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 SPG7 6687 broad.mit.edu 37 16 89620342 89620342 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:89620342C>G ENST00000268704.2 + 15 2092 c.2077C>G c.(2077-2079)Caa>Gaa p.Q693E NM_003119.2 NP_003110.1 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 (pure and complicated autosomal recessive) 693 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CCCCTTCAGCCAAGGCCTGCA 0.662000 7 18 0 0 0.248553 0 0 ZPLD1 131368 broad.mit.edu 37 3 102187940 102187940 + Silent SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:102187940C>A ENST00000306176.1 + 8 1042 c.942C>A c.(940-942)acC>acA p.T314T ZPLD1_ENST00000491959.1_Silent_p.T298T|ZPLD1_ENST00000466937.1_Silent_p.T298T NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 298 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ACTGCGTTACCAAGCTCTGCA 0.433000 50 76 7.02699e-11 8.24247e-11 0.870114 1 0 MUC17 140453 broad.mit.edu 37 7 100681196 100681196 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:100681196C>G ENST00000306151.4 + 3 6563 c.6499C>G c.(6499-6501)Cct>Gct p.P2167A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2167 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACAAGTATGCCTGTCAGCAC 0.468000 45 69 0 0 0.870114 0 0 MPPED2 744 broad.mit.edu 37 11 30516991 30516991 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:30516991G>C ENST00000448418.2 - 4 748 c.388C>G c.(388-390)Ctt>Gtt p.L130V MPPED2_ENST00000358117.5_Missense_Mutation_p.L130V NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 130 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 TGTTTAACAAGGTCTGCCATG 0.388000 19 69 0 0 0.608945 0 0 B4GALNT3 283358 broad.mit.edu 37 12 657408 657408 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:657408C>T ENST00000266383.5 + 9 811 c.798C>T c.(796-798)aaC>aaT p.N266N B4GALNT3_ENST00000544638.1_3'UTR NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 266 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) GGCGACGGAACGACCCTGGAG 0.592000 8 14 0 0 0.361761 0 0 CACHD1 57685 broad.mit.edu 37 1 65099811 65099811 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:65099811G>A ENST00000371073.2 + 7 874 c.874G>A c.(874-876)Gag>Aag p.E292K CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.E241K Q5VU97 CAHD1_HUMAN cache domain containing 1 292 VWFA. calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGCCACCAGTGAGACAAAAAG 0.473000 17 41 0 0 0.539581 0 0 KDM5C 8242 broad.mit.edu 37 X 53231148 53231148 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrX:53231148C>T ENST00000452825.3 - 11 2085 c.1553G>A c.(1552-1554)cGc>cAc p.R518H KDM5C_ENST00000375379.3_Missense_Mutation_p.R585H|KDM5C_ENST00000375383.3_Missense_Mutation_p.R544H|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375401.3_Missense_Mutation_p.R585H|KDM5C_ENST00000404049.3_Missense_Mutation_p.R584H NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 585 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CTGGTTTGTGCGGACAACCTG 0.468000 """N, F, S""" clear cell renal carcinoma 3 37 0 0 0.115264 0 0 FOS 2353 broad.mit.edu 37 14 75747810 75747810 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:75747810G>A ENST00000303562.4 + 4 1035 c.826G>A c.(826-828)Gca>Aca p.A276T FOS_ENST00000555686.1_Missense_Mutation_p.A162T|FOS_ENST00000535987.1_Missense_Mutation_p.A240T|FOS_ENST00000555347.1_Missense_Mutation_p.A128T NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 276 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CCTGTTCCCAGCATCATCCAG 0.582000 9 41 0 0 0.307466 0 0 SLC23A3 151295 broad.mit.edu 37 2 220034256 220034256 + Missense_Mutation SNP A A C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:220034256A>C ENST00000455516.2 - 2 354 c.307T>G c.(307-309)Tgg>Ggg p.W103G SLC23A3_ENST00000295738.7_Missense_Mutation_p.W103G|SLC23A3_ENST00000409878.3_Missense_Mutation_p.W103G|SLC23A3_ENST00000396775.3_Missense_Mutation_p.W45G NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 103 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGCCCATCCAAGTTTGCAGG 0.577000 32 138 0 0 0.819951 0 0 TLN2 83660 broad.mit.edu 37 15 62949974 62949974 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:62949974G>C ENST00000561311.1 + 8 895 c.665G>C c.(664-666)cGg>cCg p.R222P TLN2_ENST00000306829.6_Missense_Mutation_p.R222P Q9Y4G6 TLN2_HUMAN talin 2 222 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TTTCAGGCACGGGATGACATC 0.512000 6 133 0 0 0.217242 0 0 GPR111 222611 broad.mit.edu 37 6 47645579 47645579 + Splice_Site SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:47645579G>A ENST00000398742.2 + 2 122 c.72_splice c.e2-1 p.A25_splice GPR111_ENST00000507065.1_Splice_Site_p.A25_splice|GPR111_ENST00000296862.1_Splice_Site_p.A93_splice Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 93 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CCCTTTCTAGGCTGCAAGCAA 0.423000 13 77 0 0 0.479597 0 0 USP47 55031 broad.mit.edu 37 11 11944424 11944424 + Translation_Start_Site SNP T T A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:11944424T>A ENST00000539466.1 + 0 1583 USP47_ENST00000399455.2_Missense_Mutation_p.S478T|USP47_ENST00000339865.5_Missense_Mutation_p.S390T|USP47_ENST00000527733.1_Missense_Mutation_p.S458T Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) GATCTCAAAATCTGGACTTGA 0.343000 17 34 0 0 0.624587 0 0 OR2L2 26246 broad.mit.edu 37 1 248201629 248201629 + Silent SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:248201629A>T ENST00000366479.2 + 1 156 c.60A>T c.(58-60)tcA>tcT p.S20S OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TCCCACAATCAAGAATTGGCC 0.383000 62 102 0 0 0.870114 0 0 WDR3 10885 broad.mit.edu 37 1 118479447 118479447 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:118479447A>T ENST00000349139.4 + 4 484 c.437A>T c.(436-438)aAg>aTg p.K146M WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 146 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TACCGTCTAAAGGGGCACAAG 0.343000 48 99 0 0 0.870114 0 0 EPS8L2 64787 broad.mit.edu 37 11 722496 722496 + Silent SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:722496C>A ENST00000533256.1 + 14 1530 c.1155C>A c.(1153-1155)gtC>gtA p.V385V AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.V401V|EPS8L2_ENST00000530636.1_Silent_p.V385V|EPS8L2_ENST00000318562.8_Silent_p.V385V Q9H6S3 ES8L2_HUMAN EPS8-like 2 385 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCACCTGGTCCCTAAGGAGA 0.672000 3 4 0.115264 0.117982 0.115264 1 0 NIN 51199 broad.mit.edu 37 14 51239175 51239175 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:51239175C>A ENST00000245441.5 - 9 1015 c.825G>T c.(823-825)gaG>gaT p.E275D NIN_ENST00000389868.3_Missense_Mutation_p.E275D|NIN_ENST00000382041.3_Missense_Mutation_p.E275D|NIN_ENST00000530997.2_Missense_Mutation_p.E275D|NIN_ENST00000324330.9_Missense_Mutation_p.E275D|NIN_ENST00000382043.4_Missense_Mutation_p.E275D|NIN_ENST00000453196.1_Missense_Mutation_p.E275D NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 275 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) GTCGTCCACTCTCATCGAAAG 0.502000 T PDGFRB MPD 30 55 1.45844e-13 1.76805e-13 0.769981 1 0 TRPM1 4308 broad.mit.edu 37 15 31318402 31318402 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:31318402C>A ENST00000542188.1 - 26 3933 c.3620G>T c.(3619-3621)cGg>cTg p.R1207L TRPM1_ENST00000256552.6_Missense_Mutation_p.R1190L|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1168L|RP11-348B17.1_ENST00000561299.1_RNA NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1168 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTCCTTCTCCCGGAAGTGCTC 0.617000 10 32 7.03913e-09 8.08196e-09 0.411799 1 0 STT3B 201595 broad.mit.edu 37 3 31656612 31656612 + Missense_Mutation SNP A A G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:31656612A>G ENST00000295770.2 + 6 1102 c.893A>G c.(892-894)tAc>tGc p.Y298C STT3B_ENST00000453168.1_3'UTR NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 298 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 AGCACTTTCTACATTGTGGGT 0.313000 19 23 0 0 0.539581 0 0 REV1 51455 broad.mit.edu 37 2 100021013 100021013 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:100021013C>T ENST00000258428.3 - 18 3167 c.2939G>A c.(2938-2940)gGa>gAa p.G980E REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.G979E NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 980 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGCAAAATTCCTGTATTACA 0.448000 Direct reversal of damage 6 160 0 0 0.248553 0 0 NBEA 26960 broad.mit.edu 37 13 35630161 35630161 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:35630161C>T ENST00000540320.1 + 7 1521 c.987C>T c.(985-987)agC>agT p.S329S NBEA_ENST00000379939.2_Silent_p.S329S|NBEA_ENST00000400445.3_Silent_p.S329S|NBEA_ENST00000310336.4_Silent_p.S329S Q8NFP9 NBEA_HUMAN neurobeachin 329 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACATGATCAGCATTGTCCACA 0.318000 4 48 0 0 0.335167 0 0 POLR2F 5435 broad.mit.edu 37 22 38355471 38355471 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr22:38355471C>T ENST00000442738.2 + 3 334 c.209C>T c.(208-210)gCg>gTg p.A70V POLR2F_ENST00000407936.1_Missense_Mutation_p.A70V|POLR2F_ENST00000488684.1_3'UTR|POLR2F_ENST00000484894.1_3'UTR|POLR2F_ENST00000470701.1_Missense_Mutation_p.A65V|POLR2F_ENST00000460648.1_Intron|POLR2F_ENST00000606538.1_Missense_Mutation_p.A70V|POLR2F_ENST00000405557.1_Missense_Mutation_p.A70V NM_021974.3 NP_068809.1 P61218 RPAB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide F 70 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1)|urinary_tract(2) 3 Melanoma(58;0.045) GGCACCCGAGCGCTCCAGATT 0.592000 4 80 0 0 0.150653 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80200036 80200036 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:80200036G>C ENST00000450142.2 - 13 1999 c.1733C>G c.(1732-1734)tCt>tGt p.S578C PPP1R12A_ENST00000261207.5_Missense_Mutation_p.S578C|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.S578C|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.S491C NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 578 Ser/Thr-rich. contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 CCCAGCTGCAGAGGTAACTGT 0.433000 8 225 0 0 0.307466 0 0 KLRG1 10219 broad.mit.edu 37 12 9162084 9162084 + Nonsense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:9162084C>G ENST00000266551.4 + 5 536 c.521C>G c.(520-522)tCa>tGa p.S174* KLRG1_ENST00000356986.3_Nonsense_Mutation_p.S174*|KLRG1_ENST00000538029.1_3'UTR NM_005810.3 NP_005801.3 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, member 1 174 C-type lectin. cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 CTTCAAGCCTCAAGCTGTGAA 0.433000 8 41 0 0 0.335167 0 0 GRIA4 2893 broad.mit.edu 37 11 105795326 105795326 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:105795326G>A ENST00000393127.2 + 12 2124 c.1678G>A c.(1678-1680)Gtg>Atg p.V560M GRIA4_ENST00000530497.1_Missense_Mutation_p.V560M|GRIA4_ENST00000282499.5_Missense_Mutation_p.V560M|GRIA4_ENST00000525187.1_Missense_Mutation_p.V560M NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 560 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TGGTGTCAGCGTGGTCTTATT 0.473000 13 36 0 0 0.411799 0 0 TLR9 54106 broad.mit.edu 37 3 52257315 52257315 + Nonstop_Mutation SNP A A C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:52257315A>C ENST00000494383.1 - 5 1476 c.1477T>G c.(1477-1479)Taa>Gaa p.*493E TLR9_ENST00000360658.2_Silent_p.L339L|TLR9_ENST00000597542.1_Silent_p.L363L Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) AGGACAGGTTAAGCTTGCGCA 0.557000 5 86 0 0 0.217242 0 0 UBQLNL 143630 broad.mit.edu 37 11 5537572 5537572 + Missense_Mutation SNP T T G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:5537572T>G ENST00000380184.1 - 1 363 c.100A>C c.(100-102)Ata>Cta p.I34L HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 34 Ubiquitin-like. endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) GTCTTCACTATCACTCGAGTG 0.483000 13 46 0 0 0.435327 0 0 CCDC135 84229 broad.mit.edu 37 16 57731941 57731941 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:57731941G>T ENST00000360716.3 + 3 301 c.80G>T c.(79-81)aGg>aTg p.R27M CCDC135_ENST00000394337.4_Missense_Mutation_p.R27M|CCDC135_ENST00000336825.8_Missense_Mutation_p.R27M|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 27 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GAATGGGCGAGGATGGAGAAA 0.592000 6 15 0.00116845 0.00124903 0.217242 1 0 ATP11B 23200 broad.mit.edu 37 3 182635879 182635879 + Nonsense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:182635879C>G ENST00000323116.5 + 30 3781 c.3521C>G c.(3520-3522)tCa>tGa p.S1174* NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1174 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ACAATGGACTCATCTACTTGT 0.438000 4 60 0 0 0.184627 0 0 CCNJ 54619 broad.mit.edu 37 10 97810018 97810018 + Silent SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:97810018G>A ENST00000265992.5 + 3 442 c.75G>A c.(73-75)ctG>ctA p.L25L CCNJ_ENST00000465148.2_Silent_p.L25L|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_Silent_p.L25L|CCNJ_ENST00000534974.1_Silent_p.L25L|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA NM_001134375.1|NM_001134376.1|NM_019084.4 NP_001127847.1|NP_001127848.1|NP_061957.2 Q5T5M9 CCNJ_HUMAN cyclin J 25 Cyclin N-terminal. nucleus breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 11 Epithelial(162;6.1e-08)|all cancers(201;2.32e-06) CTTAGGAGCTGAAGTTGCCCT 0.423000 19 31 0 0 0.592651 0 0 NTM 50863 broad.mit.edu 37 11 132180026 132180026 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:132180026G>A ENST00000374786.1 + 5 1161 c.682G>A c.(682-684)Gcc>Acc p.A228T NTM_ENST00000374791.3_Missense_Mutation_p.A228T|NTM_ENST00000427481.2_Missense_Mutation_p.A219T|NTM_ENST00000539799.1_Missense_Mutation_p.A228T|NTM_ENST00000425719.2_Missense_Mutation_p.A228T|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.A228T NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 228 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CATTTCAGAAGCCAAGGGTAC 0.483000 4 151 0 0 0.150653 0 0 GFRAL 389400 broad.mit.edu 37 6 55223906 55223906 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:55223906C>A ENST00000340465.2 + 6 1008 c.922C>A c.(922-924)Cag>Aag p.Q308K NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 308 integral to membrane receptor activity p.Q308K(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TAAGATTTTCCAGCACATGCT 0.358000 64 185 8.81991e-31 1.11925e-30 0.870114 1 0 RIN1 9610 broad.mit.edu 37 11 66099816 66099816 + Silent SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:66099816A>T ENST00000311320.4 - 10 2409 c.2283T>A c.(2281-2283)ggT>ggA p.G761G RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Silent_p.G595G NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 761 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CCTGGGCTTGACCCTGGCCCC 0.642000 17 40 0 0 0.500413 0 0 PNLIP 5406 broad.mit.edu 37 10 118310710 118310710 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:118310710G>C ENST00000369221.2 + 5 453 c.425G>C c.(424-426)gGa>gCa p.G142A PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 142 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AGGATCGTGGGAGCAGAAGTG 0.428000 9 22 0 0 0.411799 0 0 SDPR 8436 broad.mit.edu 37 2 192701434 192701434 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:192701434C>T ENST00000304141.4 - 2 822 c.493G>A c.(493-495)Gag>Aag p.E165K NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 165 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCAGGGATCTCATTTTCCTCC 0.468000 10 34 0 0 0.335167 0 0 SLC4A7 9497 broad.mit.edu 37 3 27436195 27436195 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:27436195C>A ENST00000295736.5 - 20 2974 c.2904G>T c.(2902-2904)atG>atT p.M968I SLC4A7_ENST00000428386.1_Missense_Mutation_p.M844I|SLC4A7_ENST00000388777.4_Missense_Mutation_p.M518I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.M849I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.M849I|SLC4A7_ENST00000435667.2_Missense_Mutation_p.M853I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.M977I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.M960I|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.M964I|SLC4A7_ENST00000445684.1_Missense_Mutation_p.M964I NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 968 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 ATGGAAGTCCCATGACAGAGC 0.423000 4 169 0.014758 0.0153966 0.184627 1 0 PTPRB 5787 broad.mit.edu 37 12 70963486 70963486 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:70963486C>T ENST00000334414.6 - 14 3647 c.3603G>A c.(3601-3603)ctG>ctA p.L1201L PTPRB_ENST00000550358.1_Silent_p.L1113L|PTPRB_ENST00000551525.1_Silent_p.L1200L|PTPRB_ENST00000538708.1_Silent_p.L983L|PTPRB_ENST00000451516.2_Silent_p.L893L|PTPRB_ENST00000261266.5_Silent_p.L983L|PTPRB_ENST00000550857.1_Silent_p.L893L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 983 Fibronectin type-III 14. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCTGATTCTTCAGGGACCCGC 0.517000 14 77 0 0 0.457914 0 0 SLC12A1 6557 broad.mit.edu 37 15 48577413 48577413 + Missense_Mutation SNP A A G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:48577413A>G ENST00000396577.3 + 21 2811 c.2596A>G c.(2596-2598)Aag>Gag p.K866E SLC12A1_ENST00000380993.3_Missense_Mutation_p.K866E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.K866E NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 866 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AAAAGCTGGCAAGTTGAACAT 0.368000 3 152 0 0 0.115264 0 0 OR6N2 81442 broad.mit.edu 37 1 158747247 158747247 + Missense_Mutation SNP T T A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:158747247T>A ENST00000339258.1 - 1 178 c.179A>T c.(178-180)tAc>tTc p.Y60F NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GACAAAGTGGTACATAGGTGT 0.433000 8 995 0 0 0.278610 0 0 C4orf40 401137 broad.mit.edu 37 4 71024571 71024571 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:71024571C>A ENST00000344526.5 + 3 791 c.602C>A c.(601-603)gCc>gAc p.A201D C4orf40_ENST00000502294.1_Missense_Mutation_p.A201D NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 201 Ala-rich. extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CCTGCTACAGCCAAGCCTGCT 0.527000 9 44 0.00829132 0.00881969 0.361761 1 0 HEATR2 54919 broad.mit.edu 37 7 803599 803599 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:803599G>A ENST00000297440.6 + 8 1791 c.1771G>A c.(1771-1773)Gtc>Atc p.V591I HEATR2_ENST00000313147.5_Missense_Mutation_p.V591I NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 591 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CAGTGTCATCGTCGCACAGTC 0.667000 3 18 0 0 0.150653 0 0 DMWD 1762 broad.mit.edu 37 19 46287967 46287967 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:46287967C>T ENST00000270223.6 - 4 1954 c.1909G>A c.(1909-1911)Gac>Aac p.D637N DMWD_ENST00000377735.3_Intron|AC011530.4_ENST00000593999.1_Intron NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 637 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) gtctcctcgtctgtgaactac 0.557000 4 69 0 0 0.150653 0 0 ANO5 203859 broad.mit.edu 37 11 22281166 22281166 + Silent SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:22281166G>A ENST00000324559.8 + 15 1826 c.1509G>A c.(1507-1509)caG>caA p.Q503Q NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 503 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTTAAAGCAGGTCAAAAGCT 0.388000 4 58 0 0 0.217242 0 0 LINC00521 256369 broad.mit.edu 37 14 94467711 94467711 + RNA SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:94467711G>A ENST00000444118.1 + 0 789 NR_024182.1 CGTGGCCCAGGGAGCTGGGGG 0.667000 3 15 0 0 0.150653 0 0 ANTXR2 118429 broad.mit.edu 37 4 80993620 80993620 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:80993620C>A ENST00000403729.2 - 1 620 c.95G>T c.(94-96)cGc>cTc p.R32L ANTXR2_ENST00000346652.6_Missense_Mutation_p.R32L|ANTXR2_ENST00000307333.7_Missense_Mutation_p.R32L|ANTXR2_ENST00000295465.4_Missense_Mutation_p.R32L|ANTXR2_ENST00000404191.1_Intron NM_058172.5 NP_477520.2 P58335 ANTR2_HUMAN anthrax toxin receptor 2 32 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 CTCCTGGGCGCGCAGCAGCCC 0.701000 Juvenile Hyaline Fibromatosis 6 12 0.0381472 0.039232 0.278610 1 0 OR7E24 26648 broad.mit.edu 37 19 9361929 9361929 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:9361929C>T ENST00000456448.1 + 1 324 c.210C>T c.(208-210)gaC>gaT p.D70D NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCAGCTCTGACTCCCACCTCC 0.582000 3 35 0 0 0.115264 0 0 STAT3 6774 broad.mit.edu 37 17 40474456 40474456 + Missense_Mutation SNP A A G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:40474456A>G ENST00000264657.5 - 21 2257 c.1945T>C c.(1945-1947)Tca>Cca p.S649P STAT3_ENST00000404395.3_Missense_Mutation_p.S649P|STAT3_ENST00000588969.1_Missense_Mutation_p.S649P|STAT3_ENST00000585517.1_Missense_Mutation_p.S649P|STAT3_ENST00000389272.3_Missense_Mutation_p.S551P NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 649 SH2. cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TCAGCAAATGACATGTTGTTC 0.473000 Hyperimmunoglobulin E Recurrent Infection Syndrome 6 101 0 0 0.307466 0 0 TTLL5 23093 broad.mit.edu 37 14 76135766 76135766 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:76135766C>T ENST00000298832.9 + 3 287 c.82C>T c.(82-84)Cca>Tca p.P28S TTLL5_ENST00000556977.1_Missense_Mutation_p.P28S|TTLL5_ENST00000557636.1_Missense_Mutation_p.P28S|TTLL5_ENST00000286650.5_Missense_Mutation_p.P28S NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 28 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TAGGGATCATCCATGCATCAT 0.403000 54 122 0 0 0.870114 0 0 OR4P4 81300 broad.mit.edu 37 11 55405947 55405947 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:55405947G>T ENST00000314612.2 + 1 114 c.114G>T c.(112-114)atG>atT p.M38I NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 CTATTTGGATGGGAAACTTAC 0.373000 24 105 9.22233e-05 0.000100565 0.681144 1 0 RMDN1 51115 broad.mit.edu 37 8 87487113 87487113 + Missense_Mutation SNP T T G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:87487113T>G ENST00000406452.3 - 9 989 c.830A>C c.(829-831)aAg>aCg p.K277T RMDN1_ENST00000430676.2_Missense_Mutation_p.K247T|RMDN1_ENST00000523911.1_Missense_Mutation_p.K220T|RMDN1_ENST00000519966.1_Missense_Mutation_p.K234T NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 AGCAGCAAGCTTTTTGTTGTG 0.378000 4 70 0 0 0.217242 0 0 OR9G4 283189 broad.mit.edu 37 11 56510345 56510345 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:56510345C>A ENST00000302957.3 - 1 942 c.943G>T c.(943-945)Gcc>Tcc p.A315S NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TTCCTGAAGGCCTCTTTGATA 0.408000 23 49 3.08376e-08 3.52198e-08 0.654019 1 0 POT1 25913 broad.mit.edu 37 7 124503684 124503684 + Translation_Start_Site SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:124503684T>C ENST00000393329.1 - 0 735 POT1_ENST00000357628.3_Missense_Mutation_p.Y89C NM_001042594.1 NP_001036059.1 Q9NUX5 POTE1_HUMAN protection of telomeres 1 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 CTCCTTTTTATATACTTGAAT 0.398000 32 94 0 0 0.769981 0 0 MT-TY 0 broad.mit.edu 37 MT 5887 5887 + RNA SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrM:5887T>C ENST00000387409.1 - 0 4 ACTCAGCCATTTTACCTCACC 0.438000 11 305 0 0 0.457914 0 0 HMCN1 83872 broad.mit.edu 37 1 186050516 186050516 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:186050516G>A ENST00000271588.4 + 56 9006 c.8777G>A c.(8776-8778)cGa>cAa p.R2926Q HMCN1_ENST00000367492.2_Missense_Mutation_p.R2926Q NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2926 Ig-like C2-type 27. response to stimulus|visual perception basement membrane calcium ion binding p.R2926Q(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TCTAATGGACGAATTCTGCAG 0.338000 47 170 0 0 0.870114 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860531 43860531 + Missense_Mutation SNP C C A rs149591802 byFrequency TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:43860531C>A ENST00000389420.3 - 9 1290 c.1291G>T c.(1291-1293)Gcc>Tcc p.A431S ADAMTS20_ENST00000553158.1_Missense_Mutation_p.A431S NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 431 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AAAGCAGGGGCCATTACATGA 0.303000 18 44 8.10497e-08 9.16031e-08 0.592651 1 0 NLRP5 126206 broad.mit.edu 37 19 56552450 56552450 + Silent SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:56552450G>A ENST00000390649.3 + 11 2949 c.2949G>A c.(2947-2949)caG>caA p.Q983Q NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 983 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTAGTCTGCAGAGGCTGATGT 0.537000 10 205 0 0 0.387290 0 0 NACAP1 83955 broad.mit.edu 37 8 102381116 102381116 + RNA SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:102381116G>C ENST00000419462.1 + 0 528 NR_002182.1 CCGCCATCTTGATTCCACGTT 0.537000 9 7 0 0 0.335167 0 0 GOLGA6L5P 374650 broad.mit.edu 37 15 85059998 85059998 + RNA SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:85059998G>A ENST00000560239.1 - 0 169 TGGGGAGGGAGGCGGGGTTGG 0.582000 4 6 0 0 0.150653 0 0 LINC01410 103352539 broad.mit.edu 37 9 66459909 66459909 + RNA SNP T T C rs146531631 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:66459909T>C ENST00000424345.1 + 0 169 cattaaaatcttgggcatgca 0.368000 5 31 0 0 0.248553 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224130 44224130 + Silent SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:44224130G>A ENST00000393812.3 - 3 452 c.309C>T c.(307-309)acC>acT p.T103T SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000537814.1_Intron NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 103 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACATCGGGGTGGTCTCTGCCG 0.637000 9 92 0 0 0.520397 0 0 PAPOLB 56903 broad.mit.edu 37 7 4901105 4901105 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:4901105C>T ENST00000404991.1 - 1 520 c.334G>A c.(334-336)Gca>Aca p.A112T RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 112 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) TCAATATCTGCGCCTTTCGTA 0.423000 4 46 0 0 0.150653 0 0 LINS 55180 broad.mit.edu 37 15 101110081 101110081 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:101110081C>T ENST00000314742.8 - 7 1858 c.1636G>A c.(1636-1638)Gat>Aat p.D546N NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 546 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TCAGTTGCATCAAAGTTATTG 0.348000 23 26 0 0 0.681144 0 0 MUC16 94025 broad.mit.edu 37 19 9072492 9072492 + Nonsense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:9072492G>T ENST00000397910.4 - 3 15157 c.14954C>A c.(14953-14955)tCa>tAa p.S4985* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4987 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTATCCTGTGATGTAGCCCC 0.473000 37 55 2.75727e-19 3.39959e-19 0.804634 1 0 PCDH17 27253 broad.mit.edu 37 13 58299398 58299398 + Silent SNP G G C rs141868878 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:58299398G>C ENST00000377918.3 + 4 3476 c.3450G>C c.(3448-3450)cgG>cgC p.R1150R NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1150 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AAGACTGCCGGGGAAACGACC 0.443000 58 110 0 0 0.870114 0 0 NLN 57486 broad.mit.edu 37 5 65077205 65077205 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:65077205C>G ENST00000380985.5 + 6 957 c.779C>G c.(778-780)aCc>aGc p.T260S NLN_ENST00000502464.1_Missense_Mutation_p.T156S NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 260 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) ATCCCTGAAACCAGAAGAAGG 0.303000 26 21 0 0 0.693898 0 0 RIN3 79890 broad.mit.edu 37 14 93118141 93118141 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:93118141C>T ENST00000216487.7 + 6 906 c.747C>T c.(745-747)acC>acT p.T249T RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 249 Pro-rich. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCCTGCCCACCGACCAGCCAC 0.617000 7 59 0 0 0.387290 0 0 PDE10A 10846 broad.mit.edu 37 6 165792718 165792718 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:165792718C>A ENST00000366882.1 - 19 2074 c.1920G>T c.(1918-1920)caG>caT p.Q640H PDE10A_ENST00000354448.4_Missense_Mutation_p.Q640H|PDE10A_ENST00000539869.2_Missense_Mutation_p.Q650H Q9Y233 PDE10_HUMAN phosphodiesterase 10A 640 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GTGATCCGGTCTGGTACATCT 0.373000 12 61 0.000151284 0.000164144 0.435327 1 0 CDH5 1003 broad.mit.edu 37 16 66413319 66413319 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:66413319G>C ENST00000341529.3 + 2 227 c.79G>C c.(79-81)Ggt>Cgt p.G27R CDH5_ENST00000563425.2_Missense_Mutation_p.G27R NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 27 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GGCAGCAGCAGGTGCTAACCC 0.602000 6 30 0 0 0.248553 0 0 RFX6 222546 broad.mit.edu 37 6 117216355 117216355 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:117216355C>A ENST00000332958.2 + 6 673 c.657C>A c.(655-657)agC>agA p.S219R RFX6_ENST00000471966.1_3'UTR NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 219 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TTTCTGGAAGCAAGCTAAAGA 0.299000 10 11 9.70103e-10 1.11975e-09 0.361761 1 0 PAPOLA 10914 broad.mit.edu 37 14 97022723 97022723 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:97022723G>C ENST00000216277.8 + 19 2197 c.1977G>C c.(1975-1977)gaG>gaC p.E659D PAPOLA_ENST00000392990.2_Missense_Mutation_p.E659D NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 659 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) ATAAAGAAGAGAGTCCCAAGA 0.378000 179 286 0 0 0.870114 0 0 HECW1 23072 broad.mit.edu 37 7 43503272 43503272 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:43503272C>A ENST00000395891.1 + 14 3270 c.2665C>A c.(2665-2667)Cag>Aag p.Q889K HECW1_ENST00000453890.1_Missense_Mutation_p.Q855K NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 889 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TCAAAACATTCAGCGAACCAT 0.483000 13 30 2.61681e-11 3.08613e-11 0.457914 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188367 140188367 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:140188367A>T ENST00000530339.1 + 1 1595 c.1595A>T c.(1594-1596)cAg>cTg p.Q532L PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.Q532L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.Q532L NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGCTGCAGTTTCAGGTG 0.652000 26 17 0 0 0.779181 0 0 BIN1 274 broad.mit.edu 37 2 127818195 127818195 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:127818195C>T ENST00000259238.4 - 10 1130 c.786G>A c.(784-786)tcG>tcA p.S262S BIN1_ENST00000393041.3_Intron|BIN1_ENST00000357970.3_Intron|BIN1_ENST00000316724.5_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000376113.2_Silent_p.S262S|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000352848.3_Silent_p.S262S|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000409400.1_Intron NM_139346.2 NP_647596.1 O00499 BIN1_HUMAN bridging integrator 1 285 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) TGCGCAGCCGCGAAAACAGTT 0.627000 3 24 0 0 0.184627 0 0 TRDN 10345 broad.mit.edu 37 6 123709670 123709670 + Nonsense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:123709670C>A ENST00000334268.4 - 14 1449 c.1132G>T c.(1132-1134)Gaa>Taa p.E378* TRDN_ENST00000398178.3_Nonsense_Mutation_p.E378* Q13061 TRDN_HUMAN triadin 378 muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 41 GBM - Glioblastoma multiforme(226;0.184) AACATACCTTCCTTCTTTTCA 0.383000 7 13 2.17888e-05 2.40008e-05 0.335167 1 0 LMAN2 10960 broad.mit.edu 37 5 176778186 176778186 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:176778186G>C ENST00000303127.7 - 2 507 c.303C>G c.(301-303)atC>atG p.I101M LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.I101M NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 101 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTGGTTCCAGATAGAGCCCT 0.582000 28 101 0 0 0.717897 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33684007 33684007 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:33684007C>A ENST00000504830.1 - 4 1123 c.788G>T c.(787-789)gGg>gTg p.G263V ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G263V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 263 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ATTCTCACTCCCATGGTATTC 0.512000 HNSCC(64;0.19) 53 85 5.19286e-32 6.70744e-32 0.870114 1 0 NSD1 64324 broad.mit.edu 37 5 176709559 176709559 + Missense_Mutation SNP T T A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:176709559T>A ENST00000439151.2 + 19 6031 c.5986T>A c.(5986-5988)Ttc>Atc p.F1996I NSD1_ENST00000361032.4_Missense_Mutation_p.F1893I|NSD1_ENST00000354179.4_Missense_Mutation_p.F1727I|NSD1_ENST00000347982.4_Missense_Mutation_p.F1727I NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1996 S-adenosyl-L-methionine binding.|SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TATCACTAATTTCTATATGCT 0.378000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 28 118 0 0 0.693898 0 0 DPYD 1806 broad.mit.edu 37 1 97544538 97544538 + Silent SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:97544538C>A ENST00000370192.3 - 23 3172 c.3072G>T c.(3070-3072)gtG>gtT p.V1024V NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 1024 V -> G (in Ref. 6; AAI31779). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity p.V1024V(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CACCTTAACACACCGGATTCA 0.408000 4 132 0.00909568 0.00953508 0.150653 1 0 CA12 771 broad.mit.edu 37 15 63637803 63637803 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:63637803G>T ENST00000178638.3 - 4 742 c.302C>A c.(301-303)cCc>cAc p.P101H CA12_ENST00000422263.2_Missense_Mutation_p.P41H|CA12_ENST00000344366.3_Missense_Mutation_p.P101H NM_001218.3 NP_001209.1 O43570 CAH12_HUMAN carbonic anhydrase XII 101 one-carbon metabolic process integral to membrane carbonate dehydratase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 16 Acetazolamide(DB00819) CATGTCCGAGGGCAGGTTCAG 0.647000 13 14 2.31682e-05 2.53914e-05 0.479597 1 0 BSN 8927 broad.mit.edu 37 3 49689543 49689543 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:49689543G>A ENST00000296452.4 + 5 2668 c.2554G>A c.(2554-2556)Gcc>Acc p.A852T NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 852 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CGAGATGAGCGCCGAGGAAGA 0.642000 5 22 0 0 0.217242 0 0 TMEM66 51669 broad.mit.edu 37 8 29927382 29927382 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:29927382G>A ENST00000256255.6 - 3 733 c.476C>T c.(475-477)tCt>tTt p.S159F TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 159 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) ATAATAATCAGAGAAAGAGGC 0.433000 6 87 0 0 0.217242 0 0 RPS18 6222 broad.mit.edu 37 6 33243778 33243778 + Nonsense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:33243778C>T ENST00000439602.2 + 4 336 c.226C>T c.(226-228)Cag>Tag p.Q76* RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_Nonsense_Mutation_p.Q6* P62269 RS18_HUMAN ribosomal protein S18 76 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 GAATCCACGCCAGTACAAGAT 0.517000 19 49 0 0 0.575678 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33684008 33684008 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:33684008C>A ENST00000504830.1 - 4 1122 c.787G>T c.(787-789)Ggg>Tgg p.G263W ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G263W NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 263 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TTCTCACTCCCATGGTATTCA 0.512000 HNSCC(64;0.19) 54 84 1.08141e-31 1.38855e-31 0.870114 1 0 RMDN1 51115 broad.mit.edu 37 8 87487184 87487184 + Splice_Site SNP T T G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:87487184T>G ENST00000406452.3 - 9 920 c.e9-2 RMDN1_ENST00000430676.2_Splice_Site|RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000519966.1_Intron NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 TTGGATCCACTGCACATAAGA 0.333000 6 58 0 0 0.217242 0 0 TTBK1 84630 broad.mit.edu 37 6 43220499 43220499 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:43220499G>A ENST00000259750.4 + 3 214 c.131G>A c.(130-132)gGc>gAc p.G44D TTBK1_ENST00000304139.5_5'UTR NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 44 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGGGGCGGGGGCTTTGGTGAG 0.587000 24 43 0 0 0.681144 0 0 TMCO3 55002 broad.mit.edu 37 13 114188487 114188487 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:114188487A>T ENST00000434316.2 + 9 1830 c.1471A>T c.(1471-1473)Atg>Ttg p.M491L TMCO3_ENST00000375391.1_Intron|TMCO3_ENST00000474393.1_3'UTR NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 491 integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GAAGCTGCACATGGAAAGCAA 0.353000 12 85 0 0 0.387290 0 0 MT-CYB 4519 broad.mit.edu 37 MT 14856 14856 + Missense_Mutation SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrM:14856T>C ENST00000361789.2 + 1 110 c.110T>C c.(109-111)cTt>cCt p.37_37insP mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 CGGCTCACTCCTTGGCGCCTG 0.483000 34 402 0 0 0.812448 0 0 ZNF813 126017 broad.mit.edu 37 19 53994808 53994808 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:53994808G>C ENST00000396403.4 + 4 1450 c.1322G>C c.(1321-1323)tGt>tCt p.C441S ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 441 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CCCTACAAGTGTACTGAGTGT 0.398000 34 11 0 0 0.819951 0 0 SCN10A 6336 broad.mit.edu 37 3 38739831 38739831 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:38739831G>T ENST00000449082.2 - 27 4879 c.4880C>A c.(4879-4881)tCc>tAc p.S1627Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1627 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGGAAAGCTGGACATACCGAA 0.532000 5 238 0.00116845 0.00124903 0.217242 1 0 ZNF263 10127 broad.mit.edu 37 16 3336081 3336081 + Missense_Mutation SNP A A C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:3336081A>C ENST00000219069.5 + 4 1577 c.701A>C c.(700-702)cAg>cCg p.Q234P ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000573578.1_3'UTR NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 234 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TGGGGGCATCAGGATCCTAGT 0.532000 17 72 0 0 0.557998 0 0 SVIL 6840 broad.mit.edu 37 10 29777571 29777571 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:29777571C>T ENST00000375398.2 - 25 4756 c.4307G>A c.(4306-4308)aGc>aAc p.S1436N SVIL_ENST00000355867.4_Missense_Mutation_p.S1436N|SVIL_ENST00000535393.1_Missense_Mutation_p.S350N|SVIL_ENST00000538146.1_Missense_Mutation_p.S228N|SVIL_ENST00000375400.3_Missense_Mutation_p.S1010N O95425 SVIL_HUMAN supervillin 1436 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGGCACGGCGCTGTTGTTAGA 0.532000 3 11 0 0 0.115264 0 0 USP1 7398 broad.mit.edu 37 1 62908992 62908992 + Splice_Site SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:62908992T>C ENST00000339950.4 + 5 1372 c.e5+2 USP1_ENST00000371146.1_Splice_Site NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) CACACTGAGGTATAGCCTATA 0.393000 3 21 0 0 0.115264 0 0 MUC17 140453 broad.mit.edu 37 7 100678546 100678546 + Missense_Mutation SNP A A G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:100678546A>G ENST00000306151.4 + 3 3913 c.3849A>G c.(3847-3849)atA>atG p.I1283M NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1283 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TAACAAGTATACCTGTCAGCA 0.473000 49 142 0 0 0.870114 0 0 F7 2155 broad.mit.edu 37 13 113772899 113772899 + Silent SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:113772899G>C ENST00000375581.3 + 9 1013 c.978G>C c.(976-978)cgG>cgC p.R326R F7_ENST00000346342.3_Silent_p.R304R|F7_ENST00000541084.1_Silent_p.R257R NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 326 Peptidase S1. R -> Q (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) TGCCCGAACGGACGTTCTCTG 0.682000 2 5 0 0 0.115264 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414788 213414788 + Nonsense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:213414788C>T ENST00000366960.3 + 11 2119 c.1969C>T c.(1969-1971)Cag>Tag p.Q657* RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.Q360*|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.Q645*|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.Q445* NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 657 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) GTTTAAAGCTCAGGACACCAT 0.403000 40 93 0 0 0.827153 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11213 11213 + Missense_Mutation SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrM:11213T>C ENST00000361381.2 + 1 454 c.454T>C c.(454-456)Tac>Cac p.152_152insH mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 ACTTCCTATTCTACACCCTAG 0.483000 4 497 0 0 0.217242 0 0 SHISA2 387914 broad.mit.edu 37 13 26620732 26620732 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:26620732C>T ENST00000319420.3 - 2 862 c.807G>A c.(805-807)ctG>ctA p.L269L NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 269 multicellular organismal development endoplasmic reticulum membrane|integral to membrane p.L269L(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 AGCCAGGCTGCAGGCCGTCCA 0.572000 9 41 0 0 0.387290 0 0 GXYLT1 283464 broad.mit.edu 37 12 42491397 42491397 + Silent SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:42491397C>A ENST00000398675.3 - 7 1240 c.1008G>T c.(1006-1008)ccG>ccT p.P336P GXYLT1_ENST00000280876.6_Silent_p.P305P NM_001099650.1|NM_173601.1 NP_001093120.1|NP_775872.1 Q4G148 GXLT1_HUMAN glucoside xylosyltransferase 1 336 O-glycan processing integral to membrane UDP-xylosyltransferase activity kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 TCCATTGACACGGAAAAACAA 0.348000 38 64 7.04047e-22 8.73019e-22 0.812448 1 0 DMWD 1762 broad.mit.edu 37 19 46289604 46289604 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:46289604C>G ENST00000270223.6 - 3 1195 c.1150G>C c.(1150-1152)Gag>Cag p.E384Q DMWD_ENST00000377735.3_Missense_Mutation_p.E384Q NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 384 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GCCGCCTCCTCTGCCCTTGTG 0.711000 4 42 0 0 0.150653 0 0 FNTA 2339 broad.mit.edu 37 8 42927367 42927367 + Nonsense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:42927367C>T ENST00000529687.1 + 5 985 c.97C>T c.(97-99)Cag>Tag p.Q33* RP11-598P20.5_ENST00000534420.1_Nonsense_Mutation_p.Q141*|FNTA_ENST00000342116.4_Nonsense_Mutation_p.Q117*|FNTA_ENST00000302279.3_Nonsense_Mutation_p.Q184* P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 184 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity p.Q184E(1) cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AGATCCATCTCAGGAGCTTGA 0.378000 6 69 0 0 0.217242 0 0 CACNA1S 779 broad.mit.edu 37 1 201047024 201047024 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:201047024C>A ENST00000362061.3 - 11 1828 c.1602G>T c.(1600-1602)agG>agT p.R534S CACNA1S_ENST00000367338.3_Missense_Mutation_p.R534S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 534 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TCTTGAAGATCCTCAGGAGGC 0.632000 16 25 4.75885e-15 5.80152e-15 0.520397 1 0 CRB1 23418 broad.mit.edu 37 1 197404462 197404462 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:197404462A>T ENST00000367397.1 + 5 2470 c.1612A>T c.(1612-1614)Atc>Ttc p.I538F CRB1_ENST00000544212.1_Missense_Mutation_p.I638F|CRB1_ENST00000535699.1_Missense_Mutation_p.I1133F|CRB1_ENST00000367400.3_Missense_Mutation_p.I1157F|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.I1045F P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 1157 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTGTGAAGACATCTATAGCTC 0.443000 32 44 0 0 0.769981 0 0 PPM1H 57460 broad.mit.edu 37 12 63195774 63195774 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:63195774C>A ENST00000228705.6 - 3 878 c.578G>T c.(577-579)gGg>gTg p.G193V NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 193 PP2C-like. phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) AGGCTCCTCCCCCAGGCAGGT 0.716000 14 28 1.52009e-12 1.82243e-12 0.479597 1 0 FOXB1 27023 broad.mit.edu 37 15 60297453 60297453 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:60297453C>G ENST00000396057.4 + 2 770 c.291C>G c.(289-291)ttC>ttG p.F97L FOXB1_ENST00000560857.1_Intron NM_012182.2 NP_036314.2 Q99853 FOXB1_HUMAN forkhead box B1 97 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|kidney(1)|lung(3)|ovary(1) 6 GGGACATGTTCGAGAACGGCA 0.662000 19 18 0 0 0.575678 0 0 UBR2 23304 broad.mit.edu 37 6 42627405 42627405 + Nonsense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:42627405C>G ENST00000372899.1 + 30 3512 c.3254C>G c.(3253-3255)tCa>tGa p.S1085* UBR2_ENST00000372901.1_Nonsense_Mutation_p.S1085*|UBR2_ENST00000372883.3_3'UTR NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1085 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CCTGTGGCTTCAGATATGACA 0.388000 15 25 0 0 0.575678 0 0 COL8A1 1295 broad.mit.edu 37 3 99509625 99509625 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:99509625C>G ENST00000261037.3 + 4 479 c.99C>G c.(97-99)atC>atG p.I33M COL8A1_ENST00000273342.4_Missense_Mutation_p.I33M NM_001850.4 NP_001841.2 P27658 CO8A1_HUMAN collagen, type VIII, alpha 1 33 Nonhelical region (NC2). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 ACTATGGGATCAAGCCGCTGC 0.552000 11 51 0 0 0.435327 0 0 COL5A2 1290 broad.mit.edu 37 2 189914110 189914110 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:189914110G>T ENST00000374866.3 - 44 3384 c.3110C>A c.(3109-3111)cCa>cAa p.P1037Q NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 1037 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ATTGGAGCCTGGGGGCCCCAC 0.453000 14 17 0.000308642 0.00033321 0.479597 1 0 CAPN3 825 broad.mit.edu 37 15 42689048 42689048 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:42689048A>T ENST00000397163.3 + 9 1385 c.1166A>T c.(1165-1167)cAc>cTc p.H389L RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000318023.7_Missense_Mutation_p.H389L|CAPN3_ENST00000356316.3_Missense_Mutation_p.H302L|CAPN3_ENST00000357568.3_Missense_Mutation_p.H389L|CAPN3_ENST00000349748.3_Missense_Mutation_p.H341L NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 389 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CGTCTGCAGCACCAGGTCACT 0.542000 17 32 0 0 0.557998 0 0 IVL 3713 broad.mit.edu 37 1 152883981 152883981 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:152883981G>A ENST00000368764.3 + 2 1772 c.1708G>A c.(1708-1710)Gag>Aag p.E570K IVL_ENST00000392667.2_Missense_Mutation_p.E424K P07476 INVO_HUMAN involucrin 570 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCTTCCTGTAGAGCACCAGCA 0.567000 7 282 0 0 0.335167 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90502913 90502913 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:90502913C>A ENST00000325643.5 + 4 3577 c.3511C>A c.(3511-3513)Cta>Ata p.L1171I NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 ATGTGCCCTCCTATGGAAGGG 0.622000 13 14 5.50884e-06 6.16195e-06 0.411799 1 0 STMN1 3925 broad.mit.edu 37 1 26227995 26227995 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:26227995C>G ENST00000399728.1 - 4 728 c.365G>C c.(364-366)cGt>cCt p.R122P STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000455785.2_Missense_Mutation_p.R122P|STMN1_ENST00000374291.1_Missense_Mutation_p.R122P|STMN1_ENST00000357865.2_Missense_Mutation_p.R122P|STMN1_ENST00000426559.2_Missense_Mutation_p.R122P NM_203401.1 NP_981946.1 P16949 STMN1_HUMAN stathmin 1 122 cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus cytoplasm|microtubule signal transducer activity|tubulin binding breast(2)|large_intestine(2)|skin(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649) CTCTCGCAAACGTTCCAGTTT 0.418000 35 58 0 0 0.804634 0 0 IFT74 80173 broad.mit.edu 37 9 27016972 27016972 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:27016972C>G ENST00000443698.1 + 11 1028 c.857C>G c.(856-858)tCc>tGc p.S286C IFT74_ENST00000429045.2_Missense_Mutation_p.S286C|IFT74_ENST00000433700.1_Missense_Mutation_p.S286C|IFT74_ENST00000380062.5_Missense_Mutation_p.S286C NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 homolog (Chlamydomonas) 286 cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) GAGTTGGAGTCCCATCGAGAT 0.383000 4 46 0 0 0.184627 0 0 RB1 5925 broad.mit.edu 37 13 48916812 48916812 + Silent SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:48916812G>T ENST00000267163.4 + 3 480 c.342G>T c.(340-342)tcG>tcT p.S114S NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 114 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(5) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGAGATGTCGTTCACTTTTA 0.348000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 29 42 3.73148e-12 4.42476e-12 0.717897 1 0 FN1 2335 broad.mit.edu 37 2 216273069 216273069 + Missense_Mutation SNP A A G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:216273069A>G ENST00000354785.4 - 16 2749 c.2380T>C c.(2380-2382)Tct>Cct p.S794P FN1_ENST00000421182.1_Missense_Mutation_p.S794P|FN1_ENST00000356005.4_Missense_Mutation_p.S794P|FN1_ENST00000443816.1_Missense_Mutation_p.S794P|FN1_ENST00000359671.1_Missense_Mutation_p.S794P|FN1_ENST00000357867.4_Missense_Mutation_p.S794P|FN1_ENST00000446046.1_Missense_Mutation_p.S794P|FN1_ENST00000323926.6_Missense_Mutation_p.S794P|FN1_ENST00000357009.2_Missense_Mutation_p.S794P|FN1_ENST00000345488.5_Missense_Mutation_p.S794P|FN1_ENST00000336916.4_Missense_Mutation_p.S794P|FN1_ENST00000432072.2_Missense_Mutation_p.S794P|FN1_ENST00000346544.3_Missense_Mutation_p.S794P P02751 FINC_HUMAN fibronectin 1 794 Fibronectin type-III 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCATCCTCAGATATCTGATAG 0.403000 19 105 0 0 0.592651 0 0 RBM15 64783 broad.mit.edu 37 1 110888219 110888219 + Silent SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:110888219G>A ENST00000369784.3 + 2 3822 c.2922G>A c.(2920-2922)ctG>ctA p.L974L RBM15_ENST00000487146.2_Intron NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 974 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) ACTTGGCGCTGACCCTGTTAT 0.393000 T MKL1 acute megakaryocytic leukemia 5 206 0 0 0.184627 0 0 TRIL 9865 broad.mit.edu 37 7 28997432 28997432 + RNA SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:28997432G>A ENST00000322982.3 - 0 502 AC005013.5_ENST00000436594.1_lincRNA Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding GGTGGAAGTCGAAGGCCGTGA 0.637000 5 25 0 0 0.217242 0 0 ATXN2 6311 broad.mit.edu 37 12 111923112 111923112 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:111923112C>T ENST00000377617.3 - 18 3122 c.2961G>A c.(2959-2961)acG>acA p.T987T ATXN2_ENST00000550104.1_Intron|ATXN2_ENST00000542287.2_Silent_p.T722T|ATXN2_ENST00000389153.4_Silent_p.T722T|ATXN2_ENST00000535949.1_Silent_p.T698T NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 987 Pro-rich. cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CTGGCATGGGCGTCATAGGTA 0.363000 19 138 0 0 0.557998 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880904 70880904 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:70880904G>T ENST00000333538.5 + 4 1253 c.619G>T c.(619-621)Gtc>Ttc p.V207F WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 207 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGAGGAGTATGTCCACAAACG 0.507000 8 25 1.12685e-05 1.25398e-05 0.307466 1 0 MED23 9439 broad.mit.edu 37 6 131943069 131943069 + Silent SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:131943069A>T ENST00000403834.3 - 6 620 c.447T>A c.(445-447)ccT>ccA p.P149P MED23_ENST00000539158.1_Silent_p.P149P|MED23_ENST00000368058.1_Silent_p.P149P|MED23_ENST00000354577.4_Silent_p.P149P|MED23_ENST00000540546.1_Silent_p.P149P|MED23_ENST00000368060.3_Silent_p.P149P|MED23_ENST00000368068.3_Silent_p.P149P|MED23_ENST00000368053.4_Silent_p.P149P Q9ULK4 MED23_HUMAN mediator complex subunit 23 149 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) TCACTGTATTAGGAATTGTCA 0.368000 14 83 0 0 0.592651 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105010959 105010959 + Missense_Mutation SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrX:105010959T>C ENST00000372582.1 + 11 2122 c.1366T>C c.(1366-1368)Tac>Cac p.Y456H IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.Y61H|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y456H NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 456 TIR. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATTTGTAGCATACATGGAAGA 0.388000 5 17 0 0 0.248553 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6084286 6084286 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:6084286G>A ENST00000199389.6 - 7 783 c.637C>T c.(637-639)Cgg>Tgg p.R213W EIF2AK1_ENST00000536084.1_Missense_Mutation_p.R89W|EIF2AK1_ENST00000495565.1_5'UTR NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 213 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TTCACTTCCCGTAGGACCTAG 0.448000 7 26 0 0 0.278610 0 0 KCNT2 343450 broad.mit.edu 37 1 196300311 196300311 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:196300311G>A ENST00000367433.5 - 18 2179 c.2078C>T c.(2077-2079)cCa>cTa p.P693L KCNT2_ENST00000294725.8_Missense_Mutation_p.P693L|KCNT2_ENST00000367431.4_Missense_Mutation_p.P643L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.P304L Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 693 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GCAGCAAAATGGTACTTTTTC 0.279000 5 257 0 0 0.184627 0 0 RNF103 7844 broad.mit.edu 37 2 86831094 86831094 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:86831094G>A ENST00000237455.4 - 4 2898 c.1930C>T c.(1930-1932)Cat>Tat p.H644Y RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 644 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 CAATTCTGATGAAACACATGA 0.453000 6 218 0 0 0.278610 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121856 117121856 + Missense_Mutation SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:117121856T>C ENST00000310357.3 - 4 1460 c.1439A>G c.(1438-1440)aAg>aGg p.K480R GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.K305R NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 480 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATTGATCTCCTTCCAGAGCAC 0.393000 52 55 0 0 0.870114 0 0 PXDNL 137902 broad.mit.edu 37 8 52321349 52321349 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:52321349C>T ENST00000356297.4 - 17 2935 c.2835G>A c.(2833-2835)gcG>gcA p.A945A PXDNL_ENST00000543296.1_Silent_p.A945A NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 945 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCTCCTGTCGCGCGCACTCGG 0.647000 4 6 0 0 0.217242 0 0 NAMPT 10135 broad.mit.edu 37 7 105903950 105903950 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:105903950G>C ENST00000222553.3 - 7 1164 c.857C>G c.(856-858)gCg>gGg p.A286G NAMPT_ENST00000354289.4_Missense_Mutation_p.A286G NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 286 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity p.A286V(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 TTTCTCACACGCATTATAAAT 0.388000 12 45 0 0 0.387290 0 0 LRP2 4036 broad.mit.edu 37 2 170012818 170012818 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:170012818C>G ENST00000263816.3 - 65 12402 c.12117G>C c.(12115-12117)atG>atC p.M4039I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4039 EGF-like 15; calcium-binding (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.M4039I(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGCGGTCACTCATAGACGTGA 0.433000 21 86 0 0 0.624587 0 0 MYLK 4638 broad.mit.edu 37 3 123345716 123345716 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:123345716C>A ENST00000360772.3 - 31 5412 c.5034G>T c.(5032-5034)aaG>aaT p.K1678N MYLK_ENST00000475616.1_Missense_Mutation_p.K1729N|MYLK_ENST00000360304.3_Missense_Mutation_p.K1729N|MYLK_ENST00000359169.1_Missense_Mutation_p.K1678N|MYLK_ENST00000346322.5_Missense_Mutation_p.K1660N|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.K529N Q15746 MYLK_HUMAN myosin light chain kinase 1729 Protein kinase. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGGAGAGTTTCTTGGCCTCCA 0.488000 19 32 4.59853e-10 5.36495e-10 0.693898 1 0 WBP4 11193 broad.mit.edu 37 13 41636806 41636806 + Missense_Mutation SNP A A G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:41636806A>G ENST00000379487.3 + 2 429 c.29A>G c.(28-30)aAg>aGg p.K10R WBP4_ENST00000542082.1_Missense_Mutation_p.K10R NM_007187.3 NP_009118.1 O75554 WBP4_HUMAN WW domain binding protein 4 10 nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1) 12 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) TCACAGCCAAAGAAATTCTGT 0.378000 6 10 0 0 0.217242 0 0 EIF4E 1977 broad.mit.edu 37 4 99809080 99809080 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:99809080G>C ENST00000450253.2 - 4 1769 c.245C>G c.(244-246)tCt>tGt p.S82C EIF4E_ENST00000505992.1_Missense_Mutation_p.S82C|EIF4E_ENST00000280892.6_Missense_Mutation_p.S102C|EIF4E_ENST00000504432.1_Missense_Mutation_p.S110C NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 82 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) TAAATTACTAGACAACTGGAT 0.289000 3 19 0 0 0.184627 0 0 NALCN 259232 broad.mit.edu 37 13 101890210 101890210 + Nonsense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:101890210C>A ENST00000251127.6 - 12 1411 c.1330G>T c.(1330-1332)Gga>Tga p.G444* NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.G444* NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 444 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CTAATATATCCAGTAAATCCC 0.343000 41 59 1.43246e-33 1.86135e-33 0.834066 1 0 OR14I1 401994 broad.mit.edu 37 1 248845530 248845530 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:248845530C>A ENST00000342623.3 - 1 99 c.76G>T c.(76-78)Gcc>Tcc p.A26S NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 AACAGCCCGGCGTGCAGCACC 0.493000 47 67 3.68337e-26 4.64705e-26 0.870114 1 0 DMPK 1760 broad.mit.edu 37 19 46283080 46283080 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:46283080C>T ENST00000600757.1 - 1 925 c.238G>A c.(238-240)Gac>Aac p.D80N DMPK_ENST00000343373.4_Missense_Mutation_p.D80N|AC011530.4_ENST00000593999.1_3'UTR|DMPK_ENST00000447742.2_Missense_Mutation_p.D70N|DMPK_ENST00000458663.2_Missense_Mutation_p.D70N|DMPK_ENST00000354227.5_Missense_Mutation_p.D70N|DMPK_ENST00000291270.4_Missense_Mutation_p.D70N Q09013 DMPK_HUMAN dystrophia myotonica-protein kinase 80 regulation of heart contraction ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24) ATCTCGAAGTCGTCCCTCTGC 0.642000 3 26 0 0 0.115264 0 0 ARID2 196528 broad.mit.edu 37 12 46254641 46254641 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:46254641C>G ENST00000334344.6 + 16 5003 c.4831C>G c.(4831-4833)Cag>Gag p.Q1611E ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.Q1221E|ARID2_ENST00000457135.1_Missense_Mutation_p.Q219E|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1462E NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1611 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TAACAGTTCTCAGCCTTCTCC 0.463000 """N, S, F""" hepatocellular carcinoma 20 27 0 0 0.592651 0 0 ETS1 2113 broad.mit.edu 37 11 128350260 128350260 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:128350260A>T ENST00000392668.3 - 8 1017 c.949T>A c.(949-951)Tct>Act p.S317T ETS1_ENST00000531611.1_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.S57T|ETS1_ENST00000526145.1_Intron|ETS1_ENST00000345075.4_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.S273T NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 273 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) CTGTTGAAAGATGACTGGCTG 0.552000 22 44 0 0 0.639603 0 0 CPSF6 11052 broad.mit.edu 37 12 69652822 69652822 + Missense_Mutation SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:69652822C>G ENST00000435070.2 + 6 1257 c.1147C>G c.(1147-1149)Cca>Gca p.P383A CPSF6_ENST00000266679.8_Missense_Mutation_p.P420A|CPSF6_ENST00000456847.3_Missense_Mutation_p.P310A|CPSF6_ENST00000551516.1_Intron NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 383 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) ACCAACAGATCCATATGGGCG 0.507000 41 68 0 0 0.853193 0 0 FRMD1 79981 broad.mit.edu 37 6 168461497 168461497 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:168461497G>T ENST00000283309.6 - 9 1350 c.1286C>A c.(1285-1287)cCg>cAg p.P429Q FRMD1_ENST00000440994.2_Missense_Mutation_p.P361Q|FRMD1_ENST00000537786.1_Missense_Mutation_p.P200Q|FRMD1_ENST00000432403.1_5'UTR NM_024919.3 NP_079195.3 Q8N878 FRMD1_HUMAN FERM domain containing 1 429 cytoskeleton binding endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 19 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCTGGAGGACGGCTCCTTCTC 0.642000 3 5 0.00909568 0.00953508 0.150653 1 0 CCDC39 339829 broad.mit.edu 37 3 180378511 180378511 + Silent SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:180378511G>T ENST00000273654.4 - 10 1234 c.615C>A c.(613-615)ggC>ggA p.G205G CCDC39_ENST00000442201.2_Silent_p.G121G Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 121 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTTTAAATATGCCATTCTAAT 0.343000 3 39 0.150653 0.153483 0.150653 1 0 C12orf57 113246 broad.mit.edu 37 12 7053849 7053849 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:7053849G>A ENST00000544681.1 + 2 568 c.263G>A c.(262-264)gGg>gAg p.G88E C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000540506.2_Intron Q99622 C10_HUMAN chromosome 12 open reading frame 57 88 kidney(1)|large_intestine(1) 2 GTCAGACGCGGGAAGGCGGGA 0.647000 OREG0021642 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 0.115264 0 0 SOX5 6660 broad.mit.edu 37 12 23728667 23728667 + Missense_Mutation SNP T T A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:23728667T>A ENST00000546136.1 - 9 1233 c.1231A>T c.(1231-1233)Agt>Tgt p.S411C SOX5_ENST00000451604.2_Missense_Mutation_p.S424C|SOX5_ENST00000309359.1_Missense_Mutation_p.S411C|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000537393.1_Missense_Mutation_p.S389C|SOX5_ENST00000545921.1_Missense_Mutation_p.S414C|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.S38C P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 424 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 CCTGCCCCACTGTTTATTCTC 0.512000 4 81 0 0 0.150653 0 0 GNMT 27232 broad.mit.edu 37 6 42930898 42930898 + Silent SNP C C T rs147746130 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:42930898C>T ENST00000372808.3 + 4 550 c.540C>T c.(538-540)taC>taT p.Y180Y NM_018960.4 NP_061833.1 Q14749 GNMT_HUMAN glycine N-methyltransferase 180 protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process folic acid binding|glycine binding|glycine N-methyltransferase activity kidney(2)|large_intestine(1)|lung(1) 4 Colorectal(47;0.196) all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) ATCGCAACTACGACCACATCC 0.627000 4 42 0 0 0.217242 0 0 ZNF254 9534 broad.mit.edu 37 19 24309364 24309364 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:24309364G>T ENST00000357002.4 + 4 677 c.562G>T c.(562-564)Gtc>Ttc p.V188F ZNF254_ENST00000342944.6_Missense_Mutation_p.V103F NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 188 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TAAAAAACGTGTCAAATTATT 0.269000 19 59 1.10513e-12 1.3323e-12 0.624587 1 0 SHOX 6473 broad.mit.edu 37 X 591647 591647 + Silent SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrX:591647G>C ENST00000381578.1 + 2 706 c.15G>C c.(13-15)acG>acC p.T5T SHOX_ENST00000334060.3_Silent_p.T5T|SHOX_ENST00000554971.1_Silent_p.T5T|SHOX_ENST00000381575.1_Silent_p.T5T NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 5 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAGAGCTCACGGCTTTTGTAT 0.652000 5 6 0 0 0.248553 0 0 TGFBR3 7049 broad.mit.edu 37 1 92184900 92184900 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:92184900G>A ENST00000212355.4 - 10 2000 c.1535C>T c.(1534-1536)tCa>tTa p.S512L TGFBR3_ENST00000525962.1_Missense_Mutation_p.S512L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.S511L NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 512 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) ATCAAGGGCTGACCACCGGGG 0.527000 54 47 0 0 0.870114 0 0 LOC286238 286238 broad.mit.edu 37 9 91262362 91262362 + RNA SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:91262362G>A ENST00000418343.2 - 0 389 ATGACACGCTGGCCAGCCACA 0.438000 29 18 0 0 0.717897 0 0 KIF4B 285643 broad.mit.edu 37 5 154393718 154393718 + Missense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:154393718G>A ENST00000435029.4 + 1 459 c.299G>A c.(298-300)gGt>gAt p.G100D NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 100 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCAATGGGAGGTGCATACACT 0.428000 14 103 0 0 0.520397 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003939 75003939 + Missense_Mutation SNP A A T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrX:75003939A>T ENST00000373359.2 - 1 1140 c.948T>A c.(946-948)aaT>aaA p.N316K NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 316 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGACCAAATCATTTGCCTTAT 0.443000 14 11 0 0 0.479597 0 0 MYH2 4620 broad.mit.edu 37 17 10450895 10450895 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:10450895G>T ENST00000245503.5 - 4 629 c.245C>A c.(244-246)cCt>cAt p.P82H MYH2_ENST00000397183.2_Missense_Mutation_p.P82H|MYH2_ENST00000532183.1_Missense_Mutation_p.P82H|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 82 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATATTTGGGAGGGTTCATGGG 0.438000 45 183 5.18031e-10 6.01138e-10 0.870114 1 0 UGT2A2 574537 broad.mit.edu 37 4 70504819 70504819 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:70504819C>A ENST00000457664.2 - 1 539 c.540G>T c.(538-540)ttG>ttT p.L180F UGT2A1_ENST00000514019.1_Missense_Mutation_p.L381F|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000503640.1_Intron NM_001105677.2 NP_001099147.2 GAGAGAACCTCAATGTGTACA 0.458000 36 42 1.836e-18 2.25092e-18 0.788014 1 0 ZNF623 9831 broad.mit.edu 37 8 144733483 144733483 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:144733483C>T ENST00000501748.2 + 1 1530 c.1441C>T c.(1441-1443)Cat>Tat p.H481Y ZNF623_ENST00000458270.2_Missense_Mutation_p.H441Y|ZNF623_ENST00000526926.1_Missense_Mutation_p.H441Y NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCAGAAAATTCATACTGAAGA 0.393000 132 142 0 0 0.870114 0 0 CNOT6L 246175 broad.mit.edu 37 4 78652605 78652605 + Silent SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:78652605C>A ENST00000504123.1 - 9 1090 c.960G>T c.(958-960)gtG>gtT p.V320V CNOT6L_ENST00000264903.4_Silent_p.V320V Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 320 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 CTTTTGTCATCACTCTGTTCA 0.378000 9 45 4.68919e-08 5.32751e-08 0.361761 1 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 4 79 0 0 0.184627 0 0 FRMPD4 9758 broad.mit.edu 37 X 12736345 12736345 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrX:12736345C>T ENST00000380682.1 + 16 3906 c.3400C>T c.(3400-3402)Cct>Tct p.P1134S NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1134 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 AGAAGGAGCTCCTGATGGAGA 0.507000 71 54 0 0 0.870114 0 0 GPRC6A 222545 broad.mit.edu 37 6 117121855 117121855 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:117121855C>A ENST00000310357.3 - 4 1461 c.1440G>T c.(1438-1440)aaG>aaT p.K480N GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.K305N NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 480 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CATTGATCTCCTTCCAGAGCA 0.388000 54 57 1.38705e-31 1.77053e-31 0.870114 1 0 MT-CO3 4514 broad.mit.edu 37 MT 9882 9882 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrM:9882C>T ENST00000362079.2 + 1 676 c.676C>T c.(676-678)Cac>Tac p.226_226insY mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 AACTAATATTTCACTTTACAT 0.428000 6 412 0 0 0.217242 0 0 FAM178A 55719 broad.mit.edu 37 10 102706855 102706855 + Nonsense_Mutation SNP G G A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:102706855G>A ENST00000238961.3 + 14 3142 c.2994G>A c.(2992-2994)tgG>tgA p.W998* FAM178A_ENST00000370269.3_Nonsense_Mutation_p.W998* NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 998 ACCTCCTGTGGTTGGTACAGC 0.358000 21 75 0 0 0.667858 0 0 PARP16 54956 broad.mit.edu 37 15 65553241 65553241 + Nonsense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:65553241G>C ENST00000261888.6 - 5 1260 c.815C>G c.(814-816)tCa>tGa p.S272* PARP16_ENST00000444347.2_Nonsense_Mutation_p.S157* NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 272 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 TGGCTTCTGTGAATACACCAG 0.507000 4 133 0 0 0.150653 0 0 WDR3 10885 broad.mit.edu 37 1 118492649 118492649 + Missense_Mutation SNP C C A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:118492649C>A ENST00000349139.4 + 15 1689 c.1642C>A c.(1642-1644)Cta>Ata p.L548I NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 548 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) AACTTTGCAACTAGATGAAGA 0.358000 17 209 2.00529e-23 2.50085e-23 0.654019 1 0 RNF17 56163 broad.mit.edu 37 13 25442836 25442836 + Silent SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:25442836C>T ENST00000255324.5 + 31 4312 c.4260C>T c.(4258-4260)caC>caT p.H1420H RNF17_ENST00000339524.3_Silent_p.H430H|RNF17_ENST00000381921.1_Silent_p.H1378H NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1420 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAGTTAAGCACGTTGTCTCAC 0.388000 4 95 0 0 0.184627 0 0 NR2C2 7182 broad.mit.edu 37 3 15057759 15057759 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:15057759C>T ENST00000425241.1 + 4 736 c.374C>T c.(373-375)tCc>tTc p.S125F NR2C2_ENST00000393102.3_Missense_Mutation_p.S125F|NR2C2_ENST00000323373.6_Missense_Mutation_p.S144F|NR2C2_ENST00000406272.2_Missense_Mutation_p.S125F P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 125 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GACAAAGCCTCCGGTATGTAG 0.507000 12 28 0 0 0.479597 0 0 NDST2 8509 broad.mit.edu 37 10 75565704 75565704 + Missense_Mutation SNP C C T rs150846687 byFrequency TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:75565704C>T ENST00000299641.4 - 8 2118 c.1148G>A c.(1147-1149)cGg>cAg p.R383Q NDST2_ENST00000309979.6_Missense_Mutation_p.R506Q NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 506 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) TCGGATGCTCCGGTCTAGTTC 0.522000 13 67 0 0 0.457914 0 0 TRANK1 9881 broad.mit.edu 37 3 36899467 36899467 + Silent SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:36899467G>C ENST00000429976.2 - 12 1861 c.1614C>G c.(1612-1614)ctC>ctG p.L538L TRANK1_ENST00000301807.6_5'UTR|TRANK1_ENST00000428977.2_5'UTR O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 538 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CATTGGGGTTGAGGTAGTCGA 0.493000 16 64 0 0 0.500413 0 0 CHD5 26038 broad.mit.edu 37 1 6196606 6196606 + Silent SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:6196606G>T ENST00000262450.3 - 17 2766 c.2667C>A c.(2665-2667)ctC>ctA p.L889L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 889 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GGAAGTTGAGGAGATGGAACA 0.537000 4 36 1.23904e-05 1.37179e-05 0.184627 1 0 TTC30B 150737 broad.mit.edu 37 2 178415811 178415811 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:178415811C>T ENST00000408939.2 - 1 1931 c.1681G>A c.(1681-1683)Gac>Aac p.D561N NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 561 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) ATACCAAAGTCATAATTTCCT 0.393000 6 191 0 0 0.217242 0 0 SZT2 23334 broad.mit.edu 37 1 43904467 43904467 + Missense_Mutation SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:43904467G>T ENST00000562955.1 + 46 6435 c.6435G>T c.(6433-6435)aaG>aaT p.K2145N SZT2_ENST00000372442.1_Missense_Mutation_p.K1303N|SZT2_ENST00000471177.1_3'UTR NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2202 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GGAACTGCAAGCTGACACCAG 0.567000 5 110 0.0215528 0.0223777 0.217242 1 0 NAV3 89795 broad.mit.edu 37 12 78598805 78598805 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:78598805C>T ENST00000397909.2 + 39 7098 c.6925C>T c.(6925-6927)Cca>Tca p.P2309S NAV3_ENST00000541270.1_Missense_Mutation_p.P139S|NAV3_ENST00000536525.2_Missense_Mutation_p.P2287S|NAV3_ENST00000228327.6_Missense_Mutation_p.P2287S|NAV3_ENST00000266692.7_Missense_Mutation_p.P2110S Q8IVL0 NAV3_HUMAN neuron navigator 3 2309 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCAGGAGAGCCCAGCCTTACT 0.493000 HNSCC(70;0.22) 21 34 0 0 0.575678 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457330 66457330 + RNA SNP G G T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:66457330G>T ENST00000424345.1 + 0 42 cagcgacagagccttggagag 0.632000 5 9 0.0293803 0.0303597 0.248553 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803746 142803746 + RNA SNP A A G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:142803746A>G ENST00000423385.1 - 0 1219 actatggattagagctgatta 0.393000 2 0 0 0 0.115264 0 0 DCX 1641 broad.mit.edu 37 X 110644336 110644336 + Missense_Mutation SNP C C T rs56030372 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chrX:110644336C>T ENST00000338081.3 - 3 1001 c.830G>A c.(829-831)cGt>cAt p.R277H DCX_ENST00000356915.2_Missense_Mutation_p.R196H|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.R196H|DCX_ENST00000371993.2_Missense_Mutation_p.R196H|DCX_ENST00000488120.1_Missense_Mutation_p.R196H NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 277 Doublecortin 2. R -> H (in LISX1; dbSNP:rs56030372).|R -> S (in epilepsy; resistant partial seizures; related to 'cryptogenic' epilepsy). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 CAGAAGCACACGCACAGCCTT 0.532000 18 18 0 0 0.539581 0 0 ATP6V0E1 8992 broad.mit.edu 37 5 172447277 172447277 + Silent SNP C C G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:172447277C>G ENST00000519374.1 + 3 293 c.189C>G c.(187-189)ctC>ctG p.L63L ATP6V0E1_ENST00000519911.1_Intron|ATP6V0E1_ENST00000265093.4_Silent_p.L47L|ATP6V0E1_ENST00000517669.1_Silent_p.L63L NM_003945.3 NP_003936.1 O15342 VA0E1_HUMAN ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1 63 ATP hydrolysis coupled proton transport|cell growth|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport|vacuolar acidification endosome membrane|integral to membrane|membrane fraction|proton-transporting V-type ATPase, V0 domain|vacuole proton-transporting ATPase activity, rotational mechanism lung(2) 2 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCAACCCTCTCTTTGGACCGC 0.433000 45 31 0 0 0.870114 0 0 SMARCA4 6597 broad.mit.edu 37 19 11169030 11169030 + Missense_Mutation SNP G G C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:11169030G>C ENST00000358026.2 + 32 4904 c.4620G>C c.(4618-4620)aaG>aaC p.K1540N SMARCA4_ENST00000344626.4_Missense_Mutation_p.K1508N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K1508N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1478N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K1474N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1478N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K1475N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1477N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1477N NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1508 Bromo. Required for binding to 'Lys-15'- acetylated histone 3. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TGGACTTCAAGAAGATAAAGG 0.617000 """F, N, Mis""" NSCLC 5 8 0 0 0.217242 0 0 CROCCP2 84809 broad.mit.edu 37 1 16960418 16960418 + RNA DEL A A - rs59476808 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:16960418delA ENST00000412962.1 - 0 16 tcagattgggaaaaaaaaaaa 0.453 6 2 --- --- --- --- ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 3 6 --- --- --- --- RP5-1198O20.4 0 broad.mit.edu 37 1 44538882 44538882 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:44538882delT ENST00000434244.1 + 0 930 cttcttcttcttttttttttt 0.438 3 5 --- --- --- --- RP11-191G24.1 0 broad.mit.edu 37 1 52015539 52015540 + RNA INS - - T rs138950220 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:52015539_52015540insT ENST00000426017.1 + 0 64 RP11-191G24.1_ENST00000415031.1_RNA TTAAAAAGGCATTTTTTTTCCA 0.406 5 5 --- --- --- --- RP11-776H12.1 0 broad.mit.edu 37 1 61077803 61077803 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:61077803delA ENST00000439156.2 - 0 336 gtagtctcagaaaatgtttgA 0.383 2 4 --- --- --- --- LOC101926964 101926964 broad.mit.edu 37 1 61224001 61224001 + RNA DEL G G - rs34667384 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:61224001delG ENST00000423403.1 - 0 249 AGGGTTGGAAGGTTACTGAAA 0.408 2 4 --- --- --- --- GNG12-AS1 100289178 broad.mit.edu 37 1 68442771 68442772 + RNA INS - - T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:68442771_68442772insT ENST00000420587.1 + 0 134 GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000414904.1_RNA NR_040077.1 Q6ZVV5 Q6ZVV5_HUMAN AGACTCAGTGATTTTTTTTGGC 0.411 2 4 --- --- --- --- LOC101927244 101927244 broad.mit.edu 37 1 71172636 71172636 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:71172636delG ENST00000419450.1 + 0 79 ttcttatttagggccacgggt 0.512 2 4 --- --- --- --- MGC27382 149047 broad.mit.edu 37 1 78754877 78754878 + RNA INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:78754877_78754878insA ENST00000436742.1 + 0 1342 ATTTAATACTCAAAACAAATAG 0.337 2 4 --- --- --- --- RP5-947P14.1 0 broad.mit.edu 37 1 106621106 106621107 + RNA INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:106621106_106621107insA ENST00000437803.1 + 0 165 tttctcctaccaaaaaaaaaat 0.391 2 4 --- --- --- --- NBPF18P 441908 broad.mit.edu 37 1 152001835 152001836 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:152001835_152001836insC ENST00000432386.1 + 0 2919 NR_103561.1 ttttcgctttgccccccCGGCA 0.510 2 4 --- --- --- --- RP11-306I1.2 0 broad.mit.edu 37 1 165587190 165587190 + RNA DEL G G - rs112121335 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:165587190delG ENST00000452618.1 + 0 315 ctccagaactgtgagcagtaa 0.458 4 4 --- --- --- --- LINC00626 79100 broad.mit.edu 37 1 168760767 168760768 + RNA DEL CA CA - rs72119337 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:168760767_168760768delCA ENST00000420691.1 + 0 399 NR_024160.1 CTATCTTTATcacacacacaca 0.470 4 8 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 168917466 168917469 + RNA DEL GAAA GAAA - rs2900959 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:168917466_168917469delGAAA ENST00000366408.3 - 0 209 ACCTCTGATGGAAAGAGAGTGAAA 0.407 3 5 --- --- --- --- LINC00970 101978719 broad.mit.edu 37 1 168949453 168949459 + RNA DEL CTCTCCC CTCTCCC - rs2984591 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:168949453_168949459delCTCTCCC ENST00000366408.3 - 0 209 catatgcactctctcccctctccttgg 0.483 4 2 --- --- --- --- LOC102724601 102724601 broad.mit.edu 37 1 174104835 174104835 + RNA DEL T T - rs75165126 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:174104835delT ENST00000426899.1 - 0 338 aagttgctcctcctaaaattt 0.388 4 5 --- --- --- --- LINC01344 400799 broad.mit.edu 37 1 182203484 182203487 + RNA DEL AAAC AAAC - rs71958642 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:182203484_182203487delAAAC ENST00000449842.1 - 0 410 ctccttctcaaaacaaacaaacaa 0.436 4 5 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187109043 187109043 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:187109043delT ENST00000458683.1 + 0 105 ggaggctttgtttgtttcttt 0.348 2 4 --- --- --- --- RP1-272L16.1 0 broad.mit.edu 37 1 209708265 209708266 + RNA INS - - T rs111400425 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:209708265_209708266insT ENST00000424696.2 - 0 510 CTCATTCATAGTTTTTTTTTTT 0.337 2 4 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222427460 222427460 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr1:222427460delG ENST00000416510.1 - 0 167 tcttgctggtgcccaaaagcg 0.592 2 4 --- --- --- --- AC099344.2 0 broad.mit.edu 37 2 11499077 11499078 + RNA DEL TT TT - rs59829548 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:11499077_11499078delTT ENST00000430897.1 - 0 539 tctttctttctttttttttttt 0.411 3 3 --- --- --- --- LOC100506457 100506457 broad.mit.edu 37 2 12508919 12508920 + RNA INS - - A rs138761982 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:12508919_12508920insA ENST00000412294.1 + 0 412 GGAATGGCTTGAAAATGAGAAG 0.525 3 4 --- --- --- --- AC008278.2 0 broad.mit.edu 37 2 15708783 15708783 + RNA DEL T T - rs146500001 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:15708783delT ENST00000438178.1 + 0 239 AACCTCCCCCttttttttttt 0.493 2 4 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22727661 22727661 + RNA DEL A A - rs34525150 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:22727661delA ENST00000450551.1 - 0 70 aggaaaagagaaaaaaaattg 0.363 3 3 --- --- --- --- LINC01317 104355287 broad.mit.edu 37 2 34248909 34248909 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:34248909delC ENST00000366209.2 + 0 389 tagcctgagtccctgaaagaa 0.418 2 4 --- --- --- --- SLC8A1-AS1 100128590 broad.mit.edu 37 2 40141569 40141570 + RNA DEL TT TT - rs149623182 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:40141569_40141570delTT ENST00000599740.1 + 0 73 TGTATGACACTTTTTTTTTTTT 0.431 4 1 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60225778 60225779 + RNA INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:60225778_60225779insA ENST00000606382.1 - 0 110 TTATTTTTCAGAAAAAAAAAAA 0.351 2 4 --- --- --- --- LOC644838 644838 broad.mit.edu 37 2 67395985 67395985 + RNA DEL T T - rs71970559 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:67395985delT ENST00000433133.1 - 0 205 AC023115.1_ENST00000594329.1_lincRNA|AC023115.2_ENST00000452716.1_lincRNA NR_038844.1 taatctcctcttttttttttt 0.408 3 3 --- --- --- --- AC084193.1 0 broad.mit.edu 37 2 80996898 80996899 + RNA INS - - TT TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:80996898_80996899insTT ENST00000450290.1 - 0 468 GCACGCTAACATTTTTAAGTGC 0.277 2 4 --- --- --- --- AC006227.1 0 broad.mit.edu 37 2 107887917 107887917 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:107887917delT ENST00000443123.1 - 0 394 gagactttacttttttttttg 0.328 2 4 --- --- --- --- AC012501.2 0 broad.mit.edu 37 2 154413547 154413548 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:154413547_154413548insC ENST00000424322.1 - 0 429 cacaaatttgacccccccttcc 0.376 3 6 --- --- --- --- AC012501.2 0 broad.mit.edu 37 2 154418511 154418512 + RNA INS - - CC rs61709877 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:154418511_154418512insCC ENST00000424322.1 - 0 429 TCACACTTTTGCCCCTTTTCTT 0.366 6 3 --- --- --- --- AC016723.4 0 broad.mit.edu 37 2 168760146 168760147 + RNA DEL AG AG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:168760146_168760147delAG ENST00000436982.2 - 0 36 ACTgagagacagagagagagag 0.416 2 4 --- --- --- --- AC016723.4 0 broad.mit.edu 37 2 168783630 168783630 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:168783630delT ENST00000436982.2 - 0 36 acctttggtgttttttttttt 0.532 3 3 --- --- --- --- AC016751.3 0 broad.mit.edu 37 2 176768229 176768229 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:176768229delG ENST00000453206.1 + 0 151 TTAAATGAAAGGACAGTAGAA 0.363 5 3 --- --- --- --- AC079305.11 0 broad.mit.edu 37 2 178021843 178021843 + RNA DEL A A - rs75195888 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:178021843delA ENST00000441205.1 - 0 169 AC079305.8_ENST00000455416.1_RNA gtctcaaaagaaaaaaaaaaa 0.517 2 4 --- --- --- --- LOC101927865 101927865 broad.mit.edu 37 2 208086822 208086823 + RNA INS - - A rs71036908 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:208086822_208086823insA ENST00000448786.1 - 0 665 AC007879.1_ENST00000435643.1_lincRNA ACACTTTCCACAAAAAAAGAAA 0.450 3 5 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208115341 208115342 + RNA INS - - T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:208115341_208115342insT ENST00000432413.2 - 0 64 AC007879.5_ENST00000412387.1_RNA GAAAATATGACTTTTTTTTACT 0.287 2 4 --- --- --- --- AC007879.5 0 broad.mit.edu 37 2 208333078 208333079 + RNA DEL AC AC - rs111616590 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:208333078_208333079delAC ENST00000418850.1 - 0 256 AC007879.5_ENST00000412387.1_RNA ctctgccaagacacacacacac 0.550 2 4 --- --- --- --- AC007563.5 0 broad.mit.edu 37 2 217684791 217684791 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:217684791delG ENST00000447289.1 + 0 510 GTGGGGGTGTGGGGTGGGCAG 0.547 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221351707 221351708 + RNA DEL AG AG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr2:221351707_221351708delAG ENST00000414512.1 + 0 368 agacagagacagagagagagag 0.436 4 4 --- --- --- --- LINC01266 101927215 broad.mit.edu 37 3 701165 701166 + RNA INS - - AGACAC rs2729263 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:701165_701166insAGACAC ENST00000420823.1 + 0 176 TGCTATTTTTGacacacacaca 0.401 4 3 --- --- --- --- AC027119.1 0 broad.mit.edu 37 3 6125262 6125263 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:6125262_6125263insC ENST00000425894.1 + 0 322 TTTTCTGACCACCCCCCCATCA 0.431 2 4 --- --- --- --- LMCD1-AS1 100288428 broad.mit.edu 37 3 8206105 8206106 + RNA DEL AC AC - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:8206105_8206106delAC ENST00000446281.1 - 0 514 tgaacacctgacacacacacac 0.371 3 3 --- --- --- --- EMC3-AS1 442075 broad.mit.edu 37 3 10031713 10031713 + RNA DEL T T - rs75974954 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:10031713delT ENST00000326237.3 + 0 354 GTGttttctcttttttttttg 0.438 2 4 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18557906 18557906 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:18557906delT ENST00000593741.1 + 0 234 AC144521.1_ENST00000598498.1_RNA|AC144521.1_ENST00000456253.2_RNA|AC144521.1_ENST00000595865.1_RNA|AC144521.1_ENST00000595250.1_RNA|AC144521.1_ENST00000599762.1_RNA|AC144521.1_ENST00000593444.1_RNA|AC144521.1_ENST00000595388.1_RNA|AC144521.1_ENST00000414198.1_RNA|AC144521.1_ENST00000596307.1_RNA|AC144521.1_ENST00000596277.1_RNA|AC144521.1_ENST00000598740.1_RNA|AC144521.1_ENST00000598390.1_RNA|AC144521.1_ENST00000598688.1_RNA|AC144521.1_ENST00000596850.1_RNA catcacaagattatatccctc 0.542 2 4 --- --- --- --- AC133680.1 0 broad.mit.edu 37 3 24771639 24771639 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:24771639delT ENST00000455576.1 + 0 77 aggcaagccatttcatgcttc 0.333 2 4 --- --- --- --- LINC00693 645206 broad.mit.edu 37 3 28743882 28743882 + RNA DEL T T - rs34860168 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:28743882delT ENST00000432518.2 + 0 809 LINC00693_ENST00000443912.1_RNA|LINC00693_ENST00000445077.1_RNA NR_038840.1 TGTATCACACttttttttttt 0.448 3 4 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38770107 38770107 + Frame_Shift_Del DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:38770107delC ENST00000449082.2 - 15 2565 c.2566delG c.(2566-2568)ccfs p.A856fs NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 856 sensory perception voltage-gated sodium channel complex p.A856S(2) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCCATGCAGGCCCACATGTTC 0.542 32 56 --- --- --- --- LINC01471 101927149 broad.mit.edu 37 3 127201092 127201092 + RNA DEL A A - rs79869690 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:127201092delA ENST00000461398.2 - 0 2354 actccgtctcaaaaaaaaaaa 0.443 2 4 --- --- --- --- RP11-93K22.6 0 broad.mit.edu 37 3 129684110 129684117 + RNA DEL TTTTTTTT TTTTTTTT - rs143027909 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:129684110_129684117delTTTTTTTT ENST00000509201.1 - 0 200 agtcattccctttttttttttttttttt 0.433 2 4 --- --- --- --- PAQR9-AS1 101927832 broad.mit.edu 37 3 142708840 142708840 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:142708840delT ENST00000595248.1 + 0 140 RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA gtttcttttcttttttttttt 0.418 3 5 --- --- --- --- AADACL2-AS1 101928142 broad.mit.edu 37 3 151517411 151517411 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:151517411delA ENST00000483843.2 - 0 439 RP11-454C18.2_ENST00000475855.1_RNA|RP11-64D22.5_ENST00000485020.1_lincRNA AGCTGAAAGGAAATTCTTCCC 0.368 2 4 --- --- --- --- RP11-439C8.1 0 broad.mit.edu 37 3 154570838 154570839 + RNA INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:154570838_154570839insA ENST00000478814.1 - 0 226 TGGTAACTAACAAAAATGTTAA 0.342 2 4 --- --- --- --- LINC00578 100505566 broad.mit.edu 37 3 177408204 177408208 + RNA DEL AAAAC AAAAC - rs56958874 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr3:177408204_177408208delAAAAC ENST00000442937.1 + 0 428 RP11-114M1.1_ENST00000423466.2_lincRNA NR_047568.1 GGAGCAAACTaaaacaaaacaaaac 0.356 2 4 --- --- --- --- LINC01085 152742 broad.mit.edu 37 4 14129355 14129355 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:14129355delA ENST00000502759.1 + 0 392 NR_033931.1 ACCAGATATTAAGGGGCTTAT 0.498 2 4 --- --- --- --- RP11-685F15.1 0 broad.mit.edu 37 4 58467334 58467334 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:58467334delT ENST00000509641.2 - 0 207 TGTAAAGGTGTTTTTTTTTTG 0.353 3 4 --- --- --- --- UBA6-AS1 550112 broad.mit.edu 37 4 68669947 68669948 + RNA DEL TG TG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:68669947_68669948delTG ENST00000500538.2 + 0 1905 tgtgtgtatttgtgtgtgtgtg 0.450 2 4 --- --- --- --- RP11-703G6.1 0 broad.mit.edu 37 4 104891231 104891232 + RNA DEL TA TA - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:104891231_104891232delTA ENST00000510505.1 + 0 63 TCAGAAAAAGTATGTTGGAGTT 0.302 2 4 --- --- --- --- RP11-703G6.1 0 broad.mit.edu 37 4 104926869 104926870 + RNA INS - - G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:104926869_104926870insG ENST00000510505.1 + 0 180 TGAAAATGGCAGGAATTTTAAA 0.347 2 4 --- --- --- --- AC108056.1 0 broad.mit.edu 37 4 118781041 118781042 + RNA INS - - C rs60842861 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:118781041_118781042insC ENST00000442020.1 + 0 86 aacctaattttttttttttttt 0.436 3 4 --- --- --- --- RP11-153M7.3 0 broad.mit.edu 37 4 154567112 154567113 + RNA INS - - G rs60735082 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:154567112_154567113insG ENST00000602666.1 + 0 355 TTTTCTGGGGAGGGGGGGTACT 0.386 2 4 --- --- --- --- LOC100506085 100506085 broad.mit.edu 37 4 170889145 170889146 + RNA INS - - T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:170889145_170889146insT ENST00000508313.1 - 0 87 NR_037878.1 tactgatttccttttttggata 0.381 2 4 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190797948 190797949 + RNA INS - - G rs113816091 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:190797948_190797949insG ENST00000511785.1 - 0 231 TTGATATGTTTGAGAGTGAGGT 0.495 3 5 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190808280 190808280 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr4:190808280delC ENST00000511785.1 - 0 231 GAAAGGCAGGCTTAGCCAAGT 0.428 7 5 --- --- --- --- CTD-2287N17.1 0 broad.mit.edu 37 5 4013381 4013382 + RNA INS - - C rs35342350 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:4013381_4013382insC ENST00000513859.1 - 0 275 AAAGACAGCAGCCCCCTCCCTC 0.663 10 16 --- --- --- --- RP11-445O3.2 0 broad.mit.edu 37 5 4586024 4586025 + RNA DEL AC AC - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:4586024_4586025delAC ENST00000507435.1 - 0 429 atgcatgcaaacacacacacac 0.411 3 4 --- --- --- --- LINC01020 340094 broad.mit.edu 37 5 5047962 5047962 + RNA DEL C C - rs11320899 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:5047962delC ENST00000508201.1 + 0 308 CTD-2247C11.4_ENST00000511514.1_lincRNA TGTTTTCAAGCCTCCATTGCA 0.343 4 3 --- --- --- --- RP11-122F24.1 0 broad.mit.edu 37 5 6988595 6988602 + RNA DEL GTGTGTGT GTGTGTGT - rs71736379 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:6988595_6988602delGTGTGTGT ENST00000512838.1 + 0 69 acacacacacgtgtgtgtgtgtgtgtgt 0.433 4 1 --- --- --- --- LOC729506 729506 broad.mit.edu 37 5 8419164 8419165 + RNA DEL CA CA - rs55748425 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:8419164_8419165delCA ENST00000501071.1 - 0 168 RP11-480D4.2_ENST00000512406.1_lincRNA NR_039984.1 aacccccccccaaaaaaaaaaa 0.495 2 4 --- --- --- --- LOC285692 285692 broad.mit.edu 37 5 9858490 9858490 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:9858490delC ENST00000511616.1 - 0 521 RP11-447B18.1_ENST00000508097.1_lincRNA NR_027112.2 tctctcctttccccaagtgaa 0.522 2 4 --- --- --- --- LOC102723526 102723526 broad.mit.edu 37 5 17463670 17463670 + RNA DEL G G - rs58919162 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:17463670delG ENST00000504998.1 + 0 225 gtgcttctctgggggggaacc 0.562 4 2 --- --- --- --- RP11-774D14.1 0 broad.mit.edu 37 5 20737962 20737962 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:20737962delA ENST00000502427.1 + 0 395 AAGCACAAAGAAAAAAAAAAG 0.308 2 4 --- --- --- --- CTD-2066L21.3 0 broad.mit.edu 37 5 33217955 33217955 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:33217955delA ENST00000510327.1 - 0 346 TTACTCTCCTAAAAAAAAAAA 0.333 2 4 --- --- --- --- CTD-2194L12.2 0 broad.mit.edu 37 5 37914133 37914134 + RNA INS - - T rs150600092 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:37914133_37914134insT ENST00000513673.1 - 0 234 ATTTTCTGGGCTTTTTTTTTTT 0.450 2 4 --- --- --- --- LINC01265 101926904 broad.mit.edu 37 5 38719506 38719507 + RNA DEL GT GT - rs111374163 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:38719506_38719507delGT ENST00000506463.1 - 0 89 GCCTCATtgcgtgtgtgtgtgt 0.401 3 3 --- --- --- --- CTD-2023N9.1 0 broad.mit.edu 37 5 56744210 56744211 + RNA INS - - T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:56744210_56744211insT ENST00000506106.1 + 0 119 TTAAAAAGCCATTTTTTTTCCC 0.495 2 4 --- --- --- --- CTD-2275D24.1 0 broad.mit.edu 37 5 73628995 73628996 + RNA INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:73628995_73628996insA ENST00000512458.1 + 0 227 CTD-2275D24.3_ENST00000506612.1_lincRNA atttgccatTTAAAAATTAGAC 0.386 2 4 --- --- --- --- CTD-2503O16.4 0 broad.mit.edu 37 5 74250811 74250811 + RNA DEL A A - rs13156811 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:74250811delA ENST00000505200.1 - 0 335 aaagaaaaagaaaaaaaaaTG 0.418 2 4 --- --- --- --- LOC102546226 102546226 broad.mit.edu 37 5 87733222 87733222 + RNA DEL T T - rs74956633 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:87733222delT ENST00000506041.2 - 0 106 CTC-498M16.4_ENST00000504034.2_lincRNA ATGTCACGGATTTTTTTTTTT 0.373 3 3 --- --- --- --- RP11-116A1.1 0 broad.mit.edu 37 5 88961553 88961556 + RNA DEL TATC TATC - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:88961553_88961556delTATC ENST00000503691.1 + 0 168 atctgtctattatctatctatcta 0.328 2 4 --- --- --- --- NR2F1-AS1 441094 broad.mit.edu 37 5 92757073 92757074 + RNA DEL AA AA - rs34159028 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:92757073_92757074delAA ENST00000607797.1 - 0 1229 NR2F1-AS1_ENST00000606739.1_RNA|NR2F1-AS1_ENST00000606165.1_RNA|NR2F1-AS1_ENST00000510254.1_RNA|NR2F1-AS1_ENST00000607195.1_RNA|NR2F1-AS1_ENST00000607112.1_RNA|NR2F1-AS1_ENST00000606233.1_RNA|NR2F1-AS1_ENST00000607831.1_RNA|NR2F1-AS1_ENST00000606188.1_RNA NR_015369.1 CTTTTGAGTTAAAAAAAAAAAA 0.351 2 4 --- --- --- --- RP11-254I22.1 0 broad.mit.edu 37 5 95472074 95472075 + RNA INS - - T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:95472074_95472075insT ENST00000507997.1 + 0 159 CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA gttttgttttgtttttgagcac 0.406 2 4 --- --- --- --- LOC101927379 101927379 broad.mit.edu 37 5 122034411 122034411 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:122034411delA ENST00000511194.1 - 0 749 ctgtctcgagaaaaaaaaaaa 0.388 2 4 --- --- --- --- CTB-57H20.1 0 broad.mit.edu 37 5 143102968 143102968 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:143102968delT ENST00000503323.1 + 0 379 tgtttgaatgttttttatttc 0.403 2 4 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151554637 151554638 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:151554637_151554638insC ENST00000524295.1 + 0 199 cccttccctagccccccaccct 0.465 2 4 --- --- --- --- CTB-11I22.1 0 broad.mit.edu 37 5 158644321 158644322 + RNA INS - - C rs143588247 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:158644321_158644322insC ENST00000521204.1 + 0 191 agagtctctgaccccaagacct 0.450 2 4 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162843179 162843180 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:162843179_162843180insC ENST00000503504.1 - 0 355 RP11-541P9.3_ENST00000458002.2_RNA CCTTGCTTTTTCCCCCCAGTAC 0.361 2 4 --- --- --- --- LINC01411 101928176 broad.mit.edu 37 5 173808289 173808290 + RNA DEL GT GT - rs33932378 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr5:173808289_173808290delGT ENST00000510234.1 + 0 82 TTCAGTAGGGgtgtgtgtgtgt 0.480 4 7 --- --- --- --- GMDS-AS1 100508120 broad.mit.edu 37 6 2402912 2402913 + RNA DEL AA AA - rs79691267 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:2402912_2402913delAA ENST00000505870.1 + 0 7405 actctgtctcaaaaaaaaaaaa 0.411 2 4 --- --- --- --- LY86-AS1 285780 broad.mit.edu 37 6 6423743 6423743 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:6423743delA ENST00000435641.1 - 0 639 LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000447858.1_RNA cttctcctccaaaaacttggg 0.537 2 4 --- --- --- --- ZNRD1-AS1 80862 broad.mit.edu 37 6 30022667 30022668 + RNA INS - - A rs34274514 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:30022667_30022668insA ENST00000431012.1 - 0 3003_3004 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000422224.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA GAAAAAAGACCAAAAAAAAAAC 0.317 4 5 --- --- --- --- HCG20 414774 broad.mit.edu 37 6 30735656 30735656 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:30735656delT ENST00000439406.1 + 0 127 catgaactgcttttttttttt 0.507 2 4 --- --- --- --- RP11-631F7.2 0 broad.mit.edu 37 6 148457920 148457921 + RNA DEL CA CA - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:148457920_148457921delCA ENST00000417838.1 - 0 96 GTCCCATGAGCACACACACACA 0.475 3 6 --- --- --- --- RP1-249F5.3 0 broad.mit.edu 37 6 160322886 160322886 + RNA DEL A A - rs35452379 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:160322886delA ENST00000434562.1 + 0 207 ccctatctctaaaaaaaaaaa 0.388 3 4 --- --- --- --- RP11-347L18.1 0 broad.mit.edu 37 6 164769216 164769217 + RNA INS - - CA rs71023270 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr6:164769216_164769217insCA ENST00000434356.1 - 0 345 ccacagacacgcacacacacac 0.436 6 5 --- --- --- --- AC004485.3 0 broad.mit.edu 37 7 24252575 24252575 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:24252575delG ENST00000439839.1 - 0 159 GAGAAGACTTggggggctggt 0.463 2 4 --- --- --- --- AC004009.3 0 broad.mit.edu 37 7 27446565 27446566 + RNA INS - - GATGT rs149252430 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:27446565_27446566insGATGT ENST00000412413.1 + 0 399 aggagtccagggagcagcctct 0.550 2 4 --- --- --- --- NPSR1-AS1 404744 broad.mit.edu 37 7 34529296 34529296 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:34529296delG ENST00000419766.1 - 0 310 NR_033664.1|NR_033665.1 ccttaaagcaggggggtgggt 0.423 2 4 --- --- --- --- AC004901.1 0 broad.mit.edu 37 7 47062444 47062445 + RNA INS - - A rs112640301 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:47062444_47062445insA ENST00000433337.1 - 0 237 AC004870.3_ENST00000412996.1_RNA TCTTGTCCCTTACGTCCCCAGG 0.485 7 7 --- --- --- --- RP5-945F2.2 0 broad.mit.edu 37 7 67568994 67568995 + RNA INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:67568994_67568995insA ENST00000424888.2 + 0 103 agaaggtcagcaaaaaacgtga 0.386 2 4 --- --- --- --- RP5-945F2.3 0 broad.mit.edu 37 7 67733006 67733007 + RNA DEL AG AG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:67733006_67733007delAG ENST00000446187.1 - 0 179 ttgtatttttagtagagacggg 0.535 2 4 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72233924 72233924 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:72233924delC ENST00000438125.1 - 0 577 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity TTGAATTTTGCAAACCACCTC 0.363 4 6 --- --- --- --- RP11-560I19.1 0 broad.mit.edu 37 7 121858099 121858100 + RNA INS - - G rs150662047 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:121858099_121858100insG ENST00000446053.1 + 0 176 aaatggggagtgggggggtggg 0.455 4 7 --- --- --- --- TAS2R40 259286 broad.mit.edu 37 7 142919176 142919177 + Frame_Shift_Ins INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr7:142919176_142919177insA ENST00000408947.3 + 1 47_48 c.5_6insA c.(4-6)gacfs p.D2fs AC073342.1_ENST00000595842.1_Frame_Shift_Ins_p.P62fs NM_176882.1 NP_795363.1 P59535 T2R40_HUMAN taste receptor, type 2, member 40 2 sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 Melanoma(164;0.059) AAGAGAATGGCAACGGTGAACA 0.470 36 147 --- --- --- --- RP11-108E14.1 0 broad.mit.edu 37 8 20527650 20527651 + RNA INS - - G rs149726441 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:20527650_20527651insG ENST00000517706.1 - 0 195 AGAGCTGGTGAGGGGGTGTCAT 0.490 3 3 --- --- --- --- RP11-624C23.1 0 broad.mit.edu 37 8 24552858 24552858 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:24552858delT ENST00000519689.1 - 0 184 ggaggattgcttgaatttggg 0.428 2 4 --- --- --- --- RP11-624C23.1 0 broad.mit.edu 37 8 24663877 24663878 + RNA INS - - G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:24663877_24663878insG ENST00000519689.1 - 0 184 CTTTCTTTTTTGGGGAAAGCAA 0.366 2 4 --- --- --- --- RP11-11N9.4 0 broad.mit.edu 37 8 32894675 32894676 + RNA INS - - T rs5890698 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:32894675_32894676insT ENST00000500843.2 + 0 139 TGTGGCCCTGCTTTTCATCCTT 0.391 2 4 --- --- --- --- LOC100507420 100507420 broad.mit.edu 37 8 37337223 37337223 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:37337223delG ENST00000522718.1 - 0 476 CAGGACAGGTGGGGAACAGTC 0.582 2 4 --- --- --- --- RP11-150O12.4 0 broad.mit.edu 37 8 37479619 37479620 + RNA INS - - T rs71839475 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:37479619_37479620insT ENST00000517714.1 - 0 135 ttttcttttggttttttttttt 0.446 4 2 --- --- --- --- RP11-120I21.2 0 broad.mit.edu 37 8 85034983 85034983 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:85034983delG ENST00000523678.1 + 0 279 GCAAGTGGGTGGAGGCAGACC 0.368 2 4 --- --- --- --- RP11-586K2.1 0 broad.mit.edu 37 8 89372032 89372032 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:89372032delG ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA aactgcatctggtgacggcat 0.413 2 4 --- --- --- --- FLJ46284 441369 broad.mit.edu 37 8 93881662 93881662 + RNA DEL A A - rs78484749 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:93881662delA ENST00000504861.2 - 0 55 NR_046114.1 actctgtctcaaaaaaaaaaa 0.448 2 4 --- --- --- --- KB-173C10.2 0 broad.mit.edu 37 8 101411779 101411784 + RNA DEL ACACAC ACACAC - rs72185197 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:101411779_101411784delACACAC ENST00000519844.1 - 0 132 caacacacaaacacacacacacacac 0.461 2 4 --- --- --- --- LINC01591 286094 broad.mit.edu 37 8 136252677 136252677 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:136252677delT ENST00000522279.1 + 0 384 NR_026706.1 gattctgagattagcaggtga 0.448 2 4 --- --- --- --- RP11-149P24.1 0 broad.mit.edu 37 8 137067374 137067375 + RNA INS - - A rs145055640 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr8:137067374_137067375insA ENST00000523150.1 + 0 159 acaaaaaatgcaaaaaaaaaaa 0.455 4 4 --- --- --- --- MIR31HG 554202 broad.mit.edu 37 9 21516477 21516477 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:21516477delG ENST00000304425.3 - 0 181 NR_027054.1 AAGGGAAGGTGGGGGATGAGG 0.358 5 5 --- --- --- --- B4GALT1-AS1 101929639 broad.mit.edu 37 9 33176639 33176639 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:33176639delG ENST00000442432.1 + 0 72 RP11-326F20.5_ENST00000426270.1_RNA accgataagtgggagctagac 0.478 2 4 --- --- --- --- LOC100506834 100506834 broad.mit.edu 37 9 89592990 89592990 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:89592990delG ENST00000415801.1 + 0 428 NR_049794.1 AACACAACTTGTTCATCAGCC 0.453 2 4 --- --- --- --- RP11-308N19.1 0 broad.mit.edu 37 9 109111255 109111255 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:109111255delG ENST00000435485.1 + 0 171 atgcctttgtggactcatagc 0.418 2 4 --- --- --- --- RP11-18B16.2 0 broad.mit.edu 37 9 116415482 116415483 + RNA DEL AG AG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr9:116415482_116415483delAG ENST00000428292.1 + 0 273 gaagagaaatagagagagagag 0.441 2 4 --- --- --- --- RP11-672F9.1 0 broad.mit.edu 37 10 38560862 38560863 + RNA DEL AA AA - rs60895253 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:38560862_38560863delAA ENST00000450980.1 + 0 144 cgaaaaaaagaaaaaaaaaaaa 0.485 4 4 --- --- --- --- RP11-672F9.1 0 broad.mit.edu 37 10 38584590 38584592 + RNA DEL TGT TGT - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:38584590_38584592delTGT ENST00000450980.1 + 0 144 CTGAAACTTATGTTGTCCATTGC 0.394 3 4 --- --- --- --- TMEM72-AS1 220980 broad.mit.edu 37 10 45399946 45399947 + RNA INS - - A rs147150139 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:45399946_45399947insA ENST00000450287.2 - 0 244 RP11-285G1.2_ENST00000436877.2_RNA NR_033842.1 gactccatcttaaaaaaaaaaa 0.520 2 4 --- --- --- --- ANTXRLP1 100996567 broad.mit.edu 37 10 47628695 47628695 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:47628695delA ENST00000454837.1 - 0 291 NR_103827.1 ctgaaatgataacaatttttt 0.373 2 4 --- --- --- --- RP11-556E13.1 0 broad.mit.edu 37 10 54411862 54411862 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:54411862delT ENST00000443523.1 - 0 100 TTGTTTGGGATTTTTTTTTTT 0.313 3 4 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65446695 65446696 + RNA INS - - T rs139899281 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr10:65446695_65446696insT ENST00000444770.1 + 0 494 CAATAAGCTGATTTTTTTTTGT 0.361 4 2 --- --- --- --- DHCR7 1717 broad.mit.edu 37 11 71160015 71160016 + RNA INS - - G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:71160015_71160016insG ENST00000529369.1 + 0 212 cctgcttattaggggggcacac 0.634 2 4 --- --- --- --- RP11-867G2.8 0 broad.mit.edu 37 11 94435895 94435895 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:94435895delC ENST00000536540.1 - 0 52 RP11-867G2.8_ENST00000537874.1_RNA aggggaggagccacacacttt 0.483 2 4 --- --- --- --- RP11-563P16.1 0 broad.mit.edu 37 11 103547033 103547034 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:103547033_103547034insC ENST00000533459.1 - 0 381 aagttactccaccccctaagga 0.406 2 4 --- --- --- --- LINC00900 283143 broad.mit.edu 37 11 115627844 115627844 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:115627844delC ENST00000499809.1 - 0 443 AP000797.3_ENST00000539305.1_lincRNA NR_034148.1 TTCCATTTTTCCCCTGTGTCT 0.433 2 4 --- --- --- --- RP11-820L6.1 0 broad.mit.edu 37 11 122160021 122160021 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:122160021delT ENST00000527474.1 - 0 898 GTGGTACTCAttttttttgtt 0.463 2 4 --- --- --- --- RP11-264E20.1 0 broad.mit.edu 37 11 128488223 128488223 + RNA DEL A A - rs74402575 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr11:128488223delA ENST00000531784.1 - 0 173 GCTCAACATGAAAAAAAAAAA 0.458 3 4 --- --- --- --- LINC00937 389634 broad.mit.edu 37 12 8476433 8476433 + RNA DEL T T - rs57375584 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:8476433delT ENST00000544461.1 - 0 1081 RP11-113C12.4_ENST00000537764.1_RNA|RP11-90D4.3_ENST00000535746.1_lincRNA tttataacagttttttttttt 0.423 3 3 --- --- --- --- LINC00937 389634 broad.mit.edu 37 12 8514372 8514373 + RNA INS - - T rs112127899 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:8514372_8514373insT ENST00000544461.1 - 0 1081 RP11-113C12.4_ENST00000537764.1_RNA AACACAAAACATTTCATGAGTA 0.386 5 2 --- --- --- --- RP11-630C16.2 0 broad.mit.edu 37 12 42226576 42226577 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:42226576_42226577insC ENST00000550874.1 - 0 471 TTCCAGTACCTCCCCCTCACTG 0.485 2 4 --- --- --- --- PLEKHA8P1 51054 broad.mit.edu 37 12 45607955 45607956 + RNA INS - - A TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:45607955_45607956insA ENST00000256692.5 - 0 67 NR_037144.1 breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAAGTGATCTGAAAAAAAAATG 0.391 2 4 --- --- --- --- RP11-493L12.5 0 broad.mit.edu 37 12 47756194 47756194 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:47756194delT ENST00000550019.1 + 0 129 ggCCTCAGCATTTTTTTTTTT 0.398 3 3 --- --- --- --- RP11-110A12.2 0 broad.mit.edu 37 12 55975440 55975440 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:55975440delC ENST00000556750.1 - 0 57 RP11-110A12.2_ENST00000555138.1_RNA ctccagtaggccccagtgtat 0.433 2 4 --- --- --- --- RP11-123O10.4 0 broad.mit.edu 37 12 67390149 67390149 + RNA DEL A A - rs11297691 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:67390149delA ENST00000535721.1 - 0 113 TTTCACAATTAAAAAAAAAAA 0.363 3 4 --- --- --- --- RP11-754N21.1 0 broad.mit.edu 37 12 78847975 78847976 + RNA DEL AA AA - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:78847975_78847976delAA ENST00000548963.1 + 0 245 RP11-171L9.1_ENST00000546865.1_lincRNA GTAGAAACTTAAAAAATGAAAG 0.312 2 4 --- --- --- --- RP11-541G9.1 0 broad.mit.edu 37 12 97450388 97450388 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:97450388delT ENST00000552238.1 + 0 39 atgtttaatcttttttttttt 0.353 3 4 --- --- --- --- RP11-148B3.2 0 broad.mit.edu 37 12 116823081 116823082 + RNA INS - - T rs112282059 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr12:116823081_116823082insT ENST00000548506.1 + 0 403 ttattattATCTTTTTTTTTTT 0.411 2 4 --- --- --- --- LINC00539 100652865 broad.mit.edu 37 13 21909560 21909560 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:21909560delA ENST00000434601.2 - 0 388 NR_103840.1 actccgtctcaaaaaaaaaaa 0.493 2 4 --- --- --- --- POSTN 10631 broad.mit.edu 37 13 38172778 38172778 + Frame_Shift_Del DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:38172778delA ENST00000379747.4 - 1 203 c.86delT c.(85-87)tgfs p.L29fs POSTN_ENST00000379742.4_Frame_Shift_Del_p.L29fs|POSTN_ENST00000541481.1_Frame_Shift_Del_p.L29fs|POSTN_ENST00000379743.4_Frame_Shift_Del_p.L29fs|POSTN_ENST00000379749.4_Frame_Shift_Del_p.L29fs|POSTN_ENST00000541179.1_Frame_Shift_Del_p.L29fs NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 29 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACTATGAGCCAAGATCTTGTC 0.393 24 63 --- --- --- --- LINC00598 646982 broad.mit.edu 37 13 41033203 41033218 + RNA DEL AGGGAGAGAGGGAGGG AGGGAGAGAGGGAGGG - rs11268012 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:41033203_41033218delAGGGAGAGAGGGAGGG ENST00000400430.2 - 0 492 GAAAAAAGAAagggagagagggagggagggagagag 0.444 4 3 --- --- --- --- RP11-321C24.1 0 broad.mit.edu 37 13 45656443 45656443 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:45656443delA ENST00000437748.2 - 0 88 actccgtttcaaaaaaaaaaa 0.517 2 4 --- --- --- --- LINC00348 100885781 broad.mit.edu 37 13 71740516 71740516 + RNA DEL A A - rs75210819 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:71740516delA ENST00000428761.1 + 0 159 NR_047699.1 GTTGTACATCAAAAGCCTTAG 0.368 2 4 --- --- --- --- LINC00351 100874137 broad.mit.edu 37 13 85992874 85992874 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:85992874delT ENST00000424926.2 + 0 495 NR_046989.1 GTACAACACATTTATGCTTCA 0.303 2 4 --- --- --- --- LINC00559 100874187 broad.mit.edu 37 13 90766650 90766651 + RNA INS - - A rs150414814 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:90766650_90766651insA ENST00000569476.1 - 0 947 NR_047489.1 TGGTCAGCCACAAAAAAGCTCC 0.396 3 4 --- --- --- --- LINC00559 100874187 broad.mit.edu 37 13 90768909 90768917 + RNA DEL TGTAGTATC TGTAGTATC - rs67939991 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:90768909_90768917delTGTAGTATC ENST00000569476.1 - 0 947 NR_047489.1 CCTAATCATTTGTAGTATCTGTAGTATCT 0.378 3 4 --- --- --- --- NALCN-AS1 100885778 broad.mit.edu 37 13 101586704 101586705 + RNA INS - - G rs34877626 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr13:101586704_101586705insG ENST00000457843.1 + 0 141 NR_047687.1 AAAAAAAACAAGGGGGGGGGTA 0.356 5 2 --- --- --- --- CTD-2058B24.2 0 broad.mit.edu 37 14 38644028 38644028 + RNA DEL C C - rs35450824 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:38644028delC ENST00000554687.1 - 0 140 aaactacagtcccttgattct 0.413 3 4 --- --- --- --- RP11-313C4.1 0 broad.mit.edu 37 14 42732985 42732986 + RNA INS - - T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:42732985_42732986insT ENST00000555362.1 - 0 95 gttttctagtgtttttttgata 0.312 2 4 --- --- --- --- CTD-2307P3.1 0 broad.mit.edu 37 14 43055562 43055562 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:43055562delA ENST00000557251.1 + 0 166 ACAAGAAAATAAATGCAATTT 0.378 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44519362 44519363 + RNA INS - - A rs147693497 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:44519362_44519363insA ENST00000553827.1 - 0 69 TCTAGAGAAAGAAAAAAAAACT 0.322 4 2 --- --- --- --- RP11-857B24.1 0 broad.mit.edu 37 14 45359444 45359444 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:45359444delA ENST00000554389.1 - 0 66 ctcctcctataacctgttgat 0.443 2 4 --- --- --- --- RP11-1033H12.1 0 broad.mit.edu 37 14 52592541 52592542 + RNA INS - - T rs146187536 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:52592541_52592542insT ENST00000555852.1 - 0 45 ACCAAACAACACCAAATTCATG 0.391 5 1 --- --- --- --- KTN1-AS1 100129075 broad.mit.edu 37 14 55974148 55974149 + RNA INS - - A rs142670091 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:55974148_55974149insA ENST00000554558.1 - 0 364 TGAGTCTATGGATTGAGAAGTC 0.406 2 4 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57367477 57367500 + RNA DEL CACACACACACACACACACACACG CACACACACACACACACACACACG - rs58476426 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:57367477_57367500delCACACACACACACACACACACACG ENST00000534909.2 + 0 474 OTX2-AS1_ENST00000554428.1_RNA|OTX2-AS1_ENST00000554725.1_RNA|OTX2-AS1_ENST00000554358.1_RNA NR_029385.1 cacacacaaacacacacacacacacacacacacgcacacacaca 0.455 4 5 --- --- --- --- RP11-361H10.3 0 broad.mit.edu 37 14 76724413 76724413 + RNA DEL C C - rs144358285 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:76724413delC ENST00000554225.1 + 0 245 aagatggctgccacagccctt 0.517 2 4 --- --- --- --- RP11-114N19.3 0 broad.mit.edu 37 14 81622911 81622911 + RNA DEL T T - rs79933213 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr14:81622911delT ENST00000557775.1 - 0 495 attgcctctcttttttttttt 0.443 2 4 --- --- --- --- HERC2P3 283755 broad.mit.edu 37 15 20614996 20614999 + RNA DEL TTTG TTTG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:20614996_20614999delTTTG ENST00000428453.1 - 0 4041 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CCCTCACTTATTTGTTTGTTTAtt 0.392 5 6 --- --- --- --- LOC100128714 100128714 broad.mit.edu 37 15 26155665 26155666 + RNA INS - - A rs11451447 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:26155665_26155666insA ENST00000383019.2 + 0 207 NR_040082.1 gactcagactcaaaaaaacaaa 0.475 5 2 --- --- --- --- RP11-463I20.3 0 broad.mit.edu 37 15 35294232 35294235 + RNA DEL GAAG GAAG - rs34700807 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:35294232_35294235delGAAG ENST00000560140.1 + 0 377 aggaatgcatgaaggaaggaagga 0.441 4 9 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61917173 61917173 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:61917173delT ENST00000559783.1 - 0 35 GAGGAATAAGTTAGGCTTTGT 0.433 2 4 --- --- --- --- RP11-798K3.2 0 broad.mit.edu 37 15 67299332 67299333 + RNA DEL AC AC - rs59414627 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:67299332_67299333delAC ENST00000558071.1 - 0 114 AGAGAAGAAGACACAGATTTAG 0.505 4 2 --- --- --- --- RP11-382A20.4 0 broad.mit.edu 37 15 84059113 84059113 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:84059113delA ENST00000565495.1 + 0 264 CTTCTTGAAGAAAAAAAAAAA 0.403 2 4 --- --- --- --- LINC00928 283761 broad.mit.edu 37 15 90057187 90057188 + RNA DEL TA TA - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:90057187_90057188delTA ENST00000561201.1 - 0 490 NR_027075.1 GAATAGAATGTATGTTttcttg 0.450 5 2 --- --- --- --- RP11-152L20.3 0 broad.mit.edu 37 15 92854018 92854018 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:92854018delA ENST00000561674.1 - 0 185 ctccatctccaaaaaaaaaaa 0.393 3 4 --- --- --- --- LINC01197 400456 broad.mit.edu 37 15 95867414 95867417 + RNA DEL ACAG ACAG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:95867414_95867417delACAG ENST00000508732.2 - 0 271 NR_034095.1 TCTTTCTCAAACAGACAGAGCATG 0.324 6 5 --- --- --- --- CTD-2544M6.1 0 broad.mit.edu 37 15 98812319 98812320 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr15:98812319_98812320insC ENST00000560360.1 - 0 201 GGCAGCCCTGGCCCACGGAGCA 0.520 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5323766 5323766 + RNA DEL A A - rs146442154 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:5323766delA ENST00000569895.1 + 0 304 CAGATGGCCCAAAAAAGGCTG 0.502 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5612503 5612504 + RNA INS - - G rs148489785 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:5612503_5612504insG ENST00000569895.1 + 0 343 GAGGAGAAGAAGGGGGAGGACC 0.550 8 8 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5725220 5725221 + RNA DEL CA CA - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:5725220_5725221delCA ENST00000569895.1 + 0 403 TGTACTcacgcacacacacaca 0.436 4 5 --- --- --- --- U91319.1 0 broad.mit.edu 37 16 13421689 13421689 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:13421689delT ENST00000571619.1 + 0 178 aatttttgtatttttttagta 0.537 2 4 --- --- --- --- CTA-481E9.3 0 broad.mit.edu 37 16 18191351 18191352 + RNA DEL TG TG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:18191351_18191352delTG ENST00000563866.1 - 0 48 CTA-481E9.4_ENST00000567304.1_lincRNA AGCATTCCTTtgtgtgtgtgtg 0.371 3 5 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24804889 24804890 + Frame_Shift_Ins INS - - G rs139796934 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:24804889_24804890insG ENST00000395799.3 + 7 3400_3401 c.3271_3272insG c.(3271-3273)gggfs p.G1091fs TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1091fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1091 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TGGTCCCAGCTGGGGGGAACCC 0.550 7 157 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29439508 29439509 + RNA INS - - C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:29439508_29439509insC ENST00000398878.3 + 0 5991 ATGGGATTCTGCCCCCCCAAAA 0.317 2 4 --- --- --- --- HERC2P4 100289574 broad.mit.edu 37 16 32123215 32123215 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:32123215delG ENST00000564145.1 - 0 456 tattctagaaGGATAAATTAT 0.343 4 8 --- --- --- --- LOC102723841 102723841 broad.mit.edu 37 16 33366282 33366283 + RNA INS - - G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:33366282_33366283insG ENST00000568520.1 - 0 84 aaataaaaaTCGGGGGGGAGAA 0.441 2 4 --- --- --- --- CHD9 80205 broad.mit.edu 37 16 53243421 53243450 + In_Frame_Del DEL TCTGGGACATATACTAAGTTGCAGAATACC TCTGGGACATATACTAAGTTGCAGAATACC - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:53243421_53243450delTCTGGGACATATACTAAGTTGCAGAATACC ENST00000566029.1 + 3 1689_1718 c.1480_1509delTCTGGGACATATACTAAGTTGCAGAATACC c.(1480-1509)del p.SGTYTKLQNT494del CHD9_ENST00000564845.1_In_Frame_Del_p.SGTYTKLQNT494del|CHD9_ENST00000447540.1_In_Frame_Del_p.SGTYTKLQNT494del|CHD9_ENST00000398510.3_In_Frame_Del_p.SGTYTKLQNT494del Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 494 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GAGCGATGGTTCTGGGACATATACTAAGTTGCAGAATACCCAGGTGAGGG 0.365 10 30 --- --- --- --- RP11-459F6.3 0 broad.mit.edu 37 16 58165598 58165605 + RNA DEL CTCTCTTC CTCTCTTC - rs71155241 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:58165598_58165605delCTCTCTTC ENST00000569580.1 + 0 135 TTTTTCttttctctcttctttttttttt 0.399 2 4 --- --- --- --- RP11-410D17.2 0 broad.mit.edu 37 16 59125395 59125395 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:59125395delG ENST00000500117.1 + 0 749 TTCACAGGGTGGCAAGCAGGC 0.393 6 7 --- --- --- --- LINC00922 283867 broad.mit.edu 37 16 65462513 65462514 + RNA INS - - T rs77803779 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:65462513_65462514insT ENST00000569736.1 - 0 217 RP11-256I9.3_ENST00000562656.1_lincRNA NR_027755.1 gacaacccatattttttttttc 0.322 2 4 --- --- --- --- RP11-77K12.5 0 broad.mit.edu 37 16 75539673 75539673 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:75539673delT ENST00000571737.1 - 0 78 TGTACTGGTGTTTTTTTTTCT 0.388 2 4 --- --- --- --- CTD-2336H13.2 0 broad.mit.edu 37 16 76880327 76880328 + RNA DEL CA CA - rs148468241 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:76880327_76880328delCA ENST00000567777.1 + 0 138 cacacacatgcacacacacaca 0.401 2 4 --- --- --- --- CDYL2 124359 broad.mit.edu 37 16 80633635 80633635 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr16:80633635delA ENST00000570137.1 - 0 2781 TGCCAGGGTCAGGAGCAGGAA 0.468 2 4 --- --- --- --- KIF1C 10749 broad.mit.edu 37 17 4925397 4925398 + Frame_Shift_Ins INS - - G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:4925397_4925398insG ENST00000320785.5 + 22 2378_2379 c.2021_2022insG c.(2020-2022)tgafs p.*674fs KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 674 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TATGCAGACTCGGACAGCGGGG 0.574 9 210 --- --- --- --- MYHAS 100128560 broad.mit.edu 37 17 10489368 10489369 + RNA INS - - T rs149279541 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:10489368_10489369insT ENST00000587182.1 + 0 231 CTC-297N7.7_ENST00000579914.1_RNA CTTTTTAAGACttttttttttt 0.431 3 3 --- --- --- --- COX10-AS1 100874058 broad.mit.edu 37 17 13742394 13742394 + RNA DEL A A - rs71352419 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:13742394delA ENST00000577798.2 - 0 373 COX10-AS1_ENST00000602743.1_RNA|COX10-AS1_ENST00000582752.2_RNA actccatctcaaaaaaaaaaa 0.483 3 4 --- --- --- --- SMURF2P1 0 broad.mit.edu 37 17 28973188 28973188 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:28973188delA ENST00000578265.1 + 0 287 TGAGGGGAGGAAAACACCCCG 0.532 2 4 --- --- --- --- RP11-445F12.1 0 broad.mit.edu 37 17 35256461 35256461 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:35256461delA ENST00000528383.1 - 0 98 gagcaagaccaaaaaaaaaaa 0.438 2 4 --- --- --- --- YWHAEP7 284100 broad.mit.edu 37 17 36241505 36241505 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:36241505delG ENST00000590732.1 - 0 108 NR_024178.1 TAGATAACATGGTTAAAAAGG 0.373 2 4 --- --- --- --- MAP3K14 9020 broad.mit.edu 37 17 43371190 43371191 + RNA DEL CA CA - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:43371190_43371191delCA ENST00000344686.2 - 0 89 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 gacacacatgcacacacacaca 0.515 2 4 --- --- --- --- TOB1-AS1 400604 broad.mit.edu 37 17 48978093 48978094 + RNA INS - - G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:48978093_48978094insG ENST00000514358.1 + 0 161 TOB1-AS1_ENST00000523470.1_RNA CTGGGAGGGGAGGGGGGGGTTC 0.604 2 4 --- --- --- --- CTC-264K15.6 0 broad.mit.edu 37 17 62050435 62050436 + RNA INS - - C rs35134985 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:62050435_62050436insC ENST00000577329.1 - 0 345_346 ATCACCCCTGGCCCCCCCACCA 0.639 2 4 --- --- --- --- LOC102723505 102723505 broad.mit.edu 37 17 70018181 70018183 + RNA DEL AAA AAA - rs60415916 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:70018181_70018183delAAA ENST00000430908.2 - 0 217 CTTTGGAAGGAAAAAAAAAAAAA 0.305 2 4 --- --- --- --- RP11-101O21.1 0 broad.mit.edu 37 17 72131269 72131269 + RNA DEL C C - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr17:72131269delC ENST00000584003.1 - 0 163 ttccccttctcctgtacccct 0.512 2 4 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2110435 2110435 + RNA DEL A A - rs76061247 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr18:2110435delA ENST00000579097.1 - 0 310 accctgtctcaaaaaaaaaaa 0.512 4 6 --- --- --- --- RP11-703M24.5 0 broad.mit.edu 37 18 2821611 2821611 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr18:2821611delA ENST00000583546.1 - 0 308 ccagcaccgtaactcctttct 0.512 2 4 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22420632 22420633 + RNA DEL TG TG - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr18:22420632_22420633delTG ENST00000582650.1 + 0 235 GCCAtgtgtatgtgtgtgtgtg 0.436 3 5 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22442084 22442084 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr18:22442084delT ENST00000582650.1 + 0 235 TATTTTATGATTTTTAAATGT 0.353 2 4 --- --- --- --- LINC01532 100505835 broad.mit.edu 37 19 29501138 29501139 + RNA INS - - ACAT rs62111174 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:29501138_29501139insACAT ENST00000591143.1 + 0 287 NR_040036.1 tacacatacacacgcccaccta 0.446 5 3 --- --- --- --- AC007796.1 0 broad.mit.edu 37 19 31871306 31871306 + RNA DEL G G - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:31871306delG ENST00000585336.1 + 0 251 acaacaccttggattttctct 0.502 2 4 --- --- --- --- CEACAM20 125931 broad.mit.edu 37 19 45032189 45032192 + RNA DEL TTTC TTTC - rs112438515 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr19:45032189_45032192delTTTC ENST00000454753.1 - 0 331 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ctttctttcttttctttctttctt 0.392 3 4 --- --- --- --- SNAP25-AS1 100131208 broad.mit.edu 37 20 10292713 10292713 + RNA DEL T T - rs34912469 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr20:10292713delT ENST00000421143.2 - 0 5 SNAP25-AS1_ENST00000453544.1_RNA ttcctacttgttttttttctg 0.398 3 3 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29582648 29582649 + RNA INS - - A rs113003528 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr20:29582648_29582649insA ENST00000432067.1 - 0 288 ACCAACCAAAGAATGTTTGCTC 0.446 4 7 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29584135 29584136 + RNA INS - - A rs73621631 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr20:29584135_29584136insA ENST00000432067.1 - 0 288 gaccctatttcaaaaaaaTTAT 0.431 7 31 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29591671 29591673 + RNA DEL AGA AGA - rs73620377 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr20:29591671_29591673delAGA ENST00000432067.1 - 0 152 CAAAAGCAGCAGAAGTTAGCTTT 0.424 4 5 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58785597 58785598 + RNA DEL CA CA - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr20:58785597_58785598delCA ENST00000432910.1 + 0 332 NR_046099.1 TGGTAAATTTCACACAGGCTTC 0.381 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11033264 11033265 + RNA INS - - A rs143646950 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr21:11033264_11033265insA ENST00000470054.1 - 0 1476 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAAAAATTACTAAAAAATCTAT 0.257 4 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11045506 11045507 + RNA INS - - A rs144248158 TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr21:11045506_11045507insA ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAAAAGAAGAGAAAAATAGAAA 0.277 4 6 --- --- --- --- AP000233.4 0 broad.mit.edu 37 21 26658887 26658887 + RNA DEL A A - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr21:26658887delA ENST00000409758.1 - 0 89 taatttggccaaggaacactt 0.388 2 4 --- --- --- --- LOC101927973 101927973 broad.mit.edu 37 21 29522257 29522264 + RNA DEL GTGTGTGT GTGTGTGT - rs148057472 by1000genomes TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr21:29522257_29522264delGTGTGTGT ENST00000453420.1 - 0 705 GCGCGCGCGCgtgtgtgtgtgtgtgtgt 0.519 2 4 --- --- --- --- CRYBB2P1 1416 broad.mit.edu 37 22 25898379 25898380 + RNA INS - - G TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr22:25898379_25898380insG ENST00000354451.2 + 0 366 caaggatatttggggggtgatg 0.376 3 4 --- --- --- --- CRYBB2P1 1416 broad.mit.edu 37 22 25901640 25901640 + RNA DEL T T - TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba9d9630-fc6c-4ffb-8464-c1a2ddec6579 11b8842a-0156-4af7-a5e5-ebc07aef4a9f g.chr22:25901640delT ENST00000354451.2 + 0 366 ctggccAAGATTTTTTTTTTT 0.463 4 4 --- --- --- ---