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 MTHFR 4524 broad.mit.edu 37 1 11855381 11855381 + Missense_Mutation SNP C C T TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr1:11855381C>T ENST00000376592.1 - 5 933 c.805G>A c.(805-807)Gtg>Atg p.V269M MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 269 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding p.V269M(1) NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GACAGCTTCACAAGCTGCCGA 0.582 19 44 --- --- --- --- PROX1 5629 broad.mit.edu 37 1 214171237 214171237 + Silent SNP C C T TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr1:214171237C>T ENST00000366958.4 + 2 1967 c.1359C>T c.(1357-1359)tcC>tcT p.S453S PROX1_ENST00000498508.2_Silent_p.S453S|PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 453 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding p.S453S(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AGTCTGCCTCCGGCCCTGCCG 0.647 27 85 --- --- --- --- LRRTM4 80059 broad.mit.edu 37 2 76975914 76975914 + Silent SNP G G A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr2:76975914G>A ENST00000409911.1 - 3 1906 c.1683C>T c.(1681-1683)agC>agT p.S561S LRRTM4_ENST00000409093.1_Silent_p.S560S|LRRTM4_ENST00000409884.1_Silent_p.S560S NM_001134745.1|NM_001282924.1 NP_001128217.1|NP_001269853.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 560 integral to membrane p.S560S(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CCAGGCCGGGGCTTTCGTCCT 0.587 54 165 --- --- --- --- PTCD3 55037 broad.mit.edu 37 2 86360495 86360495 + Missense_Mutation SNP G G A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr2:86360495G>A ENST00000254630.7 + 19 1545 c.1479G>A c.(1477-1479)atG>atA p.M493I NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 493 mitochondrion protein binding p.M493I(1) NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 CCCAAACAATGATACATCTTC 0.373 16 309 --- --- --- --- EFHB 151651 broad.mit.edu 37 3 19924217 19924217 + Missense_Mutation SNP G G C TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr3:19924217G>C ENST00000295824.9 - 12 2314 c.2153C>G c.(2152-2154)cCc>cGc p.P718R EFHB_ENST00000344838.4_Missense_Mutation_p.P588R NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 718 signal transduction proteinaceous extracellular matrix calcium ion binding p.P718R(2)|p.P716R(1) breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 ACCACAAATGGGGTAACCTAG 0.428 11 31 --- --- --- --- BSN 8927 broad.mit.edu 37 3 49698154 49698154 + Missense_Mutation SNP G G A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr3:49698154G>A ENST00000296452.4 + 6 8990 c.8876G>A c.(8875-8877)cGc>cAc p.R2959H NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2959 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.R2959H(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACCAAACTGCGCAAGAAGCAG 0.602 4 31 --- --- --- --- PIK3CA 5290 broad.mit.edu 37 3 178927980 178927980 + Missense_Mutation SNP T T C rs121913272 TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr3:178927980T>C ENST00000263967.3 + 8 1415 c.1258T>C c.(1258-1260)Tgt>Cgt p.C420R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 420 C2 PI3K-type. C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.C420R(40) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TAAGGAACACTGTCCATTGGC 0.328 C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 5 205 --- --- --- --- RREB1 6239 broad.mit.edu 37 6 7230059 7230059 + Missense_Mutation SNP G G A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr6:7230059G>A ENST00000379938.2 + 10 2264 c.1727G>A c.(1726-1728)cGg>cAg p.R576Q RREB1_ENST00000334984.6_Missense_Mutation_p.R576Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R576Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R576Q NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 576 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding p.R576Q(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCGGCCACGCGGCTCTCCCTG 0.711 4 13 --- --- --- --- URGCP 55665 broad.mit.edu 37 7 43918497 43918497 + Missense_Mutation SNP C C A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr7:43918497C>A ENST00000336086.6 - 4 2672 c.436G>T c.(436-438)Gcc>Tcc p.A146S URGCP_ENST00000443736.1_Missense_Mutation_p.A146S|URGCP_ENST00000447717.3_Missense_Mutation_p.A146S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000453200.1_Missense_Mutation_p.A189S Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 189 cell cycle centrosome|nucleus GTP binding p.A146S(1) breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AGCAGCAGGGCACAGAGAAGG 0.532 21 54 --- --- --- --- LCN2 3934 broad.mit.edu 37 9 130914560 130914560 + Missense_Mutation SNP A A G TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr9:130914560A>G ENST00000540948.1 + 5 647 c.574A>G c.(574-576)Atc>Gtc p.I192V LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000373017.1_Missense_Mutation_p.I192V|LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000373013.2_Missense_Mutation_p.I194V|LCN2_ENST00000470902.1_3'UTR P80188 NGAL_HUMAN lipocalin 2 192 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity p.I192V(1) central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1) 8 CCCTGTCCCAATCGGTAATGG 0.562 23 48 --- --- --- --- ACER3 55331 broad.mit.edu 37 11 76730798 76730798 + Missense_Mutation SNP T T G TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr11:76730798T>G ENST00000532485.1 + 10 832 c.728T>G c.(727-729)cTg>cGg p.L243R ACER3_ENST00000526597.1_Missense_Mutation_p.L148R|ACER3_ENST00000538157.1_Missense_Mutation_p.L201R|ACER3_ENST00000533873.1_Missense_Mutation_p.L206R|ACER3_ENST00000544113.1_Missense_Mutation_p.L110R NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 243 ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity p.L243R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 ACACTTTACCTGAGATATAGG 0.428 35 193 --- --- --- --- BANP 54971 broad.mit.edu 37 16 88061088 88061088 + Splice_Site SNP G G C TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr16:88061088G>C ENST00000393207.1 + 8 1092 c.e8-1 BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000479780.2_Splice_Site|BANP_ENST00000393208.2_Splice_Site NM_001173543.1 NP_001167014.1 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.?(2) NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(80;0.00551) TGTCCTTCCAGGTCACCTTTT 0.612 10 111 --- --- --- --- CXCL16 58191 broad.mit.edu 37 17 4638741 4638741 + Missense_Mutation SNP G G T TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr17:4638741G>T ENST00000293778.6 - 4 843 c.421C>A c.(421-423)Cca>Aca p.P141T CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000576153.1_5'UTR NM_022059.2 NP_071342.2 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 122 lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 TGAGAAATTGGGGGGCTGGTA 0.547 3 48 --- --- --- --- PPP4R1 9989 broad.mit.edu 37 18 9547949 9547949 + Splice_Site SNP G G C TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr18:9547949G>C ENST00000400556.3 - 20 2764 c.2691C>G c.(2689-2691)gaC>gaG p.D897E PPP4R1_ENST00000400555.3_Splice_Site_p.D880E NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 897 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity p.D897E(1) large_intestine(1)|skin(2) 3 CCAAGAAATAGTCTGGAAATG 0.478 24 41 --- --- --- --- PIEZO2 63895 broad.mit.edu 37 18 10671739 10671739 + Missense_Mutation SNP C C T TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr18:10671739C>T ENST00000302079.6 - 51 7854 c.7855G>A c.(7855-7857)Ggg>Agg p.G2619R PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2707R|PIEZO2_ENST00000503781.3_Missense_Mutation_p.G2682R|PIEZO2_ENST00000538948.1_Missense_Mutation_p.G639R|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.G474R Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2682 integral to membrane ion channel activity p.G2682R(1)|p.G474R(1) ACAAATTTCCCAATCACAAGG 0.333 42 132 --- --- --- --- COMP 1311 broad.mit.edu 37 19 18898325 18898325 + Silent SNP C C G TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr19:18898325C>G ENST00000542601.2 - 9 1400 c.1011G>C c.(1009-1011)gcG>gcC p.A337A COMP_ENST00000425807.1_Silent_p.A317A|COMP_ENST00000222271.2_Silent_p.A370A P49747 COMP_HUMAN cartilage oligomeric matrix protein 370 anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding p.A370A(1) breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CGTCGTCGCACGCATCGCCCC 0.697 39 149 --- --- --- --- KIF16B 55614 broad.mit.edu 37 20 16347999 16347999 + Missense_Mutation SNP A A C TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr20:16347999A>C ENST00000408042.1 - 23 4128 c.3971T>G c.(3970-3972)gTa>gGa p.V1324G KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron NM_001199866.1 NP_001186795.1 Q96L93 KI16B_HUMAN kinesin family member 16B 0 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.V1324G(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GACTAGTTCTACTGTTGACAC 0.433 47 295 --- --- --- --- SAMSN1 64092 broad.mit.edu 37 21 15884893 15884893 + Splice_Site SNP T T A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr21:15884893T>A ENST00000285670.2 - 5 659 c.485A>T c.(484-486)gAt>gTt p.D162V SAMSN1_ENST00000400566.1_Splice_Site_p.D94V|SAMSN1_ENST00000400564.1_Intron NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 94 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding p.D162V(1)|p.D94V(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) ATCTTCCTCATCCTTCAGAAA 0.413 55 146 --- --- --- --- FAM47B 170062 broad.mit.edu 37 X 34961794 34961794 + Silent SNP T T C TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chrX:34961794T>C ENST00000329357.5 + 1 882 c.846T>C c.(844-846)caT>caC p.H282H NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 282 Pro-rich. p.H282H(2) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GAGCGTCCCATCTCTGCCCGG 0.622 32 25 --- --- --- --- XK 7504 broad.mit.edu 37 X 37553558 37553558 + Missense_Mutation SNP A A G TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chrX:37553558A>G ENST00000378616.3 + 2 468 c.265A>G c.(265-267)Atc>Gtc p.I89V TM4SF2_ENST00000465127.1_Intron NM_021083.2 NP_066569.1 P51811 XK_HUMAN X-linked Kx blood group (McLeod syndrome) 89 amino acid transport integral to membrane protein binding|transporter activity p.I89V(1) breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(315;0.175) AGTCTTCTGCATCTACTTTCA 0.408 19 26 --- --- --- --- MT-ND5 4540 broad.mit.edu 37 M 13711 13711 + Missense_Mutation SNP G G A TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chrM:13711G>A ENST00000361567.2 + 1 1375 c.1375G>A c.(1375-1377)Gcc>Acc p.A459T P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 459 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AACGCCTGGCAGCCGGAAGCC 0.483 3 3 --- --- --- --- IL6ST 3572 broad.mit.edu 37 5 55250760 55250772 + Frame_Shift_Del DEL CATTCCACCCAAA CATTCCACCCAAA - TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr5:55250760_55250772delCATTCCACCCAAA ENST00000381298.2 - 11 1628_1640 c.1316_1328delTTTGGGTGGAATG c.(1315-1329)ctttgggtggaatggfs p.LWVEW439fs IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 439 Fibronectin type-III 4. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TGGAGTAGTCCATTCCACCCAAAGCATGTTATC 0.347 O hepatocellular ca 45 290 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31590596 31590598 + In_Frame_Del DEL GGG GGG - TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr6:31590596_31590598delGGG ENST00000376033.2 + 2 264_266 c.30_32delGGG c.(28-33)aaggga>aaa p.G11del PRRC2A_ENST00000469577.1_Intron|PRRC2A_ENST00000376007.4_In_Frame_Del_p.G11del NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 11 cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CGACTGCCAAGGGAAAGGATGGA 0.547 46 298 --- --- --- --- PLEKHA2 59339 broad.mit.edu 37 8 38793568 38793569 + Splice_Site DEL GG GG - TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr8:38793568_38793569delGG ENST00000420274.1 + 3 432 c.198delGG c.(196-198)aag>aa p.K66fs PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000521746.1_Splice_Site_p.K66fs NM_021623.1 NP_067636.1 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 66 PH 1. positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) ACATCTCGAAGGTAATGTTGAC 0.460 24 203 --- --- --- --- PLIN3 10226 broad.mit.edu 37 19 4847750 4847750 + Frame_Shift_Del DEL G G - TCGA-EJ-5526-01A-01D-1576-08 TCGA-EJ-5526-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 28436e84-7985-4676-a36c-4b18f064db9a 764d600c-bbe7-4996-8f5d-4ec9a3adc6af g.chr19:4847750delG ENST00000221957.4 - 6 963 c.787delC c.(787-789)cagfs p.Q263fs PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs|PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q251fs NM_001164189.1|NM_001164194.1|NM_005817.4 NP_001157661.1|NP_001157666.1|NP_005808.3 O60664 PLIN3_HUMAN perilipin 3 263 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) TGTGCCCTCTGCTTGGTGGCT 0.662 9 16 --- --- --- ---