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 S100A5 6276 broad.mit.edu 37 1 153509783 153509783 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:153509783C>T ENST00000359215.1 - 4 549 c.322G>A c.(322-324)Gac>Aac p.D108N S100A5_ENST00000368718.1_Missense_Mutation_p.D90N|S100A5_ENST00000368717.2_Missense_Mutation_p.D90N P33763 S10A5_HUMAN S100 calcium binding protein A5 90 nucleus calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 4 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CACTTGTTGTCCTCTAGAAAG 0.582000 31 33 0 0 1 0 0 PSMA7 5688 broad.mit.edu 37 20 60714933 60714933 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:60714933G>A ENST00000370873.4 - 3 378 c.252C>T c.(250-252)atC>atT p.I84I PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_Silent_p.I84I|PSMA7_ENST00000370861.1_Silent_p.I14I NM_002792.3 NP_002783.1 O14818 PSA7_HUMAN proteasome (prosome, macropain) subunit, alpha type, 7 84 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity large_intestine(1)|lung(2) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) GGGCCCTGTTGATGACTATCC 0.597000 15 21 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97141472 97141472 + Silent SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:97141472G>T ENST00000371247.2 - 18 1812 c.1623C>A c.(1621-1623)ggC>ggA p.G541G SORBS1_ENST00000277982.5_Silent_p.G563G|SORBS1_ENST00000353505.5_Silent_p.G426G|SORBS1_ENST00000371245.3_Silent_p.G426G|SORBS1_ENST00000371227.4_Silent_p.G495G|SORBS1_ENST00000354106.3_Silent_p.G511G|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000607232.1_Silent_p.G330G|SORBS1_ENST00000393949.1_Silent_p.G511G|SORBS1_ENST00000306402.6_Silent_p.G372G|SORBS1_ENST00000371241.1_Silent_p.G331G|SORBS1_ENST00000347291.4_Silent_p.G409G|SORBS1_ENST00000361941.3_Silent_p.G541G|SORBS1_ENST00000371246.2_Silent_p.G563G|SORBS1_ENST00000371239.1_Silent_p.G340G|SORBS1_ENST00000371249.2_Silent_p.G463G Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 541 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CGGAAGACTTGCCAGGCTGAT 0.403000 14 79 2.32078e-09 2.528e-09 1 1 0 ZNF502 91392 broad.mit.edu 37 3 44762896 44762896 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:44762896C>T ENST00000296091.4 + 4 843 c.587C>T c.(586-588)tCa>tTa p.S196L ZNF502_ENST00000436624.2_Missense_Mutation_p.S196L|ZNF502_ENST00000449836.1_Missense_Mutation_p.S196L NM_001134440.1|NM_001282880.1|NM_033210.4 NP_001127912.1|NP_001269809.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AGTCGTAGTTCATTCCTTGTT 0.428000 70 159 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235884187 235884187 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:235884187G>C ENST00000389794.3 - 40 9508 c.9334C>G c.(9334-9336)Cac>Gac p.H3112D LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H3112D Q99698 LYST_HUMAN lysosomal trafficking regulator 3112 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AGTATATTGTGGTATACATCA 0.338000 21 91 0 0 1 0 0 CCM2 83605 broad.mit.edu 37 7 45108111 45108111 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:45108111C>A ENST00000381112.3 + 5 1284 c.605C>A c.(604-606)tCc>tAc p.S202Y CCM2_ENST00000544363.1_Intron|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000258781.6_Missense_Mutation_p.S181Y|CCM2_ENST00000475551.1_Missense_Mutation_p.S175Y|CCM2_ENST00000541586.1_Missense_Mutation_p.S123Y NM_001029835.2 NP_001025006.1 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 181 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 AGTGCAGGCTCCCTGTCGGAG 0.592000 46 62 6.1207e-33 7.04457e-33 1 1 0 SHB 6461 broad.mit.edu 37 9 37955959 37955959 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:37955959G>C ENST00000377707.3 - 4 1712 c.1147C>G c.(1147-1149)Cct>Gct p.P383A RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 383 Mediates interaction with LAT, FAK1, JAK1 and JAK3. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) TGTTTGATAGGCTTAAAGCCC 0.597000 5 2 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:533875G>T ENST00000417302.1 - 3 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 41 42 5.20837e-25 5.95707e-25 1 1 0 MT1L 4500 broad.mit.edu 37 16 56652606 56652606 + RNA SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:56652606C>T ENST00000565768.1 + 0 287 NR_001447.2 metallothionein 1L (gene/pseudogene) GGGGACAGCCCTGCTCCCAGA 0.512000 16 77 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151042482 151042482 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:151042482G>T ENST00000568733.1 + 2 185 c.119G>T c.(118-120)aGg>aTg p.R40M NUB1_ENST00000355851.4_Missense_Mutation_p.R16M|NUB1_ENST00000413040.2_Missense_Mutation_p.R40M|NUB1_ENST00000566856.1_Missense_Mutation_p.R16M Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 16 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CAGTTTTTAAGGGAAGACAGG 0.303000 9 21 2.17888e-05 2.26554e-05 1 1 0 RANBP9 10048 broad.mit.edu 37 6 13639851 13639851 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:13639851T>C ENST00000011619.3 - 9 1527 c.1469A>G c.(1468-1470)cAt>cGt p.H490R RANBP9_ENST00000539980.1_Missense_Mutation_p.H261R NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 490 axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ATTCATTCCATGGCTGGGGCT 0.403000 33 45 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77750673 77750673 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:77750673C>T ENST00000407578.2 - 36 5697 c.5431G>A c.(5431-5433)Gat>Aat p.D1811N MYCBP2_ENST00000544440.2_Missense_Mutation_p.D1773N|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D1773N|MYCBP2_ENST00000360084.5_5'UTR NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1773 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCAGCTATATCACTGGGTGAG 0.363000 6 24 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3750104 3750104 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:3750104G>A ENST00000252505.3 + 12 1289 c.1127G>A c.(1126-1128)cGg>cAg p.R376Q NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 395 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CTGAGGCCCCGGGAGAAGCCC 0.597000 HNSCC(21;0.051) 12 27 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407406 38407406 + Nonsense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:38407406C>T ENST00000361085.5 + 7 1672 c.1327C>T c.(1327-1329)Cag>Tag p.Q443* ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.Q443* NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 TGAATGTATTCAGTGTGGAAA 0.388000 14 46 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180486555 180486555 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:180486555C>T ENST00000327705.9 + 11 1532 c.1301C>T c.(1300-1302)gCc>gTc p.A434V BTNL9_ENST00000376842.3_Missense_Mutation_p.A435V NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 434 B30.2/SPRY. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCGTCCTGGCCCCGCACCGC 0.741000 16 17 0 0 1 0 0 HSD17B11 51170 broad.mit.edu 37 4 88312220 88312220 + Translation_Start_Site SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:88312220C>T ENST00000358290.4 - 1 318 c.3G>A c.(1-3)atG>atA p.M1I HSD17B11_ENST00000507286.1_Start_Codon_SNP_p.M1I NM_016245.3 NP_057329.2 Q8NBQ5 DHB11_HUMAN hydroxysteroid (17-beta) dehydrogenase 11 1 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) GAAGAAATTTCATCCCTTTTG 0.428000 13 9 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5020962 5020962 + Nonsense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:5020962G>T ENST00000382545.3 + 2 1525 c.418G>T c.(418-420)Gag>Tag p.E140* KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 140 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATCAAGGAGGAGGAGCGCCC 0.627000 18 45 7.05477e-17 7.96927e-17 1 1 0 DRC1 92749 broad.mit.edu 37 2 26624885 26624885 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:26624885C>T ENST00000288710.2 + 1 102 c.28C>T c.(28-30)Ctg>Ttg p.L10L NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CCTAGAGGCCCTGGACCCGAA 0.657000 7 19 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223116445 223116445 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:223116445C>T ENST00000284476.6 + 2 444 c.280C>T c.(280-282)Cat>Tat p.H94Y DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.H94Y NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 94 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TTTGACTAGCCATAGCAGTCA 0.532000 29 94 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 51 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431567 140431567 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:140431567C>A ENST00000306549.3 + 1 589 c.512C>A c.(511-513)aCc>aAc p.T171N NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 171 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAACTACACCCTGAGTGCC 0.567000 12 75 7.93312e-07 8.39168e-07 1 1 0 MYH10 4628 broad.mit.edu 37 17 8417200 8417200 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:8417200C>T ENST00000360416.3 - 22 2655 c.2517G>A c.(2515-2517)aaG>aaA p.K839K MYH10_ENST00000396239.1_Silent_p.K829K|MYH10_ENST00000269243.4_Silent_p.K808K|MYH10_ENST00000379980.4_Silent_p.K824K NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 808 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GCTGCTGCTTCTTGGCAAAGG 0.458000 22 16 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26237281 26237281 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:26237281C>T ENST00000354667.4 - 3 282 c.114G>A c.(112-114)agG>agA p.R38R HNRNPA2B1_ENST00000356674.7_Silent_p.R26R NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 38 RRM 1. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CGTAGTAGTTCCTCAAACTTT 0.353000 T ETV1 prostate 15 54 0 0 1 0 0 TC2N 123036 broad.mit.edu 37 14 92278710 92278710 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr14:92278710A>G ENST00000435962.2 - 3 570 c.247T>C c.(247-249)Tct>Cct p.S83P TC2N_ENST00000340892.5_Missense_Mutation_p.S83P|TC2N_ENST00000360594.5_Missense_Mutation_p.S83P|TC2N_ENST00000556018.1_Missense_Mutation_p.S83P NM_001128596.1 NP_001122068 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 83 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) TGAATGTAAGATAACTTAAAC 0.363000 14 19 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558351 149558351 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:149558351T>C ENST00000223210.4 + 7 2347 c.2102T>C c.(2101-2103)aTg>aCg p.M701T RP4-751H13.7_ENST00000608963.1_RNA NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 701 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GGCTCAGCCATGTTGAGCTGC 0.632000 3 11 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533276 533276 + Splice_Site SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:533276C>T ENST00000417302.1 - 5 720 c.e5+1 HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Splice_Site|HRAS_ENST00000397596.2_Intron|HRAS_ENST00000451590.1_Intron NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GGGAGACTTACAGCGCGAGGG 0.726000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 6 1 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3886952 3886952 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:3886952G>A ENST00000319331.3 + 2 1388 c.627G>A c.(625-627)atG>atA p.M209I SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 209 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TTCTGGATATGAACTTCAAAC 0.413000 89 158 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34960988 34960988 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:34960988G>A ENST00000329357.5 + 1 76 c.40G>A c.(40-42)Ggc>Agc p.G14S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 14 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AAGGTCCCAAGGCATGGACTC 0.622000 5 20 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607337 53607337 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:53607337G>C ENST00000425354.2 - 8 1448 c.961C>G c.(961-963)Ctg>Gtg p.L321V RARG_ENST00000338561.5_Missense_Mutation_p.L310V|RARG_ENST00000394426.1_Missense_Mutation_p.L321V|RARG_ENST00000543726.1_Missense_Mutation_p.L299V|RARG_ENST00000327550.3_Missense_Mutation_p.L249V|RARG_ENST00000543762.1_5'UTR NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 321 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCCATCTCCAGGGGCAGGAGC 0.652000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 29 0 0 1 0 0 DPF1 8193 broad.mit.edu 37 19 38709576 38709576 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:38709576A>G ENST00000416611.1 - 4 547 c.424T>C c.(424-426)Tgt>Cgt p.C142R DPF1_ENST00000355526.4_Missense_Mutation_p.C168R|DPF1_ENST00000456296.1_Missense_Mutation_p.C142R|DPF1_ENST00000412732.1_Missense_Mutation_p.C86R|DPF1_ENST00000414789.1_Missense_Mutation_p.C86R|DPF1_ENST00000420980.2_Missense_Mutation_p.C168R Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 168 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CCCACCTGACAGTCCATAATG 0.657000 44 61 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48682555 48682555 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:48682555G>A ENST00000544264.1 - 26 8180 c.7900C>T c.(7900-7902)Cgc>Tgc p.R2634C CELSR3_ENST00000164024.4_Missense_Mutation_p.R2629C Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 2629 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCTGCATGCGGTAGAGGTGC 0.657000 14 22 0 0 1 0 0 VAMP4 8674 broad.mit.edu 37 1 171707494 171707494 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:171707494C>T ENST00000236192.7 - 2 447 c.61G>A c.(61-63)Gaa>Aaa p.E21K VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000415773.1_Missense_Mutation_p.E21K|VAMP4_ENST00000367740.2_Missense_Mutation_p.E21K NM_001185127.1|NM_003762.4 NP_001172056.1|NP_003753.2 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 21 vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTTACCCTTTCACTTTTCACA 0.363000 6 27 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 52 0 0 1 0 0 TSPAN16 26526 broad.mit.edu 37 19 11417292 11417292 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:11417292G>T ENST00000316737.1 + 5 613 c.463G>T c.(463-465)Ggg>Tgg p.G155W CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.G130W|TSPAN16_ENST00000590327.1_Missense_Mutation_p.G155W NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 155 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 AAAGTGCTGTGGGGTGAATAA 0.438000 25 40 9.04412e-07 9.51192e-07 1 1 0 PCDHA2 56146 broad.mit.edu 37 5 140176494 140176494 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:140176494G>A ENST00000526136.1 + 1 1945 c.1945G>A c.(1945-1947)Gtg>Atg p.V649M PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V649M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V649M NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCTACTCGTGCTGGTGAA 0.652000 15 68 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897506 130897506 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:130897506G>A ENST00000392984.3 - 6 2014 c.1271C>T c.(1270-1272)aCg>aTg p.T424M CCDC74B_ENST00000409943.3_Missense_Mutation_p.T256M|CCDC74B_ENST00000310463.6_Missense_Mutation_p.T322M Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 322 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) GGGGAAATGCGTGGCTTCTTG 0.627000 20 42 0 0 1 0 0 REEP5 7905 broad.mit.edu 37 5 112257852 112257852 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:112257852G>A ENST00000379638.4 - 1 384 c.36C>T c.(34-36)ttC>ttT p.F12F REEP5_ENST00000504247.1_Silent_p.F12F|REEP5_ENST00000513339.1_Silent_p.F12F|REEP5_ENST00000545426.1_Silent_p.F12F NM_005669.4 NP_005660.4 Q00765 REEP5_HUMAN receptor accessory protein 5 12 integral to membrane protein binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013) TCTCGTGCAGGAACCGGTCGA 0.647000 5 21 0 0 1 0 0 LTA4H 4048 broad.mit.edu 37 12 96394858 96394858 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:96394858T>C ENST00000228740.2 - 19 1886 c.1745A>G c.(1744-1746)cAt>cGt p.H582R LTA4H_ENST00000413268.2_3'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.H558R|RP11-256L6.3_ENST00000551849.1_RNA NM_000895.2 NP_000886.1 P09960 LKHA4_HUMAN leukotriene A4 hydrolase 582 hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis cytosol|nucleus aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1) 12 AGCTTGATCATGGGATTTGTC 0.468000 9 50 0 0 1 0 0 B3GNT4 79369 broad.mit.edu 37 12 122689184 122689184 + Missense_Mutation SNP T T G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:122689184T>G ENST00000324189.4 + 2 375 c.19T>G c.(19-21)Tcc>Gcc p.S7A B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_5'UTR|B3GNT4_ENST00000546192.1_Intron NM_030765.2 NP_110392.1 Q9C0J1 B3GN4_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 7 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222) TCCCCAGCCTTCCGCAGCCCA 0.652000 7 26 0 0 1 0 0 OXCT2 64064 broad.mit.edu 37 1 40236123 40236123 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:40236123C>T ENST00000327582.5 - 1 897 c.805G>A c.(805-807)Gtg>Atg p.V269M BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 269 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) CCCTTTATCACGCGATCTACA 0.532000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 107 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58232719 58232719 + Silent SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:58232719T>C ENST00000317398.6 - 4 830 c.735A>G c.(733-735)aaA>aaG p.K245K AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Silent_p.K147K NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CTCTCCTACCTTTCCCACATG 0.527000 16 44 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121747297 121747297 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:121747297C>T ENST00000452319.1 + 14 3867 c.3807C>T c.(3805-3807)tcC>tcT p.S1269S GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.S1269S P10070 GLI2_HUMAN GLI family zinc finger 2 1269 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TCCCCCAATCCTGCAGCAACA 0.622000 24 15 0 0 1 0 0 TMEM208 29100 broad.mit.edu 37 16 67262275 67262275 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:67262275G>A ENST00000565201.1 + 3 171 c.120G>A c.(118-120)gtG>gtA p.V40V TMEM208_ENST00000304800.9_Silent_p.V40V|TMEM208_ENST00000563953.1_5'UTR Q9BTX3 TM208_HUMAN transmembrane protein 208 40 integral to membrane breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) ACTGCCTTGTGACGTTGGTCT 0.512000 20 54 0 0 1 0 0 GPR37 2861 broad.mit.edu 37 7 124386891 124386891 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:124386891G>C ENST00000303921.2 - 2 2180 c.1530C>G c.(1528-1530)atC>atG p.I510M NM_005302.3 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 510 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAATGTTGCAGATATTTTCAG 0.418000 22 72 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23326230 23326230 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:23326230C>G ENST00000298032.5 + 19 2525 c.2441C>G c.(2440-2442)tCc>tGc p.S814C ARMC3_ENST00000376528.4_Missense_Mutation_p.S551C|ARMC3_ENST00000409983.3_Missense_Mutation_p.S807C NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 814 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATTGGTTGCTCCCTAGTTCGC 0.532000 26 59 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144922560 144922560 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:144922560T>C ENST00000529945.1 - 3 1775 c.1336A>G c.(1336-1338)Att>Gtt p.I446V PDE4DIP_ENST00000369349.3_Missense_Mutation_p.I283V|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I420V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I283V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I349V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I420V|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.I446V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I283V|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.I283V|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.I70V Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 283 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AGGTTCTGAATTGTACCATCT 0.388000 T PDGFRB MPD 48 383 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179263587 179263587 + Missense_Mutation SNP G G A rs11548636 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:179263587G>A ENST00000510187.1 + 7 1083 c.1067G>A c.(1066-1068)cGt>cAt p.R356H SQSTM1_ENST00000389805.4_Silent_p.P439P|SQSTM1_ENST00000402874.3_Silent_p.P355P|SQSTM1_ENST00000360718.5_Silent_p.P355P|SQSTM1_ENST00000376929.3_Silent_p.P355P|C5orf45_ENST00000403396.2_3'UTR Q13501 SQSTM_HUMAN sequestosome 1 0 Interaction with NTRK1 (By similarity). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCCCCCGCCGTTGTGACCAC 0.542000 48 56 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27788072 27788072 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:27788072C>G ENST00000545334.1 + 4 625 c.294C>G c.(292-294)ttC>ttG p.F98L PPFIBP1_ENST00000537927.1_Intron|PPFIBP1_ENST00000318304.8_Intron|PPFIBP1_ENST00000535047.1_Intron|PPFIBP1_ENST00000542629.1_Intron|PPFIBP1_ENST00000228425.6_Intron Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 0 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GTTCCAAATTCTGTTATAAAT 0.383000 14 15 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18644430 18644430 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:18644430G>A ENST00000433979.1 + 19 2724 c.2608G>A c.(2608-2610)Gat>Aat p.D870N PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D911N|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.D870N NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 870 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GTTCTTTCAAGATGTAAATAC 0.333000 12 59 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646428 19646428 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:19646428C>T ENST00000555938.1 + 7 643 c.631C>T c.(631-633)Cgc>Tgc p.R211C YJEFN3_ENST00000608404.1_Missense_Mutation_p.R211C|YJEFN3_ENST00000514277.4_Missense_Mutation_p.R212C|YJEFN3_ENST00000436027.5_Missense_Mutation_p.R162C CCCCTGCACCCGCGCGCTGGC 0.706000 3 9 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103440459 103440459 + Missense_Mutation SNP T T G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr14:103440459T>G ENST00000361246.2 - 12 1823 c.1535A>C c.(1534-1536)gAg>gCg p.E512A NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 512 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CACTGTGTCCTCAAGCTGTCG 0.532000 12 36 0 0 1 0 0 TFAP2E 339488 broad.mit.edu 37 1 36055616 36055616 + Missense_Mutation SNP G G A rs149882646 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:36055616G>A ENST00000373235.3 + 5 1079 c.871G>A c.(871-873)Gcc>Acc p.A291T NM_178548.3 NP_848643.2 Q6VUC0 AP2E_HUMAN transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) 291 H-S-H (helix-span-helix), dimerization. nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1) 2 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) TCGCAAGGCCGCCAATGTGAC 0.577000 3 26 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238726589 238726589 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:238726589G>A ENST00000316997.4 + 3 1162 c.1030G>A c.(1030-1032)Gga>Aga p.G344R RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.G344R NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 343 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGATTTTTGTGGAAATAAAAT 0.308000 28 20 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196530009 196530009 + Missense_Mutation SNP A A C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:196530009A>C ENST00000327134.3 + 4 732 c.410A>C c.(409-411)cAg>cCg p.Q137P NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 137 Autoregulatory region (By similarity). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) ACAGTGAAGCAGAAATATCTG 0.428000 36 19 0 0 1 0 0 BRSK2 9024 broad.mit.edu 37 11 1463777 1463777 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:1463777C>T ENST00000308219.9 + 5 857 c.471C>T c.(469-471)atC>atT p.I157I BRSK2_ENST00000526678.1_Silent_p.I157I|BRSK2_ENST00000531197.1_Silent_p.I157I|BRSK2_ENST00000528710.1_Silent_p.I97I|BRSK2_ENST00000308230.5_Silent_p.I157I|BRSK2_ENST00000382179.1_Silent_p.I203I|BRSK2_ENST00000528841.1_Silent_p.I157I|BRSK2_ENST00000544817.1_5'UTR NM_001256627.1|NM_003957.3 NP_001243556.1|NP_003948.2 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 157 Protein kinase. establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) ACATCCGCATCGCAGACTTTG 0.622000 19 9 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45872380 45872380 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:45872380G>A ENST00000391945.4 - 3 208 c.131C>T c.(130-132)tCa>tTa p.S44L ERCC2_ENST00000485403.2_Missense_Mutation_p.S20L|ERCC2_ENST00000221481.6_Missense_Mutation_p.S44L|ERCC2_ENST00000391940.4_Missense_Mutation_p.S20L|ERCC2_ENST00000391944.3_Missense_Mutation_p.S44L NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 44 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CCCGGTGCCTGAGGGCATCTC 0.587000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 18 77 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768141 31768141 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:31768141T>A ENST00000240587.4 - 2 2885 c.2558A>T c.(2557-2559)aAc>aTc p.N853I NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 853 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) CTCTGTCAAGTTCTTCAGCAT 0.527000 22 91 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407014 38407014 + Nonsense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:38407014C>G ENST00000361085.5 + 7 1280 c.935C>G c.(934-936)tCa>tGa p.S312* ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.S312* NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 TATAAGAATTCAGACCTCATT 0.423000 36 76 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8235550 8235550 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr8:8235550C>T ENST00000520004.1 - 3 633 c.369G>A c.(367-369)ccG>ccA p.P123P SGK223_ENST00000330777.4_Silent_p.P123P Q86YV5 SG223_HUMAN 123 ATP binding|non-membrane spanning protein tyrosine kinase activity CCTCCTGCTTCGGGAGGGGGA 0.552000 36 19 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78013909 78013909 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:78013909G>T ENST00000397545.4 + 3 419 c.392G>T c.(391-393)aGt>aTt p.S131I CCDC40_ENST00000374876.4_Missense_Mutation_p.S131I|CCDC40_ENST00000374877.3_Missense_Mutation_p.S131I|CCDC40_ENST00000269318.5_Missense_Mutation_p.S131I NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 131 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCATACGATAGTGTTAGCGGG 0.567000 4 45 1.024e-07 1.08949e-07 1 1 0 PCDHGA12 26025 broad.mit.edu 37 5 140811312 140811312 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:140811312C>T ENST00000252085.3 + 1 1128 c.986C>T c.(985-987)gCg>gTg p.A329V PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATATTCTGCGCGAGCCAAA 0.507000 50 71 0 0 1 0 0 MIPEP 4285 broad.mit.edu 37 13 24304530 24304530 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:24304530T>C ENST00000382172.3 - 19 2197 c.2099A>G c.(2098-2100)gAc>gGc p.D700G NM_005932.3 NP_005923 Q99797 MIPEP_HUMAN mitochondrial intermediate peptidase 700 protein processing involved in protein targeting to mitochondrion|proteolysis mitochondrial matrix metal ion binding|metalloendopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1) 27 all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14) all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232) CAGATCCAAGTCGGAAACGAG 0.413000 21 11 0 0 1 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98206189 98206189 + RNA SNP G G T rs117911431 by1000genomes TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:98206189G>T ENST00000443455.1 - 0 138 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B TTCCTTAATCGTCGGCTGCAA 0.562000 4 23 1 1 1 1 0 GPR98 84059 broad.mit.edu 37 5 89990019 89990019 + Nonsense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:89990019C>A ENST00000405460.2 + 33 7542 c.7446C>A c.(7444-7446)taC>taA p.Y2482* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2482 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) TCTGGACCTACAGGAAAAACA 0.493000 8 47 0.000157383 0.0001609 1 1 0 NEFM 4741 broad.mit.edu 37 8 24771306 24771306 + Translation_Start_Site SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr8:24771306G>A ENST00000221166.5 + 0 782 GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_De_novo_Start_InFrame|NEFM_ENST00000437366.2_De_novo_Start_InFrame P07197 NFM_HUMAN neurofilament, medium polypeptide neurofilament protein binding|structural constituent of cytoskeleton p.?(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGGCCTCCAAGATGAGCTACA 0.706000 4 4 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61527666 61527666 + Missense_Mutation SNP A A T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:61527666A>T ENST00000266070.4 - 8 2458 c.2133T>A c.(2131-2133)ttT>ttA p.F711L DIDO1_ENST00000395340.1_Missense_Mutation_p.F711L|DIDO1_ENST00000395343.1_Missense_Mutation_p.F711L|DIDO1_ENST00000395335.2_Missense_Mutation_p.F711L NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 711 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GAAACAAGTTAAACATCTCCT 0.388000 23 56 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247025300 247025300 + Silent SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:247025300T>A ENST00000366508.1 - 28 3937 c.3801A>T c.(3799-3801)tcA>tcT p.S1267S AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Silent_p.S1241S|AHCTF1_ENST00000391829.2_Silent_p.S1232S Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1232 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTTCCACAAATGAAATTCTAG 0.398000 21 21 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36779198 36779198 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:36779198G>A ENST00000416516.2 - 2 1443 c.953C>T c.(952-954)cCt>cTt p.P318L NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 318 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TAGCTTTGCAGGTTGGTCATC 0.567000 53 131 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197712742 197712742 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:197712742C>T ENST00000330198.4 + 8 932 c.910C>T c.(910-912)Ctc>Ttc p.L304F LMLN_ENST00000482695.1_Missense_Mutation_p.L252F|LMLN_ENST00000420910.2_Missense_Mutation_p.L304F|LMLN_ENST00000332636.5_Missense_Mutation_p.L252F NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 304 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) TGCAGATGGCCTCCCACCTTT 0.378000 17 10 0 0 1 0 0 ACOX3 8310 broad.mit.edu 37 4 8412072 8412072 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:8412072A>G ENST00000356406.5 - 6 631 c.554T>C c.(553-555)aTa>aCa p.I185T ACOX3_ENST00000503233.1_Missense_Mutation_p.I185T|ACOX3_ENST00000413009.2_Missense_Mutation_p.I185T NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 185 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 AGGGGAATGTATGATGAATTC 0.438000 27 16 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4859385 4859385 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:4859385C>A ENST00000323997.6 + 9 1146 c.1014C>A c.(1012-1014)aaC>aaA p.N338K ENO3_ENST00000518175.1_Missense_Mutation_p.N338K|ENO3_ENST00000519584.1_Missense_Mutation_p.N295K NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 338 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 AGGCCTGCAACTGTCTGCTGC 0.597000 21 54 2.4624e-09 2.66638e-09 1 1 0 DDX5 1655 broad.mit.edu 37 17 62496243 62496243 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:62496243T>C ENST00000225792.5 - 13 2044 c.1643A>G c.(1642-1644)aAt>aGt p.N548S DDX5_ENST00000450599.2_Missense_Mutation_p.N469S|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.N548S NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 548 cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) AGACACAAAATTACTTCCAAA 0.413000 T ETV4 prostate 59 60 0 0 1 0 0 PRPF38B 55119 broad.mit.edu 37 1 109242068 109242068 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:109242068G>A ENST00000370021.1 + 7 1371 c.734G>A c.(733-735)aGa>aAa p.R245K PRPF38B_ENST00000370025.4_Missense_Mutation_p.R356K Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 356 mRNA processing|RNA splicing spliceosomal complex p.R356T(1) NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) gatcgagaaagagagaaagaa 0.478000 8 26 0 0 1 0 0 PC 5091 broad.mit.edu 37 11 66636412 66636412 + Silent SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:66636412G>C ENST00000393960.1 - 10 1208 c.927C>G c.(925-927)acC>acG p.T309T PC_ENST00000355677.3_Silent_p.T309T|PC_ENST00000393958.2_Silent_p.T309T|PC_ENST00000524491.1_Silent_p.T269T|PC_ENST00000393955.2_Silent_p.T309T NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 309 ATP-grasp.|Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GGAACTCCACGGTGCCTGCGT 0.637000 17 49 0 0 1 0 0 LOC541473 541473 broad.mit.edu 37 7 75023544 75023544 + RNA SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:75023544C>T ENST00000275590.5 - 0 414 STAG3L1_ENST00000402225.5_RNA AATTTACCCTCTCCAAGTTTC 0.463000 6 28 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103907098 103907098 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:103907098C>T ENST00000278070.2 + 9 4388 c.4349C>T c.(4348-4350)tCa>tTa p.S1450L PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.S417L NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1450 Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TCGTCTTCCTCATCCCGATCT 0.597000 34 22 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 78130897 78130897 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:78130897A>G ENST00000354212.4 - 5 1215 c.962T>C c.(961-963)aTt>aCt p.I321T MAGI2_ENST00000419488.1_Missense_Mutation_p.I321T|MAGI2_ENST00000536571.1_Missense_Mutation_p.I153T|MAGI2_ENST00000522391.1_Missense_Mutation_p.I321T|MAGI2_ENST00000535697.1_Missense_Mutation_p.I158T NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 321 Interaction with DDN.|WW 1. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AACTCACTCAATGAAGTAGAC 0.393000 17 67 0 0 1 0 0 MESDC2 23184 broad.mit.edu 37 15 81282111 81282111 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr15:81282111G>A ENST00000261758.4 - 1 108 c.22C>T c.(22-24)Cgc>Tgc p.R8C NM_015154.1 NP_055969.1 Q14696 MESD_HUMAN mesoderm development candidate 2 8 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 ACGGCCTTGCGCGCCCACCTG 0.716000 13 3 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 236602 236602 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:236602G>A ENST00000264932.6 + 10 1435 c.1320G>A c.(1318-1320)gaG>gaA p.E440E SDHA_ENST00000510361.1_Silent_p.E392E|SDHA_ENST00000504309.1_Silent_p.E440E NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 440 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.E440E(1) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCTGTGGGGAGGCCGCCTGTG 0.592000 Familial Paragangliomas 20 47 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10298707 10298707 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:10298707T>A ENST00000403437.2 - 34 4799 c.4705A>T c.(4705-4707)Aac>Tac p.N1569Y RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1569 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TTGACTTGGTTTAACTCAAGC 0.393000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 21 64 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194174455 194174455 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:194174455G>A ENST00000439040.1 - 10 1609 c.818C>T c.(817-819)tCa>tTa p.S273L ATP13A3_ENST00000256031.4_Missense_Mutation_p.S273L Q9H7F0 AT133_HUMAN ATPase type 13A3 273 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) TCTACAAACTGAAACTCTTAC 0.348000 19 24 0 0 1 0 0 FAM86EP 348926 broad.mit.edu 37 4 3954855 3954855 + RNA SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:3954855G>T ENST00000281228.8 - 0 143 FAM86EP_ENST00000313946.8_RNA AAAATATCCCGCCGCAGCTCA 0.493000 4 62 0.0215528 0.0217909 1 1 0 MED12 9968 broad.mit.edu 37 X 70349240 70349240 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:70349240G>A ENST00000333646.6 + 26 3851 c.3652G>A c.(3652-3654)Gga>Aga p.G1218R MED12_ENST00000374102.1_Missense_Mutation_p.G1218R|MED12_ENST00000374080.3_Missense_Mutation_p.G1218R NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1218 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CATCGTGGATGGAGCCGTGTT 0.577000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 20 0 0 1 0 0 TMEM255B 348013 broad.mit.edu 37 13 114514838 114514838 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:114514838T>C ENST00000375353.3 + 9 970 c.943T>C c.(943-945)Ttt>Ctt p.F315L TMEM255B_ENST00000467169.1_3'UTR NM_182614.2 NP_872420.1 transmembrane protein 255B ACCCACCTACTTTCCCCCGGG 0.567000 18 75 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131476886 131476886 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:131476886C>T ENST00000261654.5 + 8 1474 c.915C>T c.(913-915)ctC>ctT p.L305L GPR133_ENST00000535015.1_Silent_p.L337L|RP11-76C10.5_ENST00000542980.1_lincRNA NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 305 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ATGTATCCCTCAGCTTACCCA 0.502000 30 86 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7734577 7734577 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:7734577C>T ENST00000572933.1 + 80 13864 c.12404C>T c.(12403-12405)tCc>tTc p.S4135F DNAH2_ENST00000389173.2_Missense_Mutation_p.S4135F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4135 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) ACTTTGCTTTCCTTGCAACCT 0.572000 32 158 0 0 1 0 0 SLC46A2 57864 broad.mit.edu 37 9 115652599 115652599 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:115652599G>A ENST00000374228.4 - 1 594 c.363C>T c.(361-363)ctC>ctT p.L121L NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 121 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 GCAGCAGCCCGAGGCGGGAGA 0.677000 28 12 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105923955 105923955 + Silent SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:105923955A>G ENST00000526793.1 - 3 1620 c.1461T>C c.(1459-1461)tcT>tcC p.S487S KBTBD3_ENST00000534815.1_Silent_p.S408S|KBTBD3_ENST00000531837.1_Silent_p.S487S NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 483 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) CTACTAGTTCAGACCACTGAT 0.348000 21 8 0 0 1 0 0 SAMHD1 25939 broad.mit.edu 37 20 35579911 35579911 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:35579911C>T ENST00000262878.4 - 1 335 c.136G>A c.(136-138)Ggt>Agt p.G46S SAMHD1_ENST00000373694.5_5'UTR NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 46 SAM. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) TGCTCCGGACCCCATGTCTTG 0.652000 32 148 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3936218 3936218 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:3936218G>A ENST00000381638.2 - 41 6787 c.6663C>T c.(6661-6663)gtC>gtT p.V2221V NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2221 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 AGGTGGCAATGACATCACGCC 0.587000 7 14 0 0 1 0 0 LRRC37A5P 652972 broad.mit.edu 37 9 114371493 114371493 + RNA SNP C C T rs12351897 by1000genomes TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:114371493C>T ENST00000374304.1 - 0 306 CTTCTCACATCGTTGTTGGGG 0.502000 6 106 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23718361 23718361 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:23718361G>T ENST00000256797.4 - 5 658 c.490C>A c.(490-492)Ccc>Acc p.P164T ERN2_ENST00000457008.2_Missense_Mutation_p.P116T NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 116 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CTGCGGCAGGGAGAGGCATGA 0.552000 13 27 1.05317e-09 1.15407e-09 1 1 0 TNK2 10188 broad.mit.edu 37 3 195599181 195599181 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:195599181G>C ENST00000333602.6 - 10 2034 c.1417C>G c.(1417-1419)Cgc>Ggc p.R473G TNK2_ENST00000428187.1_Missense_Mutation_p.R505G|TNK2_ENST00000316664.3_Missense_Mutation_p.R473G|TNK2_ENST00000392400.1_Missense_Mutation_p.R473G|TNK2_ENST00000381916.2_Missense_Mutation_p.R536G NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 473 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CAGCAGTGGCGGGGGTCACTG 0.677000 8 18 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28737511 28737511 + Silent SNP C C G rs147816863 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr18:28737511C>G ENST00000257197.3 - 3 435 c.174G>C c.(172-174)tcG>tcC p.S58S RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.S58S NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 58 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTAGGCTGGCCGACTTGAGAC 0.448000 14 43 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10099815 10099815 + Silent SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:10099815T>C ENST00000264828.3 - 27 2215 c.2130A>G c.(2128-2130)ggA>ggG p.G710G NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 710 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CTCCCCGAGGTCCAGGATAGC 0.542000 28 50 0 0 1 0 0 FAM213B 127281 broad.mit.edu 37 1 2520046 2520046 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:2520046C>T ENST00000378424.4 + 5 602 c.586C>T c.(586-588)Ctg>Ttg p.L196L FAM213B_ENST00000444521.2_Silent_p.L166L|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000378425.5_Silent_p.L148L|FAM213B_ENST00000419916.2_Silent_p.L178L|FAM213B_ENST00000484099.1_3'UTR Q8TBF2 PGFS_HUMAN family with sequence similarity 213, member B 148 prostaglandin biosynthetic process cytosol oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GAGCGGAGGGCTGCTGGTGGT 0.632000 30 79 0 0 1 0 0 ACTL6B 51412 broad.mit.edu 37 7 100244899 100244899 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:100244899G>A ENST00000160382.5 - 9 874 c.768C>T c.(766-768)atC>atT p.I256I NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 256 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGAAGTCCTGGATCACCTCCT 0.672000 22 23 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139193876 139193876 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:139193876C>G ENST00000274710.3 + 4 1148 c.943C>G c.(943-945)Cat>Gat p.H315D NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 315 SEC7. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.H315Y(1) 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) TGAAGCTGCTCATCGGCTGGC 0.647000 22 38 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40569194 40569194 + Missense_Mutation SNP G G A rs145664878 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr21:40569194G>A ENST00000342449.3 - 41 5879 c.5801C>T c.(5800-5802)aCg>aTg p.T1934M BRWD1_ENST00000333229.2_Missense_Mutation_p.T1934M|BRWD1_ENST00000380800.3_Missense_Mutation_p.T1934M NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1934 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTGGCAGCCGTAGCTGCACA 0.423000 56 29 0 0 1 0 0 MRPS10 55173 broad.mit.edu 37 6 42179605 42179605 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:42179605C>G ENST00000053468.3 - 4 252 c.237G>C c.(235-237)ttG>ttC p.L79F NM_018141.3 NP_060611.2 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 79 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome endometrium(1)|lung(1) 2 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) GACCTTTCACCAAAACCGAGA 0.363000 28 48 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57842668 57842668 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:57842668C>T ENST00000264230.4 - 1 2321 c.1084G>A c.(1084-1086)Gat>Aat p.D362N NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 362 GTP binding GTGCAGTAATCGGACTCCAGG 0.607000 14 14 0 0 1 0 0 KHSRP 8570 broad.mit.edu 37 19 6418059 6418059 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:6418059C>T ENST00000398148.3 - 10 1003 c.911G>A c.(910-912)cGg>cAg p.R304Q NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 304 Gly-rich. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 GTCACGTTCCCGGAGGATGTC 0.642000 OREG0025200 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 21 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15705592 15705592 + Splice_Site SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:15705592C>T ENST00000396368.3 - 18 3681 c.e18-1 KIAA0430_ENST00000551742.1_Splice_Site|KIAA0430_ENST00000344181.3_Splice_Site|KIAA0430_ENST00000548025.1_Splice_Site|KIAA0430_ENST00000602337.1_Splice_Site|KIAA0430_ENST00000540441.2_Splice_Site NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TTCCAAGAATCTGCAAAGCAA 0.488000 24 26 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32900694 32900694 + Missense_Mutation SNP T T C rs80358805 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:32900694T>C ENST00000544455.1 + 7 802 c.575T>C c.(574-576)aTg>aCg p.M192T BRCA2_ENST00000380152.3_Missense_Mutation_p.M192T NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 192 M -> T (in one patient with pancreatic cancer). cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GATCCTGATATGTCTTGGTCA 0.393000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 45 37 0 0 1 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391746 75391746 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:75391746G>A ENST00000359322.4 - 6 1206 c.842C>T c.(841-843)cCt>cTt p.P281L NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 281 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) GTAGTCTACAGGCTCCCCAGA 0.532000 21 32 0 0 1 0 0 CRCT1 54544 broad.mit.edu 37 1 152487972 152487972 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:152487972C>A ENST00000368790.3 + 2 186 c.113C>A c.(112-114)tCc>tAc p.S38Y NM_019060.2 NP_061933.1 Q9UGL9 CRCT1_HUMAN cysteine-rich C-terminal 1 38 lung(1)|ovary(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) tcctcctcctccTGCTGCGGC 0.736000 6 10 0.27861 0.280141 1 1 0 RNLS 55328 broad.mit.edu 37 10 90034726 90034726 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:90034726G>A ENST00000371947.3 - 7 2279 c.940C>T c.(940-942)Ccc>Tcc p.P314S RNLS_ENST00000437752.1_Missense_Mutation_p.P231S NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 0 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 AGTCAGATGGGAAATCCAATC 0.418000 10 40 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161771931 161771931 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:161771931G>A ENST00000367942.3 + 7 845 c.778G>A c.(778-780)Ggg>Agg p.G260R NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 260 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TGCTGTTGCTGGGGGAGTCAC 0.532000 23 71 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30702216 30702216 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr8:30702216C>A ENST00000256246.2 - 1 4392 c.4318G>T c.(4318-4320)Gat>Tat p.D1440Y NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1440 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTACATTATCTTTTAAAAGC 0.348000 8 28 0.000157383 0.0001609 1 1 0 GJB4 127534 broad.mit.edu 37 1 35227230 35227230 + Silent SNP C C T rs147830069 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:35227230C>T ENST00000339480.1 + 2 745 c.375C>T c.(373-375)ggC>ggT p.G125G RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 125 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGAAGCGGGGCGGACTGTGGT 0.592000 14 28 0 0 1 0 0 TDRD9 122402 broad.mit.edu 37 14 104471727 104471727 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr14:104471727C>T ENST00000409874.4 + 15 1746 c.1698C>T c.(1696-1698)atC>atT p.I566I TDRD9_ENST00000339063.5_Silent_p.I566I NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 566 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) AGCGCACCATCCTTCTACTAA 0.532000 14 26 0 0 1 0 0 SPIN4 139886 broad.mit.edu 37 X 62570455 62570455 + Missense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:62570455C>G ENST00000374884.2 - 1 768 c.190G>C c.(190-192)Gat>Cat p.D64H SPIN4_ENST00000335144.3_Missense_Mutation_p.D82H|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 82 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 TACACACTATCTTTGCCATCA 0.498000 4 17 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128638781 128638781 + Splice_Site SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:128638781T>C ENST00000371122.4 - 9 1228 c.e9-2 SMARCA1_ENST00000371121.3_Splice_Site|SMARCA1_ENST00000371123.1_Splice_Site NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 ATCAAAGTCCTGTAGAGGGGT 0.343000 26 36 0 0 1 0 0 SLC6A3 6531 broad.mit.edu 37 5 1406324 1406324 + Silent SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:1406324C>A ENST00000270349.9 - 12 1705 c.1578G>T c.(1576-1578)ctG>ctT p.L526L SLC6A3_ENST00000453492.2_Silent_p.L526L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 526 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGGGGCTGACCAGCTTCCAGC 0.672000 36 52 2.42023e-17 2.75095e-17 1 1 0 PWWP2A 114825 broad.mit.edu 37 5 159520621 159520621 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:159520621A>G ENST00000456329.3 - 2 1070 c.1036T>C c.(1036-1038)Tct>Cct p.S346P PWWP2A_ENST00000523662.1_Missense_Mutation_p.S346P|PWWP2A_ENST00000307063.7_Missense_Mutation_p.S346P NM_052927.2 NP_443159.1 Q96N64 PWP2A_HUMAN PWWP domain containing 2A 346 kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCATATTTAGAAGAGTCAGTT 0.328000 9 32 0 0 1 0 0 BAMBI 25805 broad.mit.edu 37 10 28970934 28970934 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:28970934T>A ENST00000375533.3 + 3 943 c.387T>A c.(385-387)caT>caA p.H129Q NM_012342.2 NP_036474.1 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 129 cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 GGTATCAGCATGATGGTAGCA 0.453000 38 67 0 0 1 0 0 SLC35E4 339665 broad.mit.edu 37 22 31032724 31032724 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr22:31032724G>A ENST00000343605.4 + 1 1086 c.287G>A c.(286-288)cGg>cAg p.R96Q SLC35E4_ENST00000406566.1_Missense_Mutation_p.R96Q|SLC35E4_ENST00000300385.8_Missense_Mutation_p.R96Q NM_001001479.2 NP_001001479.1 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 96 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GCATGCCACCGGGGGGCACGG 0.662000 12 3 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108115703 108115703 + Missense_Mutation SNP A A C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:108115703A>C ENST00000278616.4 + 7 1236 c.851A>C c.(850-852)cAa>cCa p.Q284P ATM_ENST00000452508.2_Missense_Mutation_p.Q284P NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 284 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTATTTCAACTGCAAATT 0.308000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 22 20 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87762258 87762258 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:87762258G>A ENST00000398204.4 + 12 1392 c.1069G>A c.(1069-1071)Gtg>Atg p.V357M ADAM22_ENST00000265727.7_Missense_Mutation_p.V357M|ADAM22_ENST00000315984.7_Missense_Mutation_p.V357M|ADAM22_ENST00000398201.4_Missense_Mutation_p.V357M|ADAM22_ENST00000398209.3_Missense_Mutation_p.V357M NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 357 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AGGAGGAGGCGTGAATGAAGT 0.398000 5 70 0 0 1 0 0 CETN2 1069 broad.mit.edu 37 X 151997114 151997114 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:151997114C>A ENST00000370277.3 - 4 462 c.396G>T c.(394-396)gaG>gaT p.E132D CETN2_ENST00000493482.1_5'UTR NM_004344.1 NP_004335.1 P41208 CETN2_HUMAN centrin, EF-hand protein, 2 132 EF-hand 3. cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis centriole|cytosol|XPC complex ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(1)|lung(4)|prostate(1)|skin(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCTCACCCAACTCCTTGGCCA 0.418000 Direct reversal of damage;Nucleotide excision repair (NER) 28 35 1.68575e-08 1.81467e-08 1 1 0 KIAA0368 23392 broad.mit.edu 37 9 114151916 114151916 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:114151916G>T ENST00000259335.4 - 32 3900 c.3901C>A c.(3901-3903)Cgt>Agt p.R1301S KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.R1123S NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 AACTGGTAACGATAAAGTCGA 0.453000 17 23 2.23348e-06 2.33559e-06 1 1 0 FAHD2A 51011 broad.mit.edu 37 2 96072867 96072867 + Missense_Mutation SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:96072867G>C ENST00000233379.4 + 3 577 c.424G>C c.(424-426)Ggg>Cgg p.G142R FAHD2A_ENST00000447036.1_Missense_Mutation_p.G142R NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 142 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 CTCCATCGTGGGGCCCTATGA 0.577000 32 45 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48375154 48375154 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:48375154G>A ENST00000380518.3 - 37 2599 c.2435C>T c.(2434-2436)gCa>gTa p.A812V COL2A1_ENST00000337299.6_Missense_Mutation_p.A743V|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 812 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) AGCACTTCCTGCAGGACCAGG 0.637000 4 9 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5904525 5904525 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr20:5904525G>T ENST00000378961.4 + 4 1939 c.1735G>T c.(1735-1737)Gat>Tat p.D579Y NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 579 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CTTCTCTGAGGATGTGAACTG 0.502000 15 52 4.14922e-12 4.57414e-12 1 1 0 RSBN1 54665 broad.mit.edu 37 1 114340631 114340631 + Missense_Mutation SNP T T C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:114340631T>C ENST00000261441.5 - 2 794 c.731A>G c.(730-732)cAg>cGg p.Q244R NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 244 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCGGCTCTCTGGGTTTTACC 0.358000 44 71 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48985612 48985612 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:48985612G>A ENST00000378434.4 - 7 2572 c.948C>T c.(946-948)ttC>ttT p.F316F RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Silent_p.F316F NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 316 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 GAACTTCAGAGAATCTGAAGT 0.338000 24 87 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11206894 11206894 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chrX:11206894G>A ENST00000337414.4 - 4 1903 c.1031C>T c.(1030-1032)tCa>tTa p.S344L ARHGAP6_ENST00000534860.1_Missense_Mutation_p.S169L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.S153L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S376L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.S141L|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S344L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.S141L NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 344 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TGGGGACGTTGACTCATTCGG 0.498000 19 40 0 0 1 0 0 MLNR 2862 broad.mit.edu 37 13 49795318 49795318 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr13:49795318G>A ENST00000398307.1 + 1 845 c.845G>A c.(844-846)cGa>cAa p.R282Q MLNR_ENST00000218721.1_Missense_Mutation_p.R282Q O43193 MTLR_HUMAN motilin receptor 282 digestion integral to plasma membrane growth hormone-releasing hormone receptor activity endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1) 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) CGGCCGCTGCGAGGCCCGGCC 0.701000 20 4 0 0 1 0 0 FAM86EP 348926 broad.mit.edu 37 4 3954857 3954857 + RNA SNP C C A rs17410899 TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr4:3954857C>A ENST00000281228.8 - 0 141 FAM86EP_ENST00000313946.8_RNA AATATCCCGCCGCAGCTCAGA 0.488000 4 62 3.59834e-05 3.72031e-05 1 1 0 ZNF37A 7587 broad.mit.edu 37 10 38407098 38407098 + Nonsense_Mutation SNP C C G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr10:38407098C>G ENST00000361085.5 + 7 1364 c.1019C>G c.(1018-1020)tCa>tGa p.S340* ZNF37A_ENST00000351773.3_Nonsense_Mutation_p.S340* NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 AGTGAAAAGTCAACCCTTACT 0.393000 37 90 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37032673 37032673 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:37032673G>T ENST00000379242.3 + 14 1557 c.1255G>T c.(1255-1257)Ggc>Tgc p.G419C VIT_ENST00000389975.3_Missense_Mutation_p.G404C|VIT_ENST00000404084.1_Missense_Mutation_p.G356C|VIT_ENST00000401530.1_Missense_Mutation_p.G383C|VIT_ENST00000379241.3_Missense_Mutation_p.G382C|VIT_ENST00000497382.1_Missense_Mutation_p.G73C NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 404 VWFA 1. E -> V (in Ref. 1; AAL18263). 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) GATGGTGGATGGCTGGCCCAC 0.502000 23 106 2.39556e-15 2.6731e-15 1 1 0 GLI3 2737 broad.mit.edu 37 7 42005031 42005031 + Nonsense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:42005031G>A ENST00000395925.3 - 15 3724 c.3640C>T c.(3640-3642)Cag>Tag p.Q1214* GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1214 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CCGAGGGTCTGATAGCCCCCA 0.652000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 47 69 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 957650 957650 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:957650A>G ENST00000379370.2 + 2 321 c.271A>G c.(271-273)Aag>Gag p.K91E NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 91 NtA. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CGGCGGCAACAAGGTGGTGAT 0.602000 37 78 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82580339 82580339 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:82580339C>T ENST00000333891.9 - 6 9902 c.9565G>A c.(9565-9567)Gaa>Aaa p.E3189K PCLO_ENST00000423517.2_Missense_Mutation_p.E3189K NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAAACACTTCGGATGCTGTG 0.443000 12 18 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 6 67 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37429339 37429339 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:37429339G>A ENST00000373451.4 + 11 1274 c.1110G>A c.(1108-1110)gaG>gaA p.E370E CMTR1_ENST00000493656.1_3'UTR NM_015050.2 NP_055865.1 cap methyltransferase 1 370 p.E370D(1) TCTCGGTGGAGGGGCAGGAGA 0.512000 5 31 0 0 1 0 0 KANK3 256949 broad.mit.edu 37 19 8398105 8398105 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:8398105G>A ENST00000330915.3 - 7 1794 c.1729C>T c.(1729-1731)Cgc>Tgc p.R577C KANK3_ENST00000593649.1_Missense_Mutation_p.R577C NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 577 breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACGAGGCGCACTGCGCCC 0.706000 3 24 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31477644 31477644 + Silent SNP G G C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr6:31477644G>C ENST00000252229.6 + 6 1189 c.1110G>C c.(1108-1110)ctG>ctC p.L370L MICB_ENST00000538442.1_Silent_p.L338L|MICB_ENST00000399150.3_Silent_p.L327L NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 370 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 TTCAGCCTCTGATGTCAGCTA 0.577000 39 54 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47422438 47422438 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:47422438G>A ENST00000404338.3 + 1 506 c.506G>A c.(505-507)gGc>gAc p.G169D NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 169 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GTTAGCAGGGGCATGAATAGG 0.458000 30 37 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36229445 36229445 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:36229445G>A ENST00000420124.1 + 37 8135 c.8135G>A c.(8134-8136)cGg>cAg p.R2712Q KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.R2712Q lysine (K)-specific methyltransferase 2B CGCTGCCGTCGGTTCCTTAAC 0.652000 6 8 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1940432 1940432 + Silent SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr12:1940432G>A ENST00000543818.1 + 4 1241 c.399G>A c.(397-399)agG>agA p.R133R LRTM2_ENST00000535041.1_Silent_p.R133R|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000299194.1_Silent_p.R133R|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 133 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CCCTGGACAGGGACCTGCTGC 0.637000 OREG0005740 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CACNA2D4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 12 61 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72741012 72741012 + Splice_Site SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:72741012G>T ENST00000340415.3 + 7 1421 c.412G>T c.(412-414)Gcg>Tcg p.A138S RAB37_ENST00000528438.1_Splice_Site_p.A118S|RAB37_ENST00000392614.4_Splice_Site_p.A150S|RAB37_ENST00000392612.3_Splice_Site_p.A108S|RAB37_ENST00000392610.1_Splice_Site_p.A145S|RAB37_ENST00000392613.5_Splice_Site_p.A145S|RAB37_ENST00000392615.5_Splice_Site_p.A113S|RAB37_ENST00000402449.4_Splice_Site_p.A138S NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 145 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 GGCTTGACAGGCGGATATGAG 0.617000 OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 32 8.28177e-16 9.29794e-16 1 1 0 SCNN1G 6340 broad.mit.edu 37 16 23224042 23224042 + Missense_Mutation SNP G G T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:23224042G>T ENST00000300061.2 + 9 1481 c.1338G>T c.(1336-1338)gaG>gaT p.E446D CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 446 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) TCCAGGAAGAGCTGGGCTGCC 0.587000 18 71 4.96729e-08 5.31587e-08 1 1 0 POM121L12 285877 broad.mit.edu 37 7 53103824 53103824 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr7:53103824C>T ENST00000408890.4 + 1 476 c.460C>T c.(460-462)Cct>Tct p.P154S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 154 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CTGGAGATCCCCTGGACAGAG 0.726000 13 27 0 0 1 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149376783 149376783 + RNA SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:149376783C>A ENST00000415338.1 - 0 1061 HIST2H2BB_ENST00000609585.1_RNA GCCTGGTTTGCAGCTTTACTT 0.507000 8 51 0.00307968 0.00313101 1 1 0 ITGA2B 3674 broad.mit.edu 37 17 42462976 42462976 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr17:42462976C>T ENST00000262407.5 - 4 548 c.517G>A c.(517-519)Gag>Aag p.E173K ITGA2B_ENST00000353281.4_Missense_Mutation_p.E173K NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 173 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GGGGAGTACTCGGCGCGGCGG 0.617000 5 5 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129922 6129922 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:6129922T>A ENST00000316529.3 + 1 1009 c.914T>A c.(913-915)cTg>cAg p.L305Q RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAACTCAGACTGGGCTTTCAG 0.488000 57 51 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71368431 71368431 + Missense_Mutation SNP T T A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:71368431T>A ENST00000244230.2 + 7 1730 c.1378T>A c.(1378-1380)Tta>Ata p.L460I NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 460 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 GCGTTTAACCTTAGACCATGA 0.378000 89 180 0 0 1 0 0 GDNF 2668 broad.mit.edu 37 5 37834771 37834771 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:37834771G>A ENST00000326524.2 - 2 327 c.128C>T c.(127-129)gCg>gTg p.A43V GDNF_ENST00000344622.4_Intron|GDNF_ENST00000515058.1_Intron|GDNF_ENST00000427982.1_Missense_Mutation_p.A60V|GDNF_ENST00000381826.4_Intron NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 43 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) CGCGAAGGGCGCGCGGCGGCG 0.771000 3 16 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24567423 24567423 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr14:24567423G>A ENST00000216780.4 + 3 555 c.287G>A c.(286-288)cGc>cAc p.R96H PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Missense_Mutation_p.R108H|PCK2_ENST00000396973.4_Missense_Mutation_p.R96H|PCK2_ENST00000561286.1_5'UTR NM_004563.2 NP_004554.2 Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 96 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) TGGCTGGCCCGCACAGACCCC 0.592000 3 22 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48690396 48690396 + Missense_Mutation SNP G G A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr8:48690396G>A ENST00000314191.2 - 85 11946 c.11890C>T c.(11890-11892)Cgc>Tgc p.R3964C PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R3933C NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3965 PI3K/PI4K. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ATAAACTGGCGAGTTAGCCGA 0.483000 Non-homologous end-joining 14 73 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2290209 2290209 + Missense_Mutation SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr19:2290209C>T ENST00000585527.1 - 1 1814 c.1567G>A c.(1567-1569)Gac>Aac p.D523N LINGO3_ENST00000404279.1_Missense_Mutation_p.D523N P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 523 integral to membrane lung(1)|urinary_tract(1) 2 GTGGTGAGGTCGAGCGGCGCG 0.716000 14 11 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438648 120438648 + Silent SNP A A T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr1:120438648A>T ENST00000369400.1 - 1 470 c.312T>A c.(310-312)ccT>ccA p.P104P NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 104 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTGGTATGTAAGGATGATCCT 0.502000 33 35 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171773245 171773245 + Silent SNP C C T TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:171773245C>T ENST00000311601.5 - 12 1253 c.1083G>A c.(1081-1083)ccG>ccA p.P361P SH3PXD2B_ENST00000519643.1_Silent_p.P361P NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 361 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGGCGGCTTCGGCAGGTTGA 0.597000 25 105 0 0 1 0 0 CDC25A 993 broad.mit.edu 37 3 48224431 48224431 + Missense_Mutation SNP C C A TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:48224431C>A ENST00000302506.3 - 5 825 c.417G>T c.(415-417)gaG>gaT p.E139D CDC25A_ENST00000351231.3_Missense_Mutation_p.E139D NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 139 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TTTCCTTGTTCTCATCTGGGT 0.483000 29 61 3.73148e-12 4.13855e-12 1 1 0 FAM208A 23272 broad.mit.edu 37 3 56662575 56662575 + Missense_Mutation SNP A A G TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr3:56662575A>G ENST00000431842.2 - 12 3428 c.2504T>C c.(2503-2505)tTa>tCa p.L835S FAM208A_ENST00000355628.5_Missense_Mutation_p.L1211S|FAM208A_ENST00000493960.2_Missense_Mutation_p.L1272S NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1272 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 TAGTTTATCTAATTTTGATCT 0.274000 16 41 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207169788 207169789 + Frame_Shift_Ins INS - - C TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:207169788_207169789insC ENST00000374423.3 + 5 922_923 c.536_537insC c.(535-540)cgccccfs p.RP179fs NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 179 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AACTTGGTACGCCCCCCAGTGA 0.426 18 24 --- --- --- --- RHBDD1 84236 broad.mit.edu 37 2 227779059 227779059 + Frame_Shift_Del DEL G G - TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr2:227779059delG ENST00000392062.2 + 8 1372 c.848delG c.(847-849)tggfs p.W283fs RHBDD1_ENST00000409053.1_Frame_Shift_Del_p.W117fs|RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000341329.3_Frame_Shift_Del_p.W283fs NM_001167608.1 NP_001161080.1 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 283 integral to membrane serine-type endopeptidase activity breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) GCCAGCCTCTGGGACCGAGGT 0.443 21 24 --- --- --- --- FBXO38 81545 broad.mit.edu 37 5 147781970 147781974 + Frame_Shift_Del DEL TCATA TCATA - TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr5:147781970_147781974delTCATA ENST00000340253.5 + 5 654_658 c.486_490delTCATA c.(484-492)gttcatattfs p.HI163fs FBXO38_ENST00000296701.6_Frame_Shift_Del_p.HI163fs|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Frame_Shift_Del_p.HI163fs|FBXO38_ENST00000394370.3_Frame_Shift_Del_p.HI163fs Q6PIJ6 FBX38_HUMAN F-box protein 38 163 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCCCATGTTCATATTTTGGGGAA 0.346 25 67 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414278 20414280 + In_Frame_Del DEL CTG CTG - TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr9:20414278_20414280delCTG ENST00000380338.4 - 5 850_852 c.564_566delCAG c.(562-567)agcagt>agt p.188_189SS>S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.185_186SS>S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) ACTGGTActactgctgctgctgc 0.507 T MLL ALL 7 124 --- --- --- --- SIDT2 51092 broad.mit.edu 37 11 117064644 117064645 + In_Frame_Ins INS - - TCT TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr11:117064644_117064645insTCT ENST00000324225.4 + 24 2818_2819 c.2287_2288insTCT c.(2287-2289)ctc>cTCTtc p.767_768insF SIDT2_ENST00000431081.2_In_Frame_Ins_p.764_765insF|SIDT2_ENST00000532062.1_In_Frame_Ins_p.59_60insF NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 767 Poly-Phe. integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) GGGCTTCGCGCTCTTCTTCTTC 0.604 20 26 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTTT rs139112308 by1000genomes TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:32077916_32077917insTTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 6 4 --- --- --- --- ZC3H18 124245 broad.mit.edu 37 16 88666210 88666211 + Frame_Shift_Ins INS - - GC TCGA-FT-A3EE-01A-11D-A202-08 TCGA-FT-A3EE-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ffdd4feb-aca3-4104-b1e8-954d705a6450 db3bb39b-a1a6-49af-aae3-7cb489a724e4 g.chr16:88666210_88666211insGC ENST00000301011.5 + 6 1142_1143 c.942_943insGC c.(943-945)gcafs p.A315fs ZC3H18_ENST00000452588.2_Frame_Shift_Ins_p.A339fs NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 315 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) TTTTAAAAAAAGCAACTATTCG 0.431 38 121 --- --- --- ---