delC c.(271-273)cafs p.H91fs CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H91fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H132fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.T26fs P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.L78fs*41(3)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T77S(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCGGGTGAGAGTGGCGGGGTC 0.716 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 9 18 --- --- --- --- AP003068.18 0 broad.mit.edu 37 11 64943050 64943050 + RNA DEL T T - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:64943050delT ENST00000534819.1 - 0 891 gcccggctaattttttttttg 0.522 2 4 --- --- --- --- ANKRD13D 338692 broad.mit.edu 37 11 67069025 67069031 + Frame_Shift_Del DEL GCATGGA GCATGGA - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr11:67069025_67069031delGCATGGA ENST00000447274.2 + 13 2329_2335 c.1154_1160delGCATGGA c.(1153-1161)ggfs p.GME385fs ANKRD13D_ENST00000308440.6_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000515828.1_Frame_Shift_Del_p.GME122fs|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000514166.1_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000511455.2_Frame_Shift_Del_p.GME472fs Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 385 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AGCGTGCTGGGCATGGAGCGCAACGAG 0.657 16 92 --- --- --- --- ZFYVE26 23503 broad.mit.edu 37 14 68265002 68265002 + Frame_Shift_Del DEL C C - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr14:68265002delC ENST00000347230.4 - 11 2115 c.1977delG c.(1975-1977)ggfs p.G659fs ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.G659fs NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 659 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCCTATGAGGCCCTGGGTAAC 0.488 30 61 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23312380 23312381 + RNA DEL TT TT - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:23312380_23312381delTT ENST00000560464.1 - 0 3118 TGTTAttttctttttttttttt 0.401 2 4 --- --- --- --- CASC5 57082 broad.mit.edu 37 15 40915630 40915631 + Frame_Shift_Ins INS - - C TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:40915630_40915631insC ENST00000346991.5 + 11 3636_3637 c.3246_3247insC c.(3244-3249)gactctfs p.S1083fs CASC5_ENST00000399668.2_Frame_Shift_Ins_p.S1057fs Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1083 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TTCTGAATGAACCTCTATCAAG 0.351 12 60 --- --- --- --- EFTUD1P1 648809 broad.mit.edu 37 15 84773616 84773631 + RNA DEL TGCAATTGGTTTTTTT TGCAATTGGTTTTTTT - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr15:84773616_84773631delTGCAATTGGTTTTTTT ENST00000558187.1 + 0 546 AGATTTTATATGCAATTGGTTttttttagtgaaact 0.384 9 26 --- --- --- --- NLGN2 57555 broad.mit.edu 37 17 7320905 7320905 + Frame_Shift_Del DEL C C - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:7320905delC ENST00000302926.2 + 7 2368 c.2295delC c.(2293-2295)tgfs p.C765fs NLGN2_ENST00000575301.1_Frame_Shift_Del_p.C765fs NM_020795.2 NP_065846.1 Q8NFZ4 NLGN2_HUMAN neuroligin 2 765 cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly cell surface|integral to plasma membrane|postsynaptic membrane neurexin binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3) 22 Prostate(122;0.157) GCCCTGCCTGCCCGCCCGACT 0.751 2 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577503 7577503 + Frame_Shift_Del DEL A A - TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aead4f-8d43-426b-ad2c-7dcb249f579e db856f4b-d854-4bab-b92e-755dfdb8acea g.chr17:7577503delA ENST00000420246.2 - 7 910 c.778delT c.(778-780)ccfs p.S261fs TP53_ENST00000445888.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S261fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S260fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S261fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 261 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (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.0?(8)|p.S260fs*85(2)|p.S260A(2)|p.S260fs*3(2)|p.?(1)|p.E258fs*85(1)|p.S260P(1)|p.E258fs*71(1)|p.S260_S261delSS(1)|p.S260fs*4(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.S260del(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) CCTGACCTGGAGTCTTCCAGT 0.577 111 """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) 21 46 --- --- --- ---