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 RNF19B 127544 broad.mit.edu 37 1 33402454 33402454 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr1:33402454C>T uc010oho.1 - 9 2152 c.2152G>A c.(2152-2154)GAG>AAG p.E718K RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Missense_Mutation_p.E717K NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 718 integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GTTTGTCCCTCGGCTAGGGCA 0.567000 SPTA1 6708 broad.mit.edu 37 1 158606544 158606544 + Missense_Mutation SNP A A C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr1:158606544A>C uc001fst.1 - 37 5396 c.5197T>G c.(5197-5199)TTG>GTG p.L1733V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1733 Spectrin 17. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACTCGTATCAACTTCTCCCTA 0.473000 FCRLA 84824 broad.mit.edu 37 1 161682978 161682978 + Silent SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr1:161682978G>A uc001gbe.2 + 6 1199 c.957G>A c.(955-957)CCG>CCA p.P319P FCRLA_uc001gbd.2_Silent_p.P313P|FCRLA_uc001gbf.2_Silent_p.P224P|FCRLA_uc001gbg.2_Silent_p.P173P|FCRLA_uc009wuo.2_Silent_p.P179P|FCRLA_uc009wup.2_Silent_p.P129P|FCRLA_uc009wuq.2_Silent_p.P78P NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 296 Pro-rich. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) TGCCTCCGCCGCCAACCCCAT 0.572000 OR2L8 391190 broad.mit.edu 37 1 248112415 248112415 + Missense_Mutation SNP C C A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr1:248112415C>A uc001idt.1 + 1 256 c.256C>A c.(256-258)CAT>AAT p.H86N OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGATTTTCTGCATGGAAACAA 0.448000 RET 5979 broad.mit.edu 37 10 43612057 43612057 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr10:43612057G>A uc001jal.2 + 12 2352 c.2162G>A c.(2161-2163)CGG>CAG p.R721Q RET_uc001jak.1_Missense_Mutation_p.R721Q|RET_uc010qez.1_Missense_Mutation_p.R467Q NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 721 Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) GAATTCCCTCGGAAGAACTTG 0.512000 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma DLG5 9231 broad.mit.edu 37 10 79581291 79581291 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr10:79581291G>A uc001jzk.2 - 15 3021 c.2951C>T c.(2950-2952)ACA>ATA p.T984I DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.T588I NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 984 Pro-rich. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TTTGGGGGGTGTCTGGGGGCG 0.552000 NRG3 10718 broad.mit.edu 37 10 84498378 84498378 + Silent SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr10:84498378G>A uc001kco.2 + 3 1026 c.999G>A c.(997-999)CCG>CCA p.P333P NRG3_uc010qlz.1_Silent_p.P333P|NRG3_uc001kcp.2_Silent_p.P112P|NRG3_uc001kcq.2_5'UTR NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 333 Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AATTTCTGCCGAAAACTGATT 0.398000 GRID1 2894 broad.mit.edu 37 10 87487712 87487712 + Missense_Mutation SNP A A G TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr10:87487712A>G uc001kdl.1 - 10 1534 c.1433T>C c.(1432-1434)CTG>CCG p.L478P GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.L49P NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 478 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TTTAAAGCCCAGAGCCTTGGC 0.537000 Multiple Myeloma(13;0.14) OR52J3 119679 broad.mit.edu 37 11 5068425 5068425 + Missense_Mutation SNP C C T rs142062445 byFrequency TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr11:5068425C>T uc010qyv.1 + 1 670 c.670C>T c.(670-672)CGT>TGT p.R224C NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 224 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTACATTCTCCGTGCTGTCTT 0.448000 HBG2 3048 broad.mit.edu 37 11 5275655 5275655 + Missense_Mutation SNP A A G TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr11:5275655A>G uc001mai.1 - 2 619 c.182T>C c.(181-183)GTC>GCC p.V61A HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.V61A NM_000559 NP_000550 P69892 HBG2_HUMAN A-gamma globin 61 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGTGCCTTGACTTTGGGGTT 0.537000 PGR 5241 broad.mit.edu 37 11 100922231 100922231 + Missense_Mutation SNP A A T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr11:100922231A>T uc001pgh.2 - 5 3024 c.2281T>A c.(2281-2283)TTT>ATT p.F761I PGR_uc001pgg.2_Missense_Mutation_p.F142I|PGR_uc001pgi.2_Missense_Mutation_p.F659I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 761 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCTAGACCAAACACCATTAAG 0.348000 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr17:7578457C>T uc002gim.2 - 5 667 c.473G>A c.(472-474)CGC>CAC p.R158H TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.2_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.1_Missense_Mutation_p.R119H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) ATP1A3 478 broad.mit.edu 37 19 42490135 42490135 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr19:42490135G>A uc002osg.2 - 6 641 c.487C>T c.(487-489)CGG>TGG p.R163W ATP1A3_uc010xwf.1_Missense_Mutation_p.R174W|ATP1A3_uc010xwg.1_Missense_Mutation_p.R133W|ATP1A3_uc010xwh.1_Missense_Mutation_p.R176W|ATP1A3_uc002osh.2_Missense_Mutation_p.R163W NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 163 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 TCACCTTCCCGGATCACCAGG 0.622000 C20orf26 26074 broad.mit.edu 37 20 20257982 20257982 + Silent SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr20:20257982C>T uc002wru.2 + 22 2752 c.2676C>T c.(2674-2676)GCC>GCT p.A892A C20orf26_uc010zse.1_Silent_p.A872A|C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 892 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CGCTAGGAGCCGCCGGAGTCA 0.667000 GK2 2712 broad.mit.edu 37 4 80328138 80328138 + Missense_Mutation SNP T T C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr4:80328138T>C uc003hlu.2 - 1 1235 c.1217A>G c.(1216-1218)GAG>GGG p.E406G NM_033214 NP_149991 Q14410 GLPK2_HUMAN glycerol kinase 2 406 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity ovary(2)|skin(2) 4 TTCCAAAATCTCTCGGGTTTG 0.443000 RXFP1 59350 broad.mit.edu 37 4 159493865 159493865 + Missense_Mutation SNP G G T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr4:159493865G>T uc003ipz.2 + 2 147 c.65G>T c.(64-66)GGA>GTA p.G22V RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.G22V|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.G22V|RXFP1_uc010iqm.2_Missense_Mutation_p.G22V|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 22 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) CATGGGGGTGGACAGGATGTC 0.488000 PCDHB9 56127 broad.mit.edu 37 5 140568790 140568790 + Silent SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr5:140568790C>T uc003liw.1 + 3 1899 c.1899C>T c.(1897-1899)CGC>CGT p.R633R NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 633 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGCGAGCGCGACGCAGCCA 0.682000 PCDHGB3 56102 broad.mit.edu 37 5 140751697 140751697 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr5:140751697C>T uc003ljw.1 + 1 1736 c.1736C>T c.(1735-1737)CCG>CTG p.P579L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.P579L|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 579 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATATGGTGCCGCGCTCTGCA 0.642000 PCDHGA12 26025 broad.mit.edu 37 5 140810837 140810837 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr5:140810837G>A uc003lkt.1 + 1 680 c.511G>A c.(511-513)GAG>AAG p.E171K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.E171K NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 171 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGAGCTACGAGCTCAGCCC 0.527000 ZNF318 24149 broad.mit.edu 37 6 43323429 43323429 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr6:43323429G>A uc003oux.2 - 4 1721 c.1643C>T c.(1642-1644)GCA>GTA p.A548V ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 548 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TACGGATTCTGCCTTTAAATC 0.478000 PRDM1 639 broad.mit.edu 37 6 106555018 106555018 + Missense_Mutation SNP C C T TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr6:106555018C>T uc003prd.2 + 7 2369 c.2135C>T c.(2134-2136)GCG>GTG p.A712V PRDM1_uc003pre.2_Missense_Mutation_p.A578V NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 712 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AACTGCGCTGCGGCCCCGGCG 0.582000 D|N|Mis|F|S DLBCL WBSCR17 64409 broad.mit.edu 37 7 71175811 71175811 + Silent SNP T T C TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr7:71175811T>C uc003tvy.2 + 10 1566 c.1566T>C c.(1564-1566)CCT>CCC p.P522P WBSCR17_uc003tvz.2_Silent_p.P221P NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 522 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CACTCCTCCCTGACACCCGCT 0.612000 TG 7038 broad.mit.edu 37 8 134108585 134108585 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr8:134108585G>A uc003ytw.2 + 43 7581 c.7540G>A c.(7540-7542)GAC>AAC p.D2514N TG_uc010mdw.2_Missense_Mutation_p.D1273N|TG_uc011ljb.1_Missense_Mutation_p.D883N|TG_uc011ljc.1_Missense_Mutation_p.D647N|SLA_uc003ytz.2_Intron|SLA_uc011lje.1_Intron|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Intron|SLA_uc010mea.2_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2514 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTCTCAGGACGACGGGCTCAT 0.562000 NHS 4810 broad.mit.edu 37 X 17744273 17744273 + Missense_Mutation SNP G G A TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chrX:17744273G>A uc004cxx.2 + 6 2322 c.1984G>A c.(1984-1986)GTG>ATG p.V662M NHS_uc011mix.1_Missense_Mutation_p.V683M|NHS_uc004cxy.2_Missense_Mutation_p.V506M|NHS_uc004cxz.2_Missense_Mutation_p.V485M|NHS_uc004cya.2_Missense_Mutation_p.V385M NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 662 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CAGTGTTTTCGTGACAGAGCA 0.517000 NKRF 55922 broad.mit.edu 37 X 118724855 118724855 + Missense_Mutation SNP G G A rs144370117 TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chrX:118724855G>A uc004erq.2 - 2 1186 c.533C>T c.(532-534)ACG>ATG p.T178M NKRF_uc004err.2_Missense_Mutation_p.T178M NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 178 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 GATTGTCGCCGTTAATTTTTC 0.398000 SPEF2 79925 broad.mit.edu 37 5 35694396 35694396 + Frame_Shift_Del DEL C C - TCGA-BR-A4IU-01A-22D-A25D-08 TCGA-BR-A4IU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx f0ced3b1-37d8-4846-86c1-33f0b064f628 332d8b81-8600-42ab-b80c-942c30d8f916 g.chr5:35694396delC uc003jjo.2 + 13 2017 c.1906delC c.(1906-1908)CAAfs p.Q636fs SPEF2_uc003jjq.3_Frame_Shift_Del_p.Q636fs|SPEF2_uc003jjp.1_Frame_Shift_Del_p.Q127fs NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 636 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAAGGATCCACAACATGTATT 0.323