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 SYNJ2BP 55333 broad.mit.edu 37 14 70842394 70842394 + Splice_Site SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:70842394C>T ENST00000256366.4 - 3 377 c.297_splice c.e3+1 p.R99_splice RP11-718G2.3_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_5'UTR NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) GATACCTACCCTGTGCTGCAC 0.463000 22 112 0 0 0.667858 0 0 SRSF4 6429 broad.mit.edu 37 1 29508253 29508253 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:29508253C>T ENST00000373795.4 - 1 246 c.12G>A c.(10-12)gtG>gtA p.V4V SRSF4_ENST00000546138.1_Silent_p.V4V|SRSF4_ENST00000466448.1_5'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 4 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 GGCCGATGTACACCCGCGGCA 0.701000 5 36 0 0 0.184627 0 0 TTN 7273 broad.mit.edu 37 2 179587178 179587178 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:179587178C>A ENST00000589042.1 - 77 22560 c.22336G>T c.(22336-22338)Gca>Tca p.A7446S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A7129S|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A6202S|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7129 Ig-like 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGATGGGTGCAGAGCCATTT 0.393000 14 69 1.5842e-08 1.71745e-08 0.435327 1 0 NEUROD1 4760 broad.mit.edu 37 2 182542610 182542610 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:182542610G>A ENST00000295108.3 - 2 1435 c.978C>T c.(976-978)tgC>tgT p.C326C NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 326 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TGGGGATCTCGCAGCGAGGGG 0.502000 10 102 0 0 0.335167 0 0 TTN 7273 broad.mit.edu 37 2 179433038 179433038 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:179433038C>T ENST00000589042.1 - 326 78045 c.77821G>A c.(77821-77823)Gtt>Att p.V25941I TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V24300I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16876I|TTN_ENST00000342175.6_Missense_Mutation_p.V17068I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23373I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V17001I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24300 Fibronectin type-III 89. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGCAGAAACAACATCCCAT 0.383000 18 58 0 0 0.520397 0 0 KLF9 687 broad.mit.edu 37 9 73002724 73002724 + Nonsense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:73002724G>A ENST00000377126.2 - 2 1963 c.703C>T c.(703-705)Cga>Tga p.R235* NM_001206.2 NP_001197.1 Q13886 KLF9_HUMAN Kruppel-like factor 9 235 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 9 TTTTTCGATCGCTTGATCATG 0.597000 14 69 0 0 0.479597 0 0 OPRK1 4986 broad.mit.edu 37 8 54141973 54141973 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:54141973C>T ENST00000265572.3 - 4 1324 c.1027G>A c.(1027-1029)Gac>Aac p.D343N RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.D254N|OPRK1_ENST00000520287.1_Missense_Mutation_p.D343N NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 343 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.D343N(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AAGCAGAAGTCCCGGAAACAC 0.493000 6 59 0 0 0.217242 0 0 ABLIM3 22885 broad.mit.edu 37 5 148590346 148590346 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:148590346G>A ENST00000506113.1 + 6 1115 c.633G>A c.(631-633)gaG>gaA p.E211E ABLIM3_ENST00000326685.7_Silent_p.E211E|ABLIM3_ENST00000508983.1_Silent_p.E211E|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.E211E|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Silent_p.E211E|ABLIM3_ENST00000504238.1_Silent_p.E211E O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 211 LIM zinc-binding 4. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAAATGTGAGACTTGTGACC 0.478000 41 115 0 0 0.870114 0 0 GRIK3 2899 broad.mit.edu 37 1 37346378 37346378 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:37346378C>T ENST00000373091.3 - 3 423 c.407G>A c.(406-408)cGt>cAt p.R136H GRIK3_ENST00000373093.4_Missense_Mutation_p.R136H NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 136 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GTGCTTCCAACGCAGCTGGAT 0.622000 4 84 0 0 0.184627 0 0 PTPDC1 138639 broad.mit.edu 37 9 96863938 96863938 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:96863938G>A ENST00000375360.3 + 8 2282 c.1942G>A c.(1942-1944)Gag>Aag p.E648K PTPDC1_ENST00000467049.1_3'UTR|PTPDC1_ENST00000288976.3_Missense_Mutation_p.E700K NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 648 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 GTCTTGGGTGGAGCAACTGAA 0.463000 14 88 0 0 0.539581 0 0 KIAA1919 91749 broad.mit.edu 37 6 111588141 111588141 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:111588141C>T ENST00000368847.4 + 4 1729 c.1376C>T c.(1375-1377)aCg>aTg p.T459M NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 459 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) ATGATTGAAACGAATGATACA 0.398000 5 50 0 0 0.184627 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971186 21971186 + Nonsense_Mutation SNP G G A rs121913387 TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:21971186G>A ENST00000304494.5 - 2 442 c.172C>T c.(172-174)Cga>Tga p.R58* CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 58 R -> Q (in dbSNP:rs36204273). 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.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(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) TCCGCCACTCGGGCGCTGCCC 0.677000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 14 0 0 0.150653 0 0 DEGS1 8560 broad.mit.edu 37 1 224377307 224377307 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:224377307G>A ENST00000323699.4 + 2 277 c.111G>A c.(109-111)atG>atA p.M37I DEGS1_ENST00000465848.1_3'UTR|DEGS1_ENST00000391877.3_Missense_Mutation_p.M37I NM_003676.3 NP_003667.1 O15121 DEGS1_HUMAN delta(4)-desaturase, sphingolipid 1 37 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) AGTCCTTGATGAAACCTGATC 0.313000 12 63 0 0 0.387290 0 0 CCNA1 8900 broad.mit.edu 37 13 37011811 37011811 + Missense_Mutation SNP C C G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr13:37011811C>G ENST00000418263.1 + 3 690 c.340C>G c.(340-342)Cct>Gct p.P114A CCNA1_ENST00000449823.1_Missense_Mutation_p.P71A|CCNA1_ENST00000440264.1_Missense_Mutation_p.P71A|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000255465.4_Missense_Mutation_p.P115A NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 115 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AAATGCCTTCCCTCCAGCTGG 0.478000 6 92 0 0 0.278610 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654375 38654375 + RNA SNP A A G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:38654375A>G ENST00000494540.1 + 0 542 NR_003086.1 CGGGAACTGGAGCCTCTCCTC 0.403000 5 32 0 0 0.248553 0 0 HIPK3 10114 broad.mit.edu 37 11 33308667 33308667 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:33308667G>A ENST00000303296.4 + 2 1012 c.707G>A c.(706-708)cGt>cAt p.R236H HIPK3_ENST00000456517.1_Missense_Mutation_p.R236H|HIPK3_ENST00000525975.1_Missense_Mutation_p.R236H|HIPK3_ENST00000379016.3_Missense_Mutation_p.R236H NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 236 Protein kinase. anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TCTTATGCCCGTCAAGGTCAA 0.398000 3 32 0 0 0.150653 0 0 TOP2B 7155 broad.mit.edu 37 3 25639860 25639860 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr3:25639860C>T ENST00000435706.2 - 36 5005 c.4804G>A c.(4804-4806)Gta>Ata p.V1602I TOP2B_ENST00000542520.1_Missense_Mutation_p.V459I|TOP2B_ENST00000540199.1_Missense_Mutation_p.V459I|TOP2B_ENST00000264331.4_Missense_Mutation_p.V1607I Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1607 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 AAATATTTTACTTCTTTCCTA 0.403000 11 43 0 0 0.361761 0 0 TMEM190 147744 broad.mit.edu 37 19 55889198 55889198 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:55889198G>A ENST00000291934.3 + 4 267 c.249G>A c.(247-249)gcG>gcA p.A83A CTD-2105E13.15_ENST00000595064.1_RNA NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 83 integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ACATGTGGGCGCTGGTCTGGA 0.692000 5 64 0 0 0.217242 0 0 PTOV1 53635 broad.mit.edu 37 19 50357788 50357788 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:50357788C>T ENST00000391842.1 + 2 467 c.297C>T c.(295-297)ctC>ctT p.L99L PTOV1_ENST00000221557.9_Silent_p.L67L|PTOV1_ENST00000601638.1_Silent_p.L67L|PTOV1_ENST00000600603.1_Silent_p.L67L|AC018766.6_ENST00000601211.1_RNA|PTOV1_ENST00000601675.1_Silent_p.L99L|PTOV1_ENST00000599732.1_Silent_p.L99L|PTOV1_ENST00000598325.1_3'UTR NM_017432.3 NP_059128.2 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1) 16 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) GCGGCGTCCTCGAGTGGCAGG 0.672000 5 64 0 0 0.184627 0 0 KLKB1 3818 broad.mit.edu 37 4 187172684 187172684 + Silent SNP A A G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr4:187172684A>G ENST00000264690.6 + 9 1099 c.912A>G c.(910-912)ggA>ggG p.G304G KLKB1_ENST00000513864.1_Silent_p.G304G NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 304 Apple 4. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) ACTTTGGAGGAGAAGAATTGA 0.373000 3 73 0 0 0.115264 0 0 PRL 5617 broad.mit.edu 37 6 22294767 22294767 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:22294767G>A ENST00000306482.1 - 2 593 c.75C>T c.(73-75)agC>agT p.S25S RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 25 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) AGGGGGCCACGCTCTGGCACA 0.592000 4 26 0 0 0.184627 0 0 ASTN2 23245 broad.mit.edu 37 9 119903652 119903652 + Missense_Mutation SNP A A G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr9:119903652A>G ENST00000313400.4 - 4 1221 c.1121T>C c.(1120-1122)cTg>cCg p.L374P ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.L374P|ASTN2_ENST00000361209.2_Intron O75129 ASTN2_HUMAN astrotactin 2 374 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TGTGCTGCGCAGGGGTGGTTG 0.592000 3 49 0 0 0.115264 0 0 LRRN3 54674 broad.mit.edu 37 7 110764283 110764283 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:110764283C>T ENST00000451085.1 + 4 2501 c.1455C>T c.(1453-1455)ggC>ggT p.G485G IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Silent_p.G485G|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Silent_p.G485G|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 485 Ig-like C2-type. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ATATAAATGGCGTAACTCCCA 0.408000 8 71 0 0 0.307466 0 0 GAB2 9846 broad.mit.edu 37 11 77991788 77991788 + Missense_Mutation SNP C C G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:77991788C>G ENST00000361507.4 - 2 320 c.235G>C c.(235-237)Gag>Cag p.E79Q GAB2_ENST00000340149.2_Missense_Mutation_p.E41Q|GAB2_ENST00000526030.1_5'UTR NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 79 PH. osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TCCTGCAGCTCCTTCTTGTTA 0.473000 19 136 0 0 0.592651 0 0 CD97 976 broad.mit.edu 37 19 14517888 14517888 + Silent SNP G G A rs141170739 byFrequency TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:14517888G>A ENST00000242786.5 + 18 2303 c.2223G>A c.(2221-2223)acG>acA p.T741T CD97_ENST00000357355.3_Silent_p.T692T|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.T648T NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 741 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TGACCATCACGGCCATCGCGC 0.637000 11 68 0 0 0.361761 0 0 TOP1MT 116447 broad.mit.edu 37 8 144392336 144392336 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:144392336C>T ENST00000523676.1 - 14 1716 c.1311G>A c.(1309-1311)gcG>gcA p.A437A TOP1MT_ENST00000521193.1_Silent_p.A437A|TOP1MT_ENST00000329245.4_Silent_p.A535A|TOP1MT_ENST00000519148.1_Silent_p.A437A Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 535 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CACTCAGCTGCGCCAGCTGCT 0.642000 4 23 0 0 0.150653 0 0 RGS9 8787 broad.mit.edu 37 17 63206625 63206625 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:63206625C>T ENST00000449996.3 + 17 1372 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W RGS9_ENST00000262406.9_Missense_Mutation_p.R437W|RGS9_ENST00000443584.3_Missense_Mutation_p.R434W NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 437 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CCCTTTTATGCGGCGTCACCT 0.572000 4 128 0 0 0.150653 0 0 ATRX 546 broad.mit.edu 37 X 76937546 76937546 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chrX:76937546T>C ENST00000373344.5 - 9 3416 c.3202A>G c.(3202-3204)Aca>Gca p.T1068A ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T1030A NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1068 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CCTTTCCCTGTTGACTTCTCA 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 32 151 0 0 0.750413 0 0 IRX5 10265 broad.mit.edu 37 16 54966559 54966559 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:54966559C>T ENST00000394636.4 + 2 736 c.399C>T c.(397-399)aaC>aaT p.N133N IRX5_ENST00000558597.1_Silent_p.N67N|IRX5_ENST00000320990.5_Silent_p.N133N|IRX5_ENST00000560154.1_Intron P78411 IRX5_HUMAN iroquois homeobox 5 133 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 CCTGGCTCAACGAGCACCGCA 0.627000 18 88 0 0 0.539581 0 0 GPR98 84059 broad.mit.edu 37 5 90079036 90079036 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:90079036G>A ENST00000405460.2 + 66 13423 c.13327G>A c.(13327-13329)Gcc>Acc p.A4443T GPR98_ENST00000425867.2_Missense_Mutation_p.A104T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4443 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAGCTCCTCTGCCAGTCCCGG 0.443000 27 113 0 0 0.681144 0 0 DNAH2 146754 broad.mit.edu 37 17 7734412 7734412 + Missense_Mutation SNP C C G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:7734412C>G ENST00000572933.1 + 80 13699 c.12239C>G c.(12238-12240)gCa>gGa p.A4080G DNAH2_ENST00000389173.2_Missense_Mutation_p.A4080G Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4080 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGTTGTCAGCACTGGAGACT 0.517000 4 301 0 0 0.150653 0 0 MRPL21 219927 broad.mit.edu 37 11 68658835 68658835 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:68658835C>T ENST00000362034.2 - 7 591 c.582G>A c.(580-582)cgG>cgA p.R194R MRPL21_ENST00000450904.2_Silent_p.R109R NM_181514.1|NM_181515.1 NP_852615.1|NP_852616.1 Q7Z2W9 RM21_HUMAN mitochondrial ribosomal protein L21 194 translation mitochondrion|ribosome RNA binding|structural constituent of ribosome large_intestine(1)|lung(6)|prostate(1) 8 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TGCTGTTTATCCGGAGGACAG 0.473000 12 235 0 0 0.435327 0 0 INTS12 57117 broad.mit.edu 37 4 106621141 106621141 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr4:106621141C>T ENST00000451321.2 - 2 501 c.22G>A c.(22-24)Gaa>Aaa p.E8K INTS12_ENST00000394735.1_Missense_Mutation_p.E8K|INTS12_ENST00000340139.5_Missense_Mutation_p.E8K NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 8 snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) GGATCAAGTTCCAAGTTCACA 0.358000 37 85 0 0 0.819951 0 0 DBX1 120237 broad.mit.edu 37 11 20177857 20177857 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:20177857G>A ENST00000524983.2 - 4 1223 c.935C>T c.(934-936)tCg>tTg p.S312L DBX1_ENST00000227256.3_Missense_Mutation_p.S351L A6NMT0 DBX1_HUMAN developing brain homeobox 1 312 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GTGCGCGGGCGAGGGGGGCAG 0.701000 10 68 0 0 0.361761 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:90161578G>A ENST00000564451.1 + 0 931 TUBB8P7_ENST00000567960.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 4 40 0 0 0.150653 0 0 PSD2 84249 broad.mit.edu 37 5 139201499 139201499 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:139201499G>A ENST00000274710.3 + 6 1324 c.1119G>A c.(1117-1119)ccG>ccA p.P373P NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 373 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCTTCCCGCTGATGGGGG 0.587000 7 64 0 0 0.248553 0 0 VIT 5212 broad.mit.edu 37 2 36986255 36986255 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:36986255G>A ENST00000457137.2 + 6 781 c.553G>A c.(553-555)Gat>Aat p.D185N VIT_ENST00000389975.3_Intron|VIT_ENST00000401530.1_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000404084.1_Intron NM_001177972.1 NP_001171443.1 Q6UXI7 VITRN_HUMAN vitrin 0 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TGTTTTGGGAGATAGCGGAGA 0.458000 3 45 0 0 0.115264 0 0 MRPL45 84311 broad.mit.edu 37 17 36453192 36453192 + Missense_Mutation SNP T T G rs139299251 by1000genomes TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:36453192T>G ENST00000312513.5 + 1 204 c.43T>G c.(43-45)Ttt>Gtt p.F15V NM_032351.4 NP_115727.4 Q9BRJ2 RM45_HUMAN mitochondrial ribosomal protein L45 15 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTTATCGAGGTTTTTGGGCTG 0.582000 5 60 0 0 0.307466 0 0 TENC1 23371 broad.mit.edu 37 12 53447568 53447568 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr12:53447568C>A ENST00000314250.6 + 5 562 c.272C>A c.(271-273)aCg>aAg p.T91K RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000549700.1_Missense_Mutation_p.T91K|TENC1_ENST00000546602.1_Missense_Mutation_p.T91K|TENC1_ENST00000379902.3_5'UTR|TENC1_ENST00000552570.1_Missense_Mutation_p.T91K|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000314276.3_Missense_Mutation_p.T101K|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000451358.1_Missense_Mutation_p.T91K NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 91 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CGGCGAAACACGGCCCCAGTC 0.567000 OREG0021855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 35 0.000978159 0.00104098 0.387290 1 0 KMT2C 58508 broad.mit.edu 37 7 151949691 151949691 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:151949691C>T ENST00000355193.2 - 10 1627 c.1409G>A c.(1408-1410)tGt>tAt p.C470Y KMT2C_ENST00000262189.6_Missense_Mutation_p.C470Y lysine (K)-specific methyltransferase 2C ACACTTCCCACAGAAGGGACA 0.388000 5 26 0 0 0.184627 0 0 KCNH4 23415 broad.mit.edu 37 17 40322231 40322231 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:40322231C>T ENST00000264661.3 - 8 1616 c.1284G>A c.(1282-1284)gcG>gcA p.A428A KCNH4_ENST00000607371.1_Silent_p.A428A NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 428 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTACAGTGCCGCGATGTAGG 0.602000 15 27 0 0 0.457914 0 0 KAAG1 353219 broad.mit.edu 37 6 24357907 24357907 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:24357907G>A ENST00000274766.1 + 1 777 c.40G>A c.(40-42)Gtt>Att p.V14I DCDC2_ENST00000378454.3_Silent_p.N24N NM_181337.3 NP_851854.1 Q9UBP8 KAAG1_HUMAN kidney associated antigen 1 14 immune response central_nervous_system(1)|lung(1)|prostate(1) 3 AGGGGTCCCCGTTGCGGTACA 0.662000 9 59 0 0 0.335167 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669125 234669125 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:234669125C>T ENST00000360418.3 + 1 192 c.192C>T c.(190-192)gcC>gcT p.A64A UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000305208.5_Silent_p.A64A|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron P22309 UD11_HUMAN 64 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CACCTGACGCCTCGTTGTACA 0.522000 11 88 0 0 0.387290 0 0 ZFPM1 161882 broad.mit.edu 37 16 88601287 88601287 + Missense_Mutation SNP G G C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:88601287G>C ENST00000319555.3 + 10 3243 c.2921G>C c.(2920-2922)cGg>cCg p.R974P NM_153813.2 NP_722520.2 Q8IX07 FOG1_HUMAN zinc finger protein, FOG family member 1 974 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) GGCAACCACCGGTACTGCCGT 0.662000 7 40 0 0 0.307466 0 0 DMBT1 1755 broad.mit.edu 37 10 124339094 124339094 + Splice_Site SNP G G T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:124339094G>T ENST00000368909.3 + 10 786 c.679_splice c.e10-1 p.G227_splice DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Splice_Site_p.G227_splice|DMBT1_ENST00000368955.3_Splice_Site_p.G227_splice|DMBT1_ENST00000368956.2_Splice_Site_p.G227_splice|DMBT1_ENST00000330163.4_Splice_Site_p.G227_splice|DMBT1_ENST00000338354.3_Splice_Site_p.G227_splice NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 227 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCCCCTGTAGGATCTGAATCC 0.527000 39 391 6.19805e-25 6.91321e-25 0.812448 1 0 PYROXD2 84795 broad.mit.edu 37 10 100148126 100148126 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:100148126C>T ENST00000370575.4 - 13 1480 c.1432G>A c.(1432-1434)Gct>Act p.A478T PYROXD2_ENST00000483923.1_Intron NM_032709.2 NP_116098.2 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 2 478 oxidoreductase activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 12 TCTGCATAAGCGTCTCTCTCC 0.612000 8 26 0 0 0.307466 0 0 TCTEX1D4 343521 broad.mit.edu 37 1 45271807 45271807 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:45271807C>T ENST00000372200.1 - 2 1042 c.534G>A c.(532-534)ccG>ccA p.P178P TCTEX1D4_ENST00000339355.2_Silent_p.P178P NM_001013632.2 NP_001013654.1 Q5JR98 TC1D4_HUMAN Tctex1 domain containing 4 178 pancreas(1) 1 Acute lymphoblastic leukemia(166;0.155) GGCCCGCGCGCGGCCCCAGCA 0.716000 6 6 0 0 0.217242 0 0 TMEM176A 55365 broad.mit.edu 37 7 150500820 150500820 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:150500820G>A ENST00000484928.1 + 5 1036 c.455G>A c.(454-456)cGc>cAc p.R152H TMEM176A_ENST00000461345.1_Missense_Mutation_p.R93H|TMEM176A_ENST00000004103.3_Missense_Mutation_p.R152H Q96HP8 T176A_HUMAN transmembrane protein 176A 152 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGCCTGCCGCATCTCCAGC 0.512000 29 74 0 0 0.729181 0 0 SAR1A 56681 broad.mit.edu 37 10 71921643 71921643 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:71921643T>C ENST00000373238.1 - 2 386 c.29A>G c.(28-30)aAt>aGt p.N10S SAR1A_ENST00000373242.1_Missense_Mutation_p.N10S|SAR1A_ENST00000477464.1_5'UTR|SAR1A_ENST00000458634.2_Intron|SAR1A_ENST00000373241.4_Missense_Mutation_p.N10S|SAR1A_ENST00000431664.2_Missense_Mutation_p.N10S|SAR1A_ENST00000373236.1_Missense_Mutation_p.N10S Q9NR31 SAR1A_HUMAN SAR1 homolog A (S. cerevisiae) 10 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3) 6 GCTGAAGCCATTGTAGATCCA 0.358000 4 31 0 0 0.184627 0 0 SPAG16 79582 broad.mit.edu 37 2 214878680 214878680 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:214878680G>A ENST00000331683.5 + 13 1501 c.1406G>A c.(1405-1407)aGa>aAa p.R469K SPAG16_ENST00000374309.3_Missense_Mutation_p.R375K NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 469 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TATAGTGAAAGATGCAGATGT 0.338000 10 73 0 0 0.435327 0 0 PCYT2 5833 broad.mit.edu 37 17 79866789 79866789 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:79866789G>A ENST00000538936.2 - 3 411 c.303C>T c.(301-303)acC>acT p.T101T PCYT2_ENST00000538721.2_Silent_p.T101T|PCYT2_ENST00000571105.1_Silent_p.T101T|PCYT2_ENST00000331285.3_Silent_p.T23T|PCYT2_ENST00000570388.1_Silent_p.T23T|PCYT2_ENST00000570391.1_Silent_p.T69T NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 101 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ATTTGTCCAGGGTCTCTAGTG 0.587000 10 84 0 0 0.361761 0 0 HMCN1 83872 broad.mit.edu 37 1 186106021 186106021 + Nonsense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:186106021C>T ENST00000271588.4 + 87 13763 c.13534C>T c.(13534-13536)Cga>Tga p.R4512* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R4512* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4512 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding p.R4512R(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATGTGTTGCTCGAAACTTAAT 0.428000 29 71 0 0 0.717897 0 0 CHGA 1113 broad.mit.edu 37 14 93397703 93397703 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:93397703C>A ENST00000216492.5 + 6 744 c.464C>A c.(463-465)cCg>cAg p.P155Q CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 155 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) CAGGCCCTCCCGGAGCCCATG 0.607000 3 36 0.004672 0.00492684 0.115264 1 0 GDF5 8200 broad.mit.edu 37 20 34022565 34022565 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr20:34022565C>T ENST00000374372.1 - 4 1151 c.648G>A c.(646-648)gtG>gtA p.V216V GDF5OS_ENST00000374375.1_Silent_p.T203T|GDF5_ENST00000374369.3_Silent_p.V216V P43026 GDF5_HUMAN growth differentiation factor 5 216 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GCTTCCTGACCACGGGACCTC 0.612000 38 151 0 0 0.827153 0 0 ENPP6 133121 broad.mit.edu 37 4 185012424 185012424 + Missense_Mutation SNP A A C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr4:185012424A>C ENST00000296741.2 - 8 1370 c.1229T>G c.(1228-1230)gTg>gGg p.V410G NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 410 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) CATGCACATCACCCTGGACCA 0.587000 6 76 0 0 0.387290 0 0 FCRL4 83417 broad.mit.edu 37 1 157551405 157551405 + Missense_Mutation SNP C C T rs143188744 byFrequency TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:157551405C>T ENST00000271532.1 - 7 1300 c.1165G>A c.(1165-1167)Gcc>Acc p.A389T FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 389 integral to membrane|plasma membrane receptor activity p.A389T(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GCTCCCGCGGCGACAAGGCCA 0.572000 5 21 0 0 0.184627 0 0 EXOC6 54536 broad.mit.edu 37 10 94818062 94818062 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr10:94818062G>A ENST00000371552.4 + 22 2379 c.2350G>A c.(2350-2352)Gtc>Atc p.V784I EXOC6_ENST00000371547.4_Missense_Mutation_p.V805I|EXOC6_ENST00000443748.2_Missense_Mutation_p.V686I|EXOC6_ENST00000260762.6_Missense_Mutation_p.V789I NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 789 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) GATAGAGACAGTCGTGAAACA 0.398000 8 43 0 0 0.307466 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 15 63 0 0 0.500413 0 0 OGT 8473 broad.mit.edu 37 X 70776891 70776891 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chrX:70776891C>T ENST00000373719.3 + 10 1473 c.1256C>T c.(1255-1257)aCg>aTg p.T419M OGT_ENST00000373701.3_Missense_Mutation_p.T409M NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 419 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) CAGTGTTATACGCGTGCCATC 0.403000 3 17 0 0 0.115264 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377219 104377219 + Silent SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:104377219T>C ENST00000535008.1 + 4 667 c.543T>C c.(541-543)ctT>ctC p.L181L LHFPL3_ENST00000401970.2_Silent_p.L167L|LHFPL3_ENST00000424859.1_Silent_p.L167L|LHFPL3_ENST00000543266.1_Silent_p.L181L Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 167 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 AGTACACTCTTGGGGCTTGCT 0.473000 7 25 0 0 0.278610 0 0 KRTAP5-2 440021 broad.mit.edu 37 11 1619077 1619077 + Missense_Mutation SNP G G C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:1619077G>C ENST00000412090.1 - 1 447 c.404C>G c.(403-405)tCc>tGc p.S135C KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 135 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCAGCAGCTGGACTGGCAGCA 0.622000 16 188 0 0 0.479597 0 0 OR4D1 26689 broad.mit.edu 37 17 56232955 56232955 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:56232955C>T ENST00000268912.5 + 1 462 c.441C>T c.(439-441)gcC>gcT p.A147A NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGGTAGTAGCCGCCTGGGTGG 0.532000 21 59 0 0 0.575678 0 0 OBSCN 84033 broad.mit.edu 37 1 228468013 228468013 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:228468013C>T ENST00000570156.2 + 34 9158 c.9084C>T c.(9082-9084)aaC>aaT p.N3028N OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.N2599N|OBSCN_ENST00000422127.1_Silent_p.N2599N|OBSCN_ENST00000359599.6_Silent_p.N1446N|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2029 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCCTGTACAACGACAGCTTCC 0.627000 3 16 0 0 0.115264 0 0 SLC52A2 79581 broad.mit.edu 37 8 145584283 145584283 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:145584283G>A ENST00000532887.1 + 4 1618 c.1035G>A c.(1033-1035)ctG>ctA p.L345L SLC52A2_ENST00000530047.1_Silent_p.L345L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000329994.2_Silent_p.L345L|SLC52A2_ENST00000527078.1_Silent_p.L345L|SLC52A2_ENST00000540505.1_Silent_p.L257L|SLC52A2_ENST00000402965.1_Silent_p.L345L Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 345 integral to plasma membrane receptor activity|riboflavin transporter activity TCTCTCTGCTGGGCGTGTTCT 0.692000 24 112 0 0 0.654019 0 0 ST14 6768 broad.mit.edu 37 11 130078332 130078332 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:130078332C>T ENST00000278742.5 + 17 2440 c.2022C>T c.(2020-2022)gcC>gcT p.A674A NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 674 Peptidase S1. A -> V (in Ref. 3; BAB20376). proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) AGTGGACGGCCTTCCTGGGCT 0.662000 12 36 0 0 0.411799 0 0 ENKD1 84080 broad.mit.edu 37 16 67700077 67700077 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:67700077G>A ENST00000243878.4 - 2 498 c.177C>T c.(175-177)atC>atT p.I59I ENKD1_ENST00000602644.1_Silent_p.I59I NM_032140.1 NP_115516.1 enkurin domain containing 1 CACCGGGACCGATGCAGGGGC 0.697000 5 59 0 0 0.184627 0 0 ICAM5 7087 broad.mit.edu 37 19 10404565 10404565 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:10404565G>A ENST00000221980.4 + 7 1720 c.1657G>A c.(1657-1659)Gaa>Aaa p.E553K NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 553 Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TTACCGCTGCGAAGCCACCAA 0.652000 12 42 0 0 0.387290 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420192 56420192 + Missense_Mutation SNP G G T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr2:56420192G>T ENST00000407595.2 + 2 1359 c.857G>T c.(856-858)tGc>tTc p.C286F RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 286 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAACCCTTGTGCAAGGGCAGC 0.632000 16 84 4.14922e-12 4.5839e-12 0.500413 1 0 NDNL2 56160 broad.mit.edu 37 15 29561416 29561416 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr15:29561416G>A ENST00000332303.4 - 1 617 c.494C>T c.(493-495)gCc>gTc p.A165V FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 165 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CCTCATCTCGGCATCCTCCTC 0.547000 4 111 0 0 0.150653 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198808 170198808 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr3:170198808C>T ENST00000231706.4 - 7 1578 c.1263G>A c.(1261-1263)ttG>ttA p.L421L CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 421 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGACAGAGACCAAGGTGTAGG 0.532000 14 91 0 0 0.435327 0 0 SHARPIN 81858 broad.mit.edu 37 8 145154029 145154029 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:145154029G>A ENST00000398712.2 - 7 1438 c.1002C>T c.(1000-1002)ccC>ccT p.P334P NM_030974.3 NP_112236.3 Q9H0F6 SHRPN_HUMAN SHANK-associated RH domain interactor 334 negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway cytosol|LUBAC complex polyubiquitin binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGGGCCTGGGGGTAGCCCCA 0.662000 3 41 0 0 0.115264 0 0 RASA1 5921 broad.mit.edu 37 5 86674234 86674234 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:86674234G>A ENST00000456692.2 + 18 1950 c.1835G>A c.(1834-1836)cGa>cAa p.R612Q RASA1_ENST00000506290.1_Missense_Mutation_p.R623Q|RASA1_ENST00000512763.1_Missense_Mutation_p.R622Q|RASA1_ENST00000274376.6_Missense_Mutation_p.R789Q NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 789 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding p.R789Q(1) NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) ACCCTATTTCGAGCCACAACA 0.353000 13 32 0 0 0.411799 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561118 44561118 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr18:44561118G>A ENST00000332567.4 - 1 870 c.518C>T c.(517-519)aCg>aTg p.T173M KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 173 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AGCTGTGCGCGTTGGAGAGGC 0.687000 7 71 0 0 0.248553 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40293317 40293317 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr15:40293317C>A ENST00000263791.5 + 21 3094 c.3051C>A c.(3049-3051)caC>caA p.H1017Q EIF2AK4_ENST00000382727.2_Missense_Mutation_p.H989Q NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 1017 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TGCTGCACCACACGCTGACCA 0.587000 6 39 3.59834e-05 3.86488e-05 0.217242 1 0 ATP8A2 51761 broad.mit.edu 37 13 26343230 26343230 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr13:26343230C>T ENST00000381655.2 + 26 2573 c.2431C>T c.(2431-2433)Cgg>Tgg p.R811W ATP8A2_ENST00000255283.8_Missense_Mutation_p.R771W|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 771 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.R811R(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GGTGAAGAAGCGGGTGAAGGC 0.537000 22 62 0 0 0.624587 0 0 MALAT1 378938 broad.mit.edu 37 11 65266557 65266557 + RNA SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:65266557C>T ENST00000534336.1 + 0 1325 NR_002819.2 GCTGAGGGGGCAGGCGGAGCT 0.458000 4 105 0 0 0.184627 0 0 ZNF716 441234 broad.mit.edu 37 7 57522286 57522286 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:57522286T>C ENST00000420713.1 + 2 272 c.160T>C c.(160-162)Tcc>Ccc p.S54P NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 AAACCTGGTCTCCCTGGGTGA 0.368000 4 64 0 0 0.150653 0 0 ATXN1 6310 broad.mit.edu 37 6 16328463 16328463 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:16328463C>T ENST00000244769.4 - 8 1015 c.79G>A c.(79-81)Gag>Aag p.E27K ATXN1_ENST00000436367.1_Missense_Mutation_p.E27K NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 27 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GCCTTCTCCTCGGAGGACCGG 0.687000 6 70 0 0 0.248553 0 0 LRP4 4038 broad.mit.edu 37 11 46894742 46894742 + Missense_Mutation SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr11:46894742G>A ENST00000378623.1 - 30 4734 c.4492C>T c.(4492-4494)Cgg>Tgg p.R1498W LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1498 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) AAGTTTGCCCGTTCGATCTTG 0.552000 6 52 0 0 0.217242 0 0 EPDR1 54749 broad.mit.edu 37 7 37988474 37988474 + Missense_Mutation SNP G G C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:37988474G>C ENST00000199448.4 + 2 681 c.302G>C c.(301-303)gGa>gCa p.G101A EPDR1_ENST00000425345.1_Missense_Mutation_p.G40A|EPDR1_ENST00000559325.1_Missense_Mutation_p.G221A|EPDR1_ENST00000476620.1_5'UTR|EPDR1_ENST00000423717.1_Intron NM_017549.4 NP_060019.2 Q9UM22 EPDR1_HUMAN ependymin related 1 101 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 TATAAGGATGGAGTGATGTTT 0.423000 4 51 0 0 0.184627 0 0 CCDC47 57003 broad.mit.edu 37 17 61829244 61829244 + Missense_Mutation SNP C C A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr17:61829244C>A ENST00000582252.1 - 12 1604 c.1427G>T c.(1426-1428)tGt>tTt p.C476F RP11-51F16.8_ENST00000580553.1_Intron|CCDC47_ENST00000225726.5_Intron|CCDC47_ENST00000403162.3_Intron Q96A33 CCD47_HUMAN coiled-coil domain containing 47 0 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 ACCAACAGAACACAAGCAGTC 0.368000 30 78 4.22769e-11 4.62653e-11 0.706142 1 0 TAS2R60 338398 broad.mit.edu 37 7 143141158 143141158 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr7:143141158C>T ENST00000332690.1 + 1 613 c.613C>T c.(613-615)Ccc>Tcc p.P205S EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 205 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) TTGGACAATGCCCACTGCTGT 0.448000 4 152 0 0 0.150653 0 0 STAB2 55576 broad.mit.edu 37 12 104089380 104089380 + Missense_Mutation SNP G G C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr12:104089380G>C ENST00000388887.2 + 32 3632 c.3428G>C c.(3427-3429)cGg>cCg p.R1143P NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1143 FAS1 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CTGCTCATGCGGCTGGAACAG 0.502000 28 99 0 0 0.760397 0 0 USP9X 8239 broad.mit.edu 37 X 41077799 41077799 + Silent SNP G G A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chrX:41077799G>A ENST00000324545.7 + 37 7017 c.6384G>A c.(6382-6384)ttG>ttA p.L2128L USP9X_ENST00000378308.2_Silent_p.L2128L NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 2128 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATTTTTCCTTGCAAGATGGGC 0.413000 37 44 0 0 0.834066 0 0 AKNAD1 254268 broad.mit.edu 37 1 109369904 109369904 + Missense_Mutation SNP T T C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr1:109369904T>C ENST00000370001.3 - 11 2127 c.1859A>G c.(1858-1860)aAg>aGg p.K620R AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 620 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCCGTGGCCCTTTTTCTCCAC 0.413000 3 185 0 0 0.115264 0 0 EPB41L3 23136 broad.mit.edu 37 18 5396229 5396229 + Missense_Mutation SNP T T G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr18:5396229T>G ENST00000341928.2 - 19 3284 c.2944A>C c.(2944-2946)Acc>Ccc p.T982P EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T279P|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T287P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T813P|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T760P|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T760P|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T982P NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 982 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ATGGTTTTGGTTTCGGTGTGA 0.458000 5 187 0 0 0.184627 0 0 EXTL3 2137 broad.mit.edu 37 8 28573798 28573798 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:28573798C>T ENST00000220562.4 + 3 1124 c.222C>T c.(220-222)tgC>tgT p.C74C EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 74 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) ACGAGCTGTGCGAGGTGAAGC 0.602000 12 55 0 0 0.387290 0 0 GALNT16 57452 broad.mit.edu 37 14 69787431 69787431 + Missense_Mutation SNP A A T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:69787431A>T ENST00000337827.4 + 2 508 c.181A>T c.(181-183)Aca>Tca p.T61S GALNT16_ENST00000553669.1_Missense_Mutation_p.T61S|GALNT16_ENST00000448469.3_Missense_Mutation_p.T61S NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 ATCTCAGGTGACAGGAACTCC 0.607000 7 86 0 0 0.278610 0 0 TC2N 123036 broad.mit.edu 37 14 92258736 92258736 + Missense_Mutation SNP T T A TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr14:92258736T>A ENST00000435962.2 - 9 1345 c.1022A>T c.(1021-1023)gAt>gTt p.D341V TC2N_ENST00000360594.5_Missense_Mutation_p.D341V|TC2N_ENST00000340892.5_Missense_Mutation_p.D341V|TC2N_ENST00000556018.1_Intron NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 341 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TGGTGTTATATCCAAAGAGTA 0.363000 22 69 0 0 0.608945 0 0 DCAF15 90379 broad.mit.edu 37 19 14070879 14070879 + Silent SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:14070879C>T ENST00000254337.6 + 10 1545 c.1524C>T c.(1522-1524)ctC>ctT p.L508L NM_138353.2 NP_612362.2 Q66K64 DCA15_HUMAN DDB1 and CUL4 associated factor 15 508 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1) 11 AGGGCCAGCTCCGGTGAGCGC 0.667000 OREG0025301 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 25 0 0 0.150653 0 0 PKHD1 5314 broad.mit.edu 37 6 51875151 51875151 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:51875151C>T ENST00000371117.3 - 35 5982 c.5707G>A c.(5707-5709)Gtc>Atc p.V1903I PKHD1_ENST00000340994.4_Missense_Mutation_p.V1903I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1903 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.V1903I(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GTAATCTTGACGGTAATTGGC 0.393000 6 37 0 0 0.217242 0 0 UNC5D 137970 broad.mit.edu 37 8 35606140 35606140 + Missense_Mutation SNP C C T TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr8:35606140C>T ENST00000287272.2 + 11 1675 c.1655C>T c.(1654-1656)cCg>cTg p.P552L UNC5D_ENST00000416672.1_Missense_Mutation_p.P626L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P616L|UNC5D_ENST00000449677.1_Missense_Mutation_p.P197L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P554L|UNC5D_ENST00000404895.2_Missense_Mutation_p.P621L Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 621 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGACCATCCCGCACTGTGCA 0.493000 5 116 0 0 0.184627 0 0 ZNF549 256051 broad.mit.edu 37 19 58049987 58049987 + Missense_Mutation SNP A A G TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:58049987A>G ENST00000376233.3 + 4 1796 c.1615A>G c.(1615-1617)Agc>Ggc p.S539G ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.S526G|ZNF549_ENST00000594943.1_Intron NM_001199295.1 NP_001186224.1 Q6P9A3 ZN549_HUMAN zinc finger protein 549 539 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAAGTCTTCAGCCACCAAAA 0.443000 4 56 0 0 0.150653 0 0 TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. 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) GTGGTGGGGCTTGTTGTTGTTGT 0.537 7 481 --- --- --- --- CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr6:42897358_42897360delTGC ENST00000372836.4 + 1 421_423 c.50_52delTGC c.(49-54)ttg>t p.LL23del CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del NM_006586.3 NP_006577.2 Q9BT09 CNPY3_HUMAN canopy FGF signaling regulator 3 23 innate immune response endoplasmic reticulum p.L25delL(1) central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1) 6 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.695 3 5 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 2 4 --- --- --- --- NPIPA8 101059953 broad.mit.edu 37 16 18441114 18441116 + Splice_Site DEL CAC CAC - TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr16:18441114_18441116delCAC ENST00000339303.5 - 1 15 c.e1+1 nuclear pore complex interacting protein family, member A8 CGGCCATACTCACCACTGGGACT 0.709 6 12 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41073713 41073714 + Frame_Shift_Ins INS - - C TCGA-CQ-6224-01A-11D-1912-08 TCGA-CQ-6224-10A-01D-1912-08 Untested Somatic Phase_I WXS none Illumina GAIIx c03d51a0-8731-430d-a792-280e01629e8f 7c72a2dd-0b25-41a1-be66-a691196e57d0 g.chr19:41073713_41073714insC ENST00000352632.3 + 31 6567_6568 c.6481_6482insC c.(6481-6483)ccgfs p.P2161fs SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.P904fs|SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.P2161fs Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2161 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGAGCCCCTGGCCCGCCGAGCC 0.718 2 4 --- --- --- ---