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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut abParts 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T G G rs1054157 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.chr22:22663086T>G uc021wml.1 + 30 c.2444T>G abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript Parts of antibodies, mostly variable regions. AGCTGCCACATAAGTTGTCCT 0.299000 53 5 0 0 0.217242 0 0 EYA1 2138 broad.mit.edu 37 8 72233985 72233985 + Silent SNP G A 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 uc003xyu.3 - 5 1042 c.402C>T c.(400-402)taC>taT p.Y134Y EYA1_uc003xyt.4_Silent_p.Y101Y|EYA1_uc003xyr.4_Silent_p.Y134Y|EYA1_uc010lzf.3_Silent_p.Y61Y|EYA1_uc003xys.4_Silent_p.Y134Y|EYA1_uc011lfe.2_Silent_p.Y133Y|EYA1_uc003xyv.3_Silent_p.Y17Y NM_000503 NP_742055 Q99502 EYA1_HUMAN Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA. 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 166 4 0 0 0.184627 0 0 MYH11 4629 broad.mit.edu 37 16 15826509 15826509 + Missense_Mutation SNP C 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.chr16:15826509C>T uc002ddx.3 - 27 3691 c.3584G>A c.(3583-3585)cGg>cAg p.R1195Q MYH11_uc002ddv.3_Missense_Mutation_p.R1195Q|MYH11_uc002ddw.3_Missense_Mutation_p.R1188Q|MYH11_uc002ddy.3_Missense_Mutation_p.R1188Q|MYH11_uc010bvg.3_Missense_Mutation_p.R1020Q NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 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 ATP binding|actin 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 96 68 0 0 0.870114 0 0 PRX 57716 broad.mit.edu 37 19 40899883 40899883 + Missense_Mutation SNP G A 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 uc002onr.3 - 6 4645 c.4376C>T c.(4375-4377)gCg>gTg p.A1459V PRX_uc002onq.3_Missense_Mutation_p.A1320V|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 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 127 4 0 0 0.217242 0 0 DENND5B 160518 broad.mit.edu 37 12 31604932 31604932 + Missense_Mutation SNP G 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.chr12:31604932G>T uc001rkh.1 - 6 1827 c.1676C>A c.(1675-1677)aCt>aAt p.T559N DENND5B_uc001rki.1_Missense_Mutation_p.T524N|DENND5B_uc001rkj.3_Missense_Mutation_p.T546N|DENND5B_uc001rkk.1_Missense_Mutation_p.T446N NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA. 524 dDENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GTCCTGGGCAGTCTGAATGAC 0.443000 61 3 0.115264 0.141198 0.115264 1 0 CLCN3 1182 broad.mit.edu 37 4 170618538 170618538 + Missense_Mutation SNP T C 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 uc003ish.3 + 8 1775 c.1216T>C c.(1216-1218)Ttt>Ctt p.F406L CLCN3_uc003isi.3_Missense_Mutation_p.F406L|CLCN3_uc011cka.2_Missense_Mutation_p.F379L|CLCN3_uc011cjz.2_Missense_Mutation_p.F389L|CLCN3_uc003isj.2_Missense_Mutation_p.F379L NM_173872 NP_776297 P51790 CLCN3_HUMAN Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA. 406 endosomal lumen acidification Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane ATP binding|PDZ domain binding|antiporter activity|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 165 3 0 0 0.115264 0 0 NPHP1 4867 broad.mit.edu 37 2 110905497 110905497 + Missense_Mutation SNP C 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.chr2:110905497C>T uc002tfn.4 - 12 1524 c.1430G>A c.(1429-1431)cGc>cAc p.R477H NPHP1_uc002tfm.4_Missense_Mutation_p.R422H|NPHP1_uc002tfl.4_Missense_Mutation_p.R478H|NPHP1_uc002tfo.4_Missense_Mutation_p.R359H|NPHP1_uc010ywx.2_Missense_Mutation_p.R421H|NPHP1_uc010fjv.1_Missense_Mutation_p.R421H NM_207181 NP_997064 O15259 NPHP1_HUMAN Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA. 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 53 35 0 0 0.796494 0 0 SALL3 27164 broad.mit.edu 37 18 76755190 76755190 + Missense_Mutation SNP G A 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 uc002lmt.3 + 1 3199 c.3199G>A c.(3199-3201)Ggt>Agt p.G1067S SALL3_uc010dra.3_Missense_Mutation_p.G602S NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA. 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 51 34 0 0 0.788014 0 0 GALNTL2 117248 broad.mit.edu 37 3 16216757 16216757 + Silent SNP G A 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.chr3:16216757G>A uc003car.4 + 0 574 c.99G>A c.(97-99)ttG>ttA p.L33L GALNTL2_uc003caq.4_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 33 Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 TGGCGATGTTGCACCCTCCCC 0.587000 230 5 0 0 0.217242 0 0 MECP2 4204 broad.mit.edu 37 X 153297780 153297780 + Silent SNP G A 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:153297780G>A uc004fjv.2 - 2 481 c.255C>T c.(253-255)cgC>cgT p.R85R MECP2_uc004fjw.2_Silent_p.R97R NM_004992 NP_004983 P51608 MECP2_HUMAN Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA. 85 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity p.R84W(1) breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGATGATGGAGCGCCGCTGTT 0.622000 218 4 0 0 0.150653 0 0 CGB8 94115 broad.mit.edu 37 19 49558229 49558229 + Missense_Mutation SNP T C 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.chr19:49558229T>C uc002pmd.3 - 1 1272 c.52A>G c.(52-54)Aca>Gca p.T18A CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Missense_Mutation_p.T18A NM_033142 NP_149133 P01233 CGHB_HUMAN Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA. 18 T -> A. apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity p.T18A(1) pancreas(1) 1 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) GATGCCCATGTCCCGCCCATG 0.657000 123 3 0 0 0.248553 0 0 ZNF98 148198 broad.mit.edu 37 19 22574657 22574657 + Silent SNP T C 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.chr19:22574657T>C uc002nqt.2 - 3 1502 c.1380A>G c.(1378-1380)aaA>aaG p.K460K NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN Homo sapiens zinc finger protein 98 (ZNF98), mRNA. 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) ATTTGTAGGGTTTCTCTCCAG 0.373000 58 3 0 0 0.150653 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43204776 43204776 + Silent SNP A C 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 uc003bdd.2 - 12 1537 c.1317T>G c.(1315-1317)gcT>gcG p.A439A ARFGAP3_uc010gzf.2_Silent_p.A395A NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA. 439 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|cytosol ARF GTPase activator activity|protein transporter activity|zinc ion binding p.Q438K(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 CCCTTACATCAGCCTGGGATT 0.488000 111 61 0 0 0.870114 0 0 ADIPOR2 79602 broad.mit.edu 37 12 1890190 1890190 + Missense_Mutation SNP A G 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 uc001qjm.3 + 5 983 c.786A>G c.(784-786)atA>atG p.I262M ADIPOR2_uc001qjn.3_Missense_Mutation_p.I262M NM_024551 NP_078827 Q86V24 ADR2_HUMAN Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA. 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 150 3 0 0 0.115264 0 0 HRCT1 646962 broad.mit.edu 37 9 35906559 35906559 + Missense_Mutation SNP A C 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 uc003zyr.1 + 0 371 c.275A>C c.(274-276)cAc>cCc p.H92P LOC158376_uc003zys.1_5'Flank NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN Homo sapiens histidine rich carboxyl terminus 1 (HRCT1), mRNA. 92 His-rich. integral to membrane p.H92P(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 caccaccaccacccccgccac 0.682000 16 6 0 0 0.539581 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19413033 19413033 + RNA SNP G A 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.chr13:19413033G>A uc010tcj.1 - 0 c.33077C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GCACATCCATGCACTAAAAAG 0.294000 6 3 0 0 0.115264 0 0 FBLN1 2192 broad.mit.edu 37 22 45914606 45914606 + Missense_Mutation SNP C 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.chr22:45914606C>T uc010gzz.3 + 1 271 c.124C>T c.(124-126)Cgg>Tgg p.R42W FBLN1_uc003bgg.1_Missense_Mutation_p.R42W|FBLN1_uc003bgh.3_Missense_Mutation_p.R42W|FBLN1_uc003bgi.1_Missense_Mutation_p.R42W|FBLN1_uc003bgj.1_Missense_Mutation_p.R42W NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 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 0.654019 0 0 VASN 114990 broad.mit.edu 37 16 4431310 4431310 + Silent SNP C 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.chr16:4431310C>T uc021tch.1 + 0 432 c.432C>T c.(430-432)ttC>ttT p.F144F CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.F144F NM_138440 NP_612449 Q6EMK4 VASN_HUMAN Homo sapiens vasorin (VASN), mRNA. 144 Missing (in Ref. 2; AAQ88665). extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 CTGGTGCCTTCGACACGCTCG 0.677000 21 15 0 0 0.520397 0 0 TREX2 11219 broad.mit.edu 37 X 152710664 152710664 + Silent SNP G A 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 uc022chv.1 - 0 225 c.225C>T c.(223-225)agC>agT p.S75S TREX2_uc010nud.2_Silent_p.S75S|TREX2_uc011myp.2_Silent_p.S75S|TREX2_uc010nue.2_Silent_p.S117S|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript NM_080701 NP_542432 Q9BQ50 TREX2_HUMAN Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA. 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 53 3 0 0 0.150653 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A G 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 uc002vbg.1 + 2 239 c.127A>G c.(127-129)Agc>Ggc p.S43G NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank NM_021121 NP_066944 P24534 EF1B_HUMAN Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA. 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(8) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 154 5 0 0 0.184627 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221921 118221921 + Missense_Mutation SNP G C 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 uc004era.4 - 10 3272 c.3272C>G c.(3271-3273)aCc>aGc p.T1091S NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 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 160 118 0 0 0.870114 0 0 DAPP1 27071 broad.mit.edu 37 4 100774447 100774447 + Missense_Mutation SNP T C 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 uc003hvf.4 + 3 521 c.431T>C c.(430-432)gTt>gCt p.V144A DAPP1_uc011cek.2_Intron|DAPP1_uc010ilh.3_Missense_Mutation_p.V144A NM_014395 NP_055210 Q9UN19 DAPP1_HUMAN Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA. 144 signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity p.R143R(1) endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) TCTGTCCGGGTTCACACAGCA 0.448000 23 9 0 0 0.335167 0 0 ZFPM2 23414 broad.mit.edu 37 8 106801107 106801107 + Missense_Mutation SNP C A 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 uc003ymd.3 + 5 717 c.694C>A c.(694-696)Cag>Aag p.Q232K ZFPM2_uc011lhs.2_5'UTR NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 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 22 108 1.04646e-50 1.38586e-50 0.870114 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G A 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 uc002vbg.1 + 2 247 c.135G>A c.(133-135)ccG>ccA p.P45P NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank NM_021121 NP_066944 P24534 EF1B_HUMAN Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA. 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(10) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 157 5 0 0 0.184627 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19413025 19413025 + RNA SNP A G 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.chr13:19413025A>G uc010tcj.1 - 0 c.33085T>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AATAACCTGCACATCCATGCA 0.299000 10 3 0 0 0.115264 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A G 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 uc011bug.2 - 3 c.417T>C LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA. GGCTCTGTCCACCAAATGCAC 0.478000 156 3 0 0 0.115264 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T A 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 uc001doe.3 + 1 248 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_uc001dof.3_Nonsense_Mutation_p.L28*|CDC7_uc010osw.2_Nonsense_Mutation_p.L28*|CDC7_uc009wdc.3_Nonsense_Mutation_p.L28* NM_003503 NP_003494 O00311 CDC7_HUMAN Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA. 28 DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|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 120 4 0 0 0.150653 0 0 CD22 933 broad.mit.edu 37 19 35827206 35827206 + Missense_Mutation SNP A 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.chr19:35827206A>T uc010edt.3 + 3 764 c.680A>T c.(679-681)aAg>aTg p.K227M CD22_uc010edu.3_Missense_Mutation_p.K227M|CD22_uc010edv.3_Missense_Mutation_p.K227M|CD22_uc002nzb.4_Missense_Mutation_p.K227M|CD22_uc010xst.2_Missense_Mutation_p.K55M|CD22_uc010edx.3_5'Flank NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 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 51 37 0 0 0.870114 0 0 SEPT6 23157 broad.mit.edu 37 X 118783980 118783980 + Missense_Mutation SNP C 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.chrX:118783980C>T uc004erv.3 - 4 875 c.610G>A c.(610-612)Gag>Aag p.E204K SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Missense_Mutation_p.E204K|SEPT6_uc004ert.3_Missense_Mutation_p.E204K|SEPT6_uc004eru.3_Missense_Mutation_p.E204K|SEPT6_uc004erw.3_Missense_Mutation_p.E146K|SEPT6_uc011mtv.1_Missense_Mutation_p.E146K|SEPT6_uc011mtw.1_Missense_Mutation_p.E234K NM_015129 NP_055944 Q14141 SEPT6_HUMAN Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA. 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 161 108 0 0 0.870114 0 0 ZNF827 152485 broad.mit.edu 37 4 146686225 146686225 + Missense_Mutation SNP A C 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 uc003ikn.3 - 12 3193 c.3145T>G c.(3145-3147)Tgt>Ggt p.C1049G ZNF827_uc003ikm.3_Missense_Mutation_p.C1049G|ZNF827_uc010iox.3_Missense_Mutation_p.C699G|ZNF827_uc003ikl.3_Missense_Mutation_p.C134G NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 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 109 60 0 0 0.870114 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140768251 140768251 + Missense_Mutation SNP C 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.chr5:140768251C>T uc003lkc.2 + 0 800 c.800C>T c.(799-801)aCg>aTg p.T267M PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR NM_003736 NP_003727 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA. 267 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGACTGCCACGGACCAGGAT 0.498000 121 85 0 0 0.870114 0 0 DSCAM 1826 broad.mit.edu 37 21 41648146 41648146 + Missense_Mutation SNP A G 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 uc002yyq.1 - 10 2686 c.2234T>C c.(2233-2235)gTt>gCt p.V745A DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 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 41 31 0 0 0.760397 0 0 SCN2A 6326 broad.mit.edu 37 2 166246020 166246020 + Missense_Mutation SNP C 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.chr2:166246020C>T uc002udc.3 + 26 5994 c.5704C>T c.(5704-5706)Cgc>Tgc p.R1902C SCN2A_uc002udd.3_Missense_Mutation_p.R1902C|SCN2A_uc002ude.3_Missense_Mutation_p.R1902C|SCN2A_uc021vry.1_Missense_Mutation_p.R402C NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 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 34 15 0 0 0.500413 0 0 BPIFB4 149954 broad.mit.edu 37 20 31690787 31690787 + Silent SNP C G 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.chr20:31690787C>G uc010zue.2 + 12 1662 c.1647C>G c.(1645-1647)ctC>ctG p.L549L NM_182519 NP_872325 P59827 LPLC4_HUMAN Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA. 549 cytoplasm|extracellular region lipid binding GGACCAGCCTCAACCTCAGAA 0.498000 207 3 0 0 0.184627 0 0 RPTN 126638 broad.mit.edu 37 1 152127845 152127848 + Frame_Shift_Del DEL 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 uc001ezs.1 - 2 1792_1795 c.1727_1730delGACA c.(1726-1731)agacaafs p.R576fs NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 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 --- 1039 --- --- 8 --- NKTR 4820 broad.mit.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - C 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 uc003clo.3 + 12 1986_1987 c.1839_1840insC c.(1837-1842)agtcccfs p.S613fs NKTR_uc003clm.1_Frame_Shift_Ins_p.S360fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Ins_p.S360fs|NKTR_uc003clq.1_Frame_Shift_Ins_p.S503fs|NKTR_uc003clr.1_Frame_Shift_Ins_p.S360fs|NKTR_uc003cls.3_Frame_Shift_Ins_p.S313fs NM_005385 NP_005376 P30414 NKTR_HUMAN Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA. 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 --- 376 --- --- 7 --- COL12A1 1303 broad.mit.edu 37 6 75899298 75899298 + Frame_Shift_Del DEL 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 uc021zbv.1 - 4 663 c.628delA c.(628-630)attfs p.I210fs COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Frame_Shift_Del_p.I210fs|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 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 --- 176 --- --- 7 --- ZNF704 619279 broad.mit.edu 37 8 81733778 81733778 + Frame_Shift_Del DEL 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 uc003yby.2 - 1 284 c.52delA c.(52-54)atgfs p.M18fs NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN Homo sapiens zinc finger protein 704 (ZNF704), mRNA. 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 --- 1587 --- --- 9 --- UBR5 51366 broad.mit.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL 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 uc003ykr.2 - 44 6815 c.6360delA c.(6358-6360)aaafs p.K2120fs UBR5_uc003yks.2_Frame_Shift_Del_p.K2120fs NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 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 RNA binding|protein 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 --- 616 --- --- 10 --- DUSP8 1850 broad.mit.edu 37 11 1586978 1586979 + Frame_Shift_Ins INS - C 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 uc001lts.2 - 1 206_207 c.78_79insG c.(76-81)gggccgfs p.G26fs MOB2_uc001ltq.2_Intron NM_004420 NP_004411 Q13202 DUS8_HUMAN Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA. 26 Rhodanese. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.G25G(1) 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 --- 358 --- --- 7 --- KSR1 8844 broad.mit.edu 37 17 25910015 25910016 + Frame_Shift_Ins INS - C 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 uc010crg.3 + 4 898_899 c.453_454insC c.(451-456)acgcccfs p.T151fs KSR1_uc002gzj.1_Non-coding_Transcript NM_014238 NP_055053 Q8IVT5 KSR1_HUMAN Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA. 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 --- 26 --- --- 8 --- PMEPA1 56937 broad.mit.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - G 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 uc002xyq.3 - 3 1017_1018 c.624_625insC c.(622-627)cccagcfs p.P208fs PMEPA1_uc002xyr.3_Frame_Shift_Ins_p.P158fs|PMEPA1_uc002xys.3_Frame_Shift_Ins_p.P173fs|PMEPA1_uc002xyt.3_Frame_Shift_Ins_p.P158fs NM_020182 NP_954640 Q969W9 PMEPA_HUMAN Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA. 208 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 --- 130 --- --- 7 --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL 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 uc003bbi.3 + 1 372_374 c.203_205delGCA c.(202-207)ggcagc>ggc p.S74del bK250D10.C22.8_uc003bba.1_Intron NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 74 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus 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 --- 116 --- --- 8 --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL 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 uc003bcj.1 - 0 668_670 c.534_536delGCA c.(532-537)cagcaa>caa p.178_179QQ>Q TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 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 --- 179 --- --- 7 ---