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 CD22 933 broad.mit.edu 37 19 35827206 35827206 + Missense_Mutation SNP A A T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr19:35827206A>T ENST00000085219.5 + 4 746 c.680A>T c.(679-681)aAg>aTg p.K227M CD22_ENST00000536635.2_Missense_Mutation_p.K227M|CD22_ENST00000270311.6_Missense_Mutation_p.K107M|CD22_ENST00000594250.1_Missense_Mutation_p.K227M|CD22_ENST00000341773.6_Missense_Mutation_p.K227M|CD22_ENST00000544992.2_Missense_Mutation_p.K227M|CD22_ENST00000419549.2_Missense_Mutation_p.K55M NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 227 Ig-like C2-type 1. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GCAGATGGGAAGTTCCTCTCC 0.582000 37 51 0 0 0.048971 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 66 0 0 0.009096 0 0 ZFPM2 23414 broad.mit.edu 37 8 106801107 106801107 + Missense_Mutation SNP C C A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr8:106801107C>A ENST00000407775.2 + 6 944 c.694C>A c.(694-696)Cag>Aag p.Q232K RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q100K|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q100K NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 232 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCTGCTTCCTCAGCAAGCTGC 0.498000 108 22 1.04646e-50 1.42699e-50 0.048971 1 0 SCN2A 6326 broad.mit.edu 37 2 166246020 166246020 + Missense_Mutation SNP C C T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr2:166246020C>T ENST00000357398.3 + 27 5994 c.5704C>T c.(5704-5706)Cgc>Tgc p.R1902C SCN2A_ENST00000375437.2_Missense_Mutation_p.R1902C|SCN2A_ENST00000283256.6_Missense_Mutation_p.R1902C|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1902C Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1902 R -> T (associated with autism). myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CACGTTGAAACGCAAACAAGA 0.433000 15 34 0 0 0.028581 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768251 140768251 + Missense_Mutation SNP C C T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr5:140768251C>T ENST00000519479.1 + 1 800 c.800C>T c.(799-801)aCg>aTg p.T267M PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACTGCCACGGACCAGGAT 0.498000 85 121 0 0 0.048971 0 0 FBLN1 2192 broad.mit.edu 37 22 45914606 45914606 + Missense_Mutation SNP C C T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr22:45914606C>T ENST00000348697.2 + 2 271 c.124C>T c.(124-126)Cgg>Tgg p.R42W FBLN1_ENST00000442170.2_Missense_Mutation_p.R42W|FBLN1_ENST00000327858.6_Missense_Mutation_p.R42W|FBLN1_ENST00000402984.3_Missense_Mutation_p.R42W|FBLN1_ENST00000340923.5_Missense_Mutation_p.R42W|FBLN1_ENST00000262722.7_Missense_Mutation_p.R42W P23142 FBLN1_HUMAN fibulin 1 42 Anaphylatoxin-like 1. HR -> SH (in Ref. 8; AA sequence). interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GGACGGACACCGGATGGCCAC 0.582000 20 20 0 0 0.083992 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 5 154 0 0 0.014758 0 0 SALL3 27164 broad.mit.edu 37 18 76755190 76755190 + Missense_Mutation SNP G G A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr18:76755190G>A ENST00000536229.3 + 2 3293 c.2584G>A c.(2584-2586)Ggt>Agt p.G862S SALL3_ENST00000537592.2_Missense_Mutation_p.G1067S|SALL3_ENST00000575389.2_Missense_Mutation_p.G995S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 1067 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGAAGTGAACGGTCACGGCAA 0.652000 34 51 0 0 0.064281 0 0 ZNF681 148213 broad.mit.edu 37 19 23926839 23926839 + Missense_Mutation SNP A A G TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr19:23926839A>G ENST00000402377.3 - 4 1654 c.1513T>C c.(1513-1515)Tcc>Ccc p.S505P ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CATTTGTAGGATTTCTCTCCA 0.373000 3 105 0 0 0.009096 0 0 NPHP1 4867 broad.mit.edu 37 2 110905497 110905497 + Missense_Mutation SNP C C T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr2:110905497C>T ENST00000316534.4 - 13 1506 c.1433G>A c.(1432-1434)cGc>cAc p.R478H NPHP1_ENST00000417665.1_Missense_Mutation_p.R421H|NPHP1_ENST00000393272.3_Missense_Mutation_p.R477H|NPHP1_ENST00000355301.4_Missense_Mutation_p.R359H|NPHP1_ENST00000445609.2_Missense_Mutation_p.R422H O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 477 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 ACATACATTGCGAATATAAGA 0.343000 35 53 0 0 0.069456 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28* NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAAC 0.403000 4 120 0 0 0.009096 0 0 VASN 114990 broad.mit.edu 37 16 4431310 4431310 + Silent SNP C C T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr16:4431310C>T ENST00000304735.3 + 2 587 c.432C>T c.(430-432)ttC>ttT p.F144F CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 144 Missing (in Ref. 2; AAQ88665). extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 CTGGTGCCTTCGACACGCTCG 0.677000 15 21 0 0 0.033300 0 0 CLCN3 1182 broad.mit.edu 37 4 170618538 170618538 + Missense_Mutation SNP T T C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr4:170618538T>C ENST00000513761.1 + 9 1775 c.1216T>C c.(1216-1218)Ttt>Ctt p.F406L CLCN3_ENST00000360642.3_Missense_Mutation_p.F379L|CLCN3_ENST00000347613.4_Missense_Mutation_p.F406L|CLCN3_ENST00000504131.2_Missense_Mutation_p.F389L NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 406 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TTGGGGAGCCTTTTTCATTAG 0.438000 3 165 0 0 0.004672 0 0 PCNT 5116 broad.mit.edu 37 21 47754527 47754527 + Missense_Mutation SNP A A G TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr21:47754527A>G ENST00000359568.5 + 3 591 c.484A>G c.(484-486)Agt>Ggt p.S162G PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 162 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTTCACAGTCAGTGACCACCC 0.552000 4 180 0 0 0.014758 0 0 DSCAM 1826 broad.mit.edu 37 21 41648146 41648146 + Missense_Mutation SNP A A G TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr21:41648146A>G ENST00000400454.1 - 11 2711 c.2234T>C c.(2233-2235)gTt>gCt p.V745A NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 745 Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) ATTGCTGAGAACTTGGATTCG 0.512000 31 41 0 0 0.050027 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 156 0 0 0.004672 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1890190 1890190 + Missense_Mutation SNP A A G TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr12:1890190A>G ENST00000357103.4 + 6 1037 c.786A>G c.(784-786)atA>atG p.I262M NM_024551.2 NP_078827.2 Q86V24 ADR2_HUMAN adiponectin receptor 2 262 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane hormone binding|receptor activity endometrium(1)|large_intestine(3)|lung(7)|stomach(1) 12 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000382) CAGCCATTATAGTCTCCCAGT 0.443000 3 150 0 0 0.004672 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 5 157 0 0 0.014758 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A A C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr9:35906559A>C ENST00000354323.2 + 1 371 c.275A>C c.(274-276)cAc>cCc p.H92P NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 92 His-rich. integral to membrane p.H92P(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 6 16 0 0 0.038395 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221921 118221921 + Missense_Mutation SNP G G C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chrX:118221921G>C ENST00000402510.2 - 11 3271 c.3272C>G c.(3271-3273)aCc>aGc p.T1091S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1091 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AAATTTAGGGGTCACCCATGG 0.493000 118 160 0 0 0.048971 0 0 SEMG1 6406 broad.mit.edu 37 20 43837052 43837052 + Missense_Mutation SNP C C A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr20:43837052C>A ENST00000372781.3 + 2 1171 c.1114C>A c.(1114-1116)Cgc>Agc p.R372S SEMG1_ENST00000244069.6_Missense_Mutation_p.R312S NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) TGTATCCCAACGCAGTATTTA 0.418000 3 72 0.004672 0.00600686 0.004672 1 0 MYH11 4629 broad.mit.edu 37 16 15826509 15826509 + Missense_Mutation SNP C C T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr16:15826509C>T ENST00000338282.6 - 27 3669 c.3563G>A c.(3562-3564)cGg>cAg p.R1188Q MYH11_ENST00000396324.3_Missense_Mutation_p.R1195Q|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.1_Missense_Mutation_p.R1188Q|MYH11_ENST00000452625.2_Missense_Mutation_p.R1195Q|MYH11_ENST00000300036.5_Missense_Mutation_p.R1188Q NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1188 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTCATGGGACCGCGTCTCTTC 0.572000 T CBFB AML 68 96 0 0 0.048971 0 0 PRX 57716 broad.mit.edu 37 19 40899883 40899883 + Missense_Mutation SNP G G A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr19:40899883G>A ENST00000324001.7 - 7 4646 c.4376C>T c.(4375-4377)gCg>gTg p.A1459V PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1459 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCAGACAGCCGCAGCCTGAGC 0.617000 4 127 0 0 0.021553 0 0 TREX2 11219 broad.mit.edu 37 X 152710664 152710664 + Silent SNP G G A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chrX:152710664G>A ENST00000330912.2 - 13 1775 c.225C>T c.(223-225)agC>agT p.S75S TREX2_ENST00000370232.1_Silent_p.S118S|TREX2_ENST00000334497.2_Silent_p.S118S|TREX2_ENST00000414588.1_Silent_p.S117S|TREX2_ENST00000393862.2_Silent_p.S75S|TREX2_ENST00000402951.1_Silent_p.S118S|TREX2_ENST00000338525.2_Silent_p.S75S|TREX2_ENST00000370231.2_Silent_p.S75S Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 118 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGTGATCTCGCTGGCCTTGG 0.682000 Editing and processing nucleases 3 53 0 0 0.009096 0 0 EYA1 2138 broad.mit.edu 37 8 72233985 72233985 + Silent SNP G G A TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr8:72233985G>A ENST00000340726.3 - 6 1041 c.402C>T c.(400-402)taC>taT p.Y134Y EYA1_ENST00000388741.2_Silent_p.Y100Y|EYA1_ENST00000388743.2_Silent_p.Y133Y|EYA1_ENST00000419131.1_Silent_p.Y134Y|EYA1_ENST00000388740.3_Silent_p.Y101Y|EYA1_ENST00000303824.7_Silent_p.Y133Y|EYA1_ENST00000388742.4_Silent_p.Y134Y NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 134 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AGGAAATGCCGTACGGCTGTC 0.483000 4 166 0 0 0.014758 0 0 SEPT6 23157 broad.mit.edu 37 X 118783980 118783980 + Missense_Mutation SNP C C T TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chrX:118783980C>T ENST00000394610.1 - 5 874 c.610G>A c.(610-612)Gag>Aag p.E204K SEPT6_ENST00000394616.4_Missense_Mutation_p.E146K|SEPT6_ENST00000354416.3_Missense_Mutation_p.E204K|SEPT6_ENST00000394617.2_Missense_Mutation_p.E234K|SEPT6_ENST00000343984.5_Missense_Mutation_p.E204K|SEPT6_ENST00000360156.7_Missense_Mutation_p.E204K|SEPT6_ENST00000354228.4_Missense_Mutation_p.E204K|SEPT6_ENST00000489216.1_Missense_Mutation_p.E204K NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 204 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 CTGACAAGCTCGCTGGTGATT 0.473000 T MLL AML 108 161 0 0 0.048971 0 0 ZNF827 152485 broad.mit.edu 37 4 146686225 146686225 + Missense_Mutation SNP A A C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr4:146686225A>C ENST00000508784.1 - 13 3372 c.3145T>G c.(3145-3147)Tgt>Ggt p.C1049G ZNF827_ENST00000513320.1_Missense_Mutation_p.C699G|ZNF827_ENST00000379448.4_Missense_Mutation_p.C1049G Q17R98 ZN827_HUMAN zinc finger protein 827 1049 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) CACACATCACACTCAAACATC 0.493000 60 109 0 0 0.048971 0 0 DAPP1 27071 broad.mit.edu 37 4 100774447 100774447 + Missense_Mutation SNP T T C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr4:100774447T>C ENST00000296414.7 + 4 512 c.431T>C c.(430-432)gTt>gCt p.V144A DAPP1_ENST00000512369.1_Missense_Mutation_p.V144A Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 144 signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) TCTGTCCGGGTTCACACAGCA 0.448000 9 23 0 0 0.058154 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43204776 43204776 + Silent SNP A A C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr22:43204776A>C ENST00000263245.5 - 13 1536 c.1317T>G c.(1315-1317)gcT>gcG p.A439A ARFGAP3_ENST00000437119.2_Silent_p.A395A|ARFGAP3_ENST00000429508.2_Silent_p.A367A NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 439 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCCTTACATCAGCCTGGGATT 0.488000 61 111 0 0 0.048971 0 0 RPTN 126638 broad.mit.edu 37 1 152127845 152127848 + Frame_Shift_Del DEL TGTC TGTC - TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr1:152127845_152127848delTGTC ENST00000316073.3 - 3 1791_1794 c.1727_1730delGACA c.(1726-1731)aafs p.RQ576fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 576 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.466 8 1039 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr3:42679035_42679036insC ENST00000232978.8 + 13 2027_2028 c.1839_1840insC c.(1837-1842)agccccfs p.SP613fs RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 613 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGAGTGACAGTCCCCCCCCTTC 0.421 7 375 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75899298 75899298 + Frame_Shift_Del DEL T T - TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr6:75899298delT ENST00000322507.8 - 6 937 c.628delA c.(628-630)ttfs p.I210fs COL12A1_ENST00000483888.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.I210fs|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 210 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTATATGGAATTTTTTTTATT 0.323 7 176 --- --- --- --- ZNF704 619279 broad.mit.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL T T - TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr8:81733778delT ENST00000327835.3 - 2 283 c.52delA c.(52-54)tgfs p.M18fs NM_001033723.2 NP_001028895.1 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 18 intracellular zinc ion binding lung(9)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) TGATGAGACATTTTTTTACCA 0.423 9 1586 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr8:103289349delT ENST00000520539.1 - 45 6966 c.6360delA c.(6358-6360)aafs p.K2120fs UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2120 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTTCCCCTTCTTTTTTTTGCC 0.378 10 614 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1586978 1586979 + Frame_Shift_Ins INS - - C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr11:1586978_1586979insC ENST00000397374.3 - 2 205_206 c.78_79insG c.(76-81)ggcgctfs p.A27fs DUSP8_ENST00000331588.4_Frame_Shift_Ins_p.A27fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 27 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) ATGACCAGCGGCCCCCCAGGCC 0.663 7 358 --- --- --- --- LOC100506125 100506125 broad.mit.edu 37 12 49183367 49183367 + RNA DEL G G - rs10711161 TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr12:49183367delG ENST00000549864.1 + 0 9 ccctgccccagccccagcccc 0.657 3 4 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25337049 25337050 + RNA DEL GA GA - TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr15:25337049_25337050delGA ENST00000546682.1 + 0 969 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 ACTGGAGCTGGAGAGAGAGAGA 0.500 7 138 --- --- --- --- KSR1 8844 broad.mit.edu 37 17 25910015 25910016 + Frame_Shift_Ins INS - - C TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr17:25910015_25910016insC ENST00000398988.3 + 5 898_899 c.453_454insC c.(451-456)acccccfs p.TP151fs KSR1_ENST00000319524.6_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000509603.2_Frame_Shift_Ins_p.TP288fs|KSR1_ENST00000268763.6_Frame_Shift_Ins_p.TP151fs NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 286 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.P292fs*22(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CACCACGGACGCCCCCCCCACC 0.678 8 26 --- --- --- --- PMEPA1 56937 broad.mit.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr20:56227348_56227349insG ENST00000341744.3 - 4 943_944 c.624_625insC c.(622-627)ccgcagfs p.Q209fs PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs NM_020182.4 NP_064567.2 Q969W9 PMEPA_HUMAN prostate transmembrane protein, androgen induced 1 209 androgen receptor signaling pathway integral to membrane|plasma membrane WW domain binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1) 16 GAGTTACTGCTGGGGGGGCAGG 0.683 7 130 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 8 116 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-FR-A2OS-01A-11D-A21A-08 TCGA-FR-A2OS-10B-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce829e3d-a0cd-40f6-9974-426eb4085f4f 9b315eb9-416e-4ee3-87dd-f7057c6ef2d1 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 7 179 --- --- --- ---