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 HNRNPA3 220988 broad.mit.edu 37 2 178080605 178080605 + Missense_Mutation SNP A A C TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr2:178080605A>C ENST00000411529.2 + 3 308 c.257A>C c.(256-258)aAg>aCg p.K86T HNRNPA3_ENST00000435711.1_Missense_Mutation_p.K108T|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.K108T NM_194247.2 NP_919223.1 P51991 ROA3_HUMAN heterogeneous nuclear ribonucleoprotein A3 108 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 GTGGAACCAAAGAGAGCTGTT 0.373000 9 71 0 0 1 0 0 SYDE1 85360 broad.mit.edu 37 19 15224479 15224479 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr19:15224479G>A ENST00000600252.1 + 5 2526 c.884G>A c.(883-885)cGc>cAc p.R295H SYDE1_ENST00000600440.1_Missense_Mutation_p.R571H|SYDE1_ENST00000342784.2_Missense_Mutation_p.R638H Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 638 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 ACTCGGCCCCGCGGTCGAGGA 0.682000 19 78 0 0 1 0 0 RAD51B 5890 broad.mit.edu 37 14 68353829 68353829 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr14:68353829G>A ENST00000487270.1 + 7 712 c.664G>A c.(664-666)Gca>Aca p.A222T RAD51B_ENST00000488612.1_Missense_Mutation_p.A222T|RAD51B_ENST00000487861.1_Missense_Mutation_p.A222T|RAD51B_ENST00000471583.1_Missense_Mutation_p.A222T|RAD51B_ENST00000390683.3_Missense_Mutation_p.A222T NM_133509.3 NP_598193.2 O15315 RA51B_HUMAN RAD51 paralog B 222 blood coagulation|DNA repair|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 GGAGTTTGATGCACAACTTCA 0.373000 Direct reversal of damage 12 74 0 0 1 0 0 CTSO 1519 broad.mit.edu 37 4 156860533 156860533 + Nonsense_Mutation SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr4:156860533C>T ENST00000433477.3 - 4 611 c.542G>A c.(541-543)tGg>tAg p.W181* NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 181 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CTTGTTTAACCAGTTCAAAGC 0.388000 9 82 0 0 1 0 0 KCNJ6 3763 broad.mit.edu 37 21 38997475 38997475 + Nonsense_Mutation SNP C C A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr21:38997475C>A ENST00000400482.3 - 4 1847 c.1258G>T c.(1258-1260)Gaa>Taa p.E420* KCNJ6_ENST00000288309.6_Nonsense_Mutation_p.E420* NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 420 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) ACTTTGGATTCATTCTCCAGG 0.448000 23 152 6.21321e-17 6.48335e-17 1 1 0 ZNF318 24149 broad.mit.edu 37 6 43323546 43323546 + Missense_Mutation SNP C C T rs147691068 TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr6:43323546C>T ENST00000361428.2 - 4 1603 c.1526G>A c.(1525-1527)cGc>cAc p.R509H ZNF318_ENST00000318149.3_Missense_Mutation_p.R509H NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 509 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCTCAGAATGCGGGAAAAACC 0.488000 7 337 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25783895 25783895 + Missense_Mutation SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr4:25783895C>T ENST00000399878.3 - 15 2548 c.2426G>A c.(2425-2427)gGc>gAc p.G809D SEL1L3_ENST00000502949.1_Missense_Mutation_p.G656D|SEL1L3_ENST00000264868.5_Missense_Mutation_p.G774D NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 809 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 AGGGAAGATGCCATCCAAATG 0.443000 4 123 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47855502 47855502 + Missense_Mutation SNP C C A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr20:47855502C>A ENST00000371764.4 + 15 1806 c.1797C>A c.(1795-1797)ttC>ttA p.F599L ZNFX1_ENST00000371754.4_Silent_p.R1254R|ZNFX1_ENST00000469991.1_5'UTR|DDX27_ENST00000484427.1_3'UTR NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 599 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCCTCAAATTCCGGGACAAGA 0.488000 3 47 1 1 1 1 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 29 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176927523 176927523 + Missense_Mutation SNP C C A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr1:176927523C>A ENST00000367654.2 - 10 1731 c.1718G>T c.(1717-1719)tGc>tTc p.C573F ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.C565F|ASTN1_ENST00000367657.3_Missense_Mutation_p.C565F|ASTN1_ENST00000424564.2_Missense_Mutation_p.C565F O14525 ASTN1_HUMAN astrotactin 1 573 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCCGTCTTGCACTTTGCTGA 0.532000 6 28 0.00198382 0.00202603 1 1 0 PCDHB8 0 broad.mit.edu 37 5 140558697 140558697 + Missense_Mutation SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr5:140558697C>T ENST00000239444.2 + 1 1327 c.1082C>T c.(1081-1083)gCg>gTg p.A361V NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 361 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A361V(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGAGAATGCGCCTGAAACT 0.448000 5 397 0 0 1 0 0 IL12B 3593 broad.mit.edu 37 5 158753717 158753717 + Missense_Mutation SNP T T A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr5:158753717T>A ENST00000231228.2 - 2 529 c.74A>T c.(73-75)gAa>gTa p.E25V NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 25 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTCTTCAGTTCCCATATGGC 0.502000 6 33 0 0 1 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186572353 186572353 + Missense_Mutation SNP G G A rs144526209 TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr3:186572353G>A ENST00000412955.2 + 3 736 c.595G>A c.(595-597)Ggc>Agc p.G199S ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G199S|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G199S|ADIPOQ-AS1_ENST00000422718.1_RNA Q15848 ADIPO_HUMAN adiponectin, C1Q and collagen domain containing 199 C1q. brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2) 16 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) CCAGGCCTCCGGCTCTGTGCT 0.502000 18 30 0 0 1 0 0 CLP1 10978 broad.mit.edu 37 11 57428325 57428325 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr11:57428325G>A ENST00000533682.1 + 3 1420 c.695G>A c.(694-696)gGc>gAc p.G232D CLP1_ENST00000302731.4_Missense_Mutation_p.G168D|CLP1_ENST00000525602.1_Missense_Mutation_p.G232D|CLP1_ENST00000529430.1_Missense_Mutation_p.G243D Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 232 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 AACACCTGTGGCTGGGTCAAG 0.488000 16 92 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26506848 26506848 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr10:26506848G>A ENST00000376261.3 + 3 717 c.214G>A c.(214-216)Gcc>Acc p.A72T GAD2_ENST00000259271.3_Missense_Mutation_p.A72T NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 72 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ccggAAGGCCGCCTGCGCCTG 0.692000 4 17 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345723 33345723 + Silent SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr20:33345723C>T ENST00000374796.2 - 8 3398 c.828G>A c.(826-828)caG>caA p.Q276Q NCOA6_ENST00000359003.2_Silent_p.Q276Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 276 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgttgttgctgctgctgct 0.537000 3 28 0 0 1 0 0 DCTN4 51164 broad.mit.edu 37 5 150095125 150095125 + Splice_Site SNP A A G TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr5:150095125A>G ENST00000447998.2 - 12 1285 c.e12+1 DCTN4_ENST00000424236.1_Splice_Site|DCTN4_ENST00000446090.2_Splice_Site NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGATCACTCACTCAGGATCG 0.428000 4 30 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56700278 56700278 + Missense_Mutation SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr17:56700278C>T ENST00000389934.3 - 4 464 c.347G>A c.(346-348)cGa>cAa p.R116Q TEX14_ENST00000349033.5_Missense_Mutation_p.R116Q|TEX14_ENST00000240361.8_Missense_Mutation_p.R116Q NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 116 cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATCGTGGAGTCGCAGGTCACC 0.577000 12 43 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765279 19765279 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr7:19765279G>A ENST00000405844.1 - 3 1012 c.317C>T c.(316-318)gCc>gTc p.A106V TMEM196_ENST00000422233.1_Missense_Mutation_p.A38V|TMEM196_ENST00000433641.1_Missense_Mutation_p.A38V|TMEM196_ENST00000405764.3_Missense_Mutation_p.A106V|TMEM196_ENST00000493519.1_Missense_Mutation_p.A38V Q5HYL7 TM196_HUMAN transmembrane protein 196 112 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 AGACATGGAGGCAAGGTGCAG 0.522000 3 51 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129155027 129155027 + Missense_Mutation SNP G G C TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chrX:129155027G>C ENST00000540052.1 + 4 3553 c.3509G>C c.(3508-3510)gGa>gCa p.G1170A BCORL1_ENST00000303743.5_Missense_Mutation_p.G1170A|BCORL1_ENST00000359304.2_Missense_Mutation_p.G1170A|BCORL1_ENST00000218147.7_Missense_Mutation_p.G1170A NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1170 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TCAGATTCAGGAAAAGAGCAC 0.587000 3 12 0 0 1 0 0 CLCN7 1186 broad.mit.edu 37 16 1498382 1498382 + Missense_Mutation SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr16:1498382C>T ENST00000382745.4 - 21 2592 c.1987G>A c.(1987-1989)Gtg>Atg p.V663M CLCN7_ENST00000262318.8_Missense_Mutation_p.V639M|CLCN7_ENST00000448525.1_Missense_Mutation_p.V639M NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 663 CBS 1. integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) TGCTCCACCACGGGGAAGCCG 0.617000 6 25 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 3 20 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82837393 82837393 + Silent SNP T T A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr5:82837393T>A ENST00000265077.3 + 8 9136 c.8571T>A c.(8569-8571)tcT>tcA p.S2857S VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.S1870S|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2857 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCGGCTCATCTGTAATGTCCC 0.478000 3 70 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 3 17 0 0 1 0 0 BIVM 54841 broad.mit.edu 37 13 103468831 103468831 + Translation_Start_Site SNP T T G TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr13:103468831T>G ENST00000448849.2 + 0 527 BIVM_ENST00000257336.1_Missense_Mutation_p.Y178D|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.I149R|BIVM_ENST00000419638.1_Missense_Mutation_p.Y178D NM_001159596.1 NP_001153068.1 basic, immunoglobulin-like variable motif containing endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1) 25 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAAGGGAAGATATCAGAAGGA 0.328000 9 54 0 0 1 0 0 SLC6A15 55117 broad.mit.edu 37 12 85255651 85255651 + Missense_Mutation SNP A A T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr12:85255651A>T ENST00000266682.5 - 12 2494 c.1953T>A c.(1951-1953)aaT>aaA p.N651K SLC6A15_ENST00000309283.7_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.N544K NM_182767.5 NP_877499.1 Q9H2J7 S6A15_HUMAN solute carrier family 6 (neutral amino acid transporter), member 15 651 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 44 CAGATGCTAAATTACCAGAAC 0.443000 4 137 0 0 1 0 0 MZT1 440145 broad.mit.edu 37 13 73293170 73293170 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr13:73293170G>A ENST00000377818.3 - 2 229 c.145C>T c.(145-147)Cgg>Tgg p.R49W NM_001071775.2 NP_001065243.1 Q08AG7 MZT1_HUMAN mitotic spindle organizing protein 1 49 gamma-tubulin complex localization centrosome|gamma-tubulin ring complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 TCACAAAGCCGTACACAAATA 0.353000 4 226 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 4 56 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106937890 106937890 + Silent SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr10:106937890C>T ENST00000369701.3 + 14 2195 c.1968C>T c.(1966-1968)gaC>gaT p.D656D SORCS3_ENST00000369699.4_Intron NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 656 integral to membrane neuropeptide receptor activity p.D656D(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TCTTTGTTGACGGGGCTCTGG 0.473000 10 40 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8317916 8317916 + Silent SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr9:8317916G>A ENST00000381196.4 - 43 6240 c.5697C>T c.(5695-5697)gcC>gcT p.A1899A PTPRD_ENST00000397611.3_Silent_p.A1489A|PTPRD_ENST00000360074.4_Silent_p.A1886A|PTPRD_ENST00000397617.3_Silent_p.A1492A|PTPRD_ENST00000358503.5_Silent_p.A1877A|PTPRD_ENST00000540109.1_Silent_p.A1899A|PTPRD_ENST00000537002.1_Silent_p.A1489A|PTPRD_ENST00000486161.1_Silent_p.A1492A|PTPRD_ENST00000356435.5_Silent_p.A1899A|PTPRD_ENST00000355233.5_Silent_p.A1493A|PTPRD_ENST00000397606.3_Silent_p.A1492A NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1899 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) ACTCTAGTGCGGCACGATAGG 0.423000 TSP Lung(15;0.13) 12 89 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27799861 27799861 + Missense_Mutation SNP A A T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr2:27799861A>T ENST00000408964.2 + 1 473 c.422A>T c.(421-423)tAt>tTt p.Y141F NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 141 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CAGCCAAAGTATCAAATCCCT 0.378000 13 62 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34102839 34102839 + Nonsense_Mutation SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr15:34102839C>T ENST00000389232.4 + 71 10256 c.10186C>T c.(10186-10188)Cga>Tga p.R3396* RYR3_ENST00000415757.3_Nonsense_Mutation_p.R3391* NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3396 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CGCAAAATCGCGATACAGCCA 0.547000 8 43 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 7 78 0 0 1 0 0 C2orf73 129852 broad.mit.edu 37 2 54570968 54570968 + Missense_Mutation SNP C C T TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr2:54570968C>T ENST00000398634.2 + 3 388 c.346C>T c.(346-348)Cca>Tca p.P116S C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.P58S NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 116 breast(2) 2 ACTGGTTTTGCCAGTCAAACA 0.428000 3 50 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436082 56436082 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr8:56436082G>A ENST00000327381.5 + 3 1349 c.1249G>A c.(1249-1251)Gtc>Atc p.V417I NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 417 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CTTCTGGATCGTCCACTGTGA 0.483000 28 87 0 0 1 0 0 UFL1 23376 broad.mit.edu 37 6 96990865 96990865 + Missense_Mutation SNP G G A TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr6:96990865G>A ENST00000369278.4 + 12 1441 c.1375G>A c.(1375-1377)Gat>Aat p.D459N NM_015323.4 NP_056138.1 O94874 UFL1_HUMAN UFM1-specific ligase 1 459 negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation endoplasmic reticulum|nucleus protein binding|UFM1 conjugating enzyme activity TGATGATAGTGATGATGAATC 0.378000 20 47 0 0 1 0 0 DDX59 83479 broad.mit.edu 37 1 200613480 200613480 + Frame_Shift_Del DEL C C - TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr1:200613480delC ENST00000331314.6 - 8 1975 c.1762delG c.(1762-1764)aafs p.E588fs DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron NM_001031725.4 NP_001026895.2 Q5T1V6 DDX59_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 588 intracellular ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 TTCTGTTGTTCCTTTCTCTTC 0.368 13 81 --- --- --- --- AC019185.4 0 broad.mit.edu 37 2 209381652 209381652 + RNA DEL C C - TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr2:209381652delC ENST00000424628.1 + 0 103 ATCAACAACTCTCTGCTGGTG 0.502 2 4 --- --- --- --- MCTP1 79772 broad.mit.edu 37 5 94288922 94288922 + Splice_Site DEL C C - TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr5:94288922delC ENST00000515393.1 - 3 981 c.e3+1 MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site|MCTP1_ENST00000429576.2_Splice_Site NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AAATGGCTCACCTTTATATAC 0.363 8 50 --- --- --- --- SEC63 11231 broad.mit.edu 37 6 108214774 108214774 + Frame_Shift_Del DEL T T - TCGA-KK-A8IM-01A-11D-A364-08 TCGA-KK-A8IM-11A-11D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx e8a17b3d-a5f6-48e8-b161-b9b6a528c3e6 ec655621-f470-4bca-ad72-e570cd3c3a42 g.chr6:108214774delT ENST00000369002.4 - 16 1765 c.1586delA c.(1585-1587)agfs p.K530fs NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 530 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.K529fs*4(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TAAAGGTTTCTTTTTTTTTGA 0.368 7 132 --- --- --- ---