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 CTSS 1520 broad.mit.edu 37 1 150727568 150727568 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr1:150727568C>T uc001evn.2 - 4 441 c.308G>A c.(307-309)AGA>AAA p.R103K CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.R103K NM_004079 NP_004070 P25774 CATS_HUMAN cathepsin S preproprotein 103 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity 0 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TGTGATATTTCTCTGCCACTG 0.353 ROBLD3 28956 broad.mit.edu 37 1 156025122 156025122 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr1:156025122C>T uc001fnb.3 + 2 301 c.137C>T c.(136-138)GCT>GTT p.A46V UBQLN4_uc001fna.2_5'Flank|UBQLN4_uc010pgx.1_5'Flank|ROBLD3_uc010pgy.1_Missense_Mutation_p.A46V NM_014017 NP_054736 Q9Y2Q5 LTOR2_HUMAN roadblock domain-containing protein 3 isoform 1 46 cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosomal membrane|Ragulator complex 0 CGGGTCACCGCTGCCATAGCC 0.572 PHRF1 57661 broad.mit.edu 37 11 607393 607393 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr11:607393C>T uc001lqe.2 + 14 2068 c.1937C>T c.(1936-1938)GCG>GTG p.A646V PHRF1_uc010qwc.1_Missense_Mutation_p.A645V|PHRF1_uc010qwd.1_Missense_Mutation_p.A644V|PHRF1_uc010qwe.1_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 646 RNA polymerase binding|zinc ion binding 0 GCCTCTGCCGCGTCTAAGATC 0.587 FAT3 120114 broad.mit.edu 37 11 92531786 92531786 + Silent SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr11:92531786C>T uc001pdj.3 + 9 5624 c.5607C>T c.(5605-5607)GTC>GTT p.V1869V NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1869 Cadherin 16.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCGTTGAAGTCAACATTGAGG 0.463 TCGA Ovarian(4;0.039) TRPC6 7225 broad.mit.edu 37 11 101323804 101323804 + Missense_Mutation SNP C A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr11:101323804C>A uc001pgk.3 - 13 3103 c.2678G>T c.(2677-2679)AGT>ATT p.S893I TRPC6_uc009ywy.2_Missense_Mutation_p.S777I NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 893 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATAGCGGAGACTTGAGATGTC 0.388 ANO2 57101 broad.mit.edu 37 12 5908717 5908717 + Silent SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr12:5908717C>T uc001qnm.2 - 10 1071 c.999G>A c.(997-999)GCG>GCA p.A333A NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 338 Cytoplasmic (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 CTCCATAGCGCGCCCATTCTT 0.418 LECT1 11061 broad.mit.edu 37 13 53307443 53307443 + Missense_Mutation SNP A G G TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr13:53307443A>G uc001vhf.2 - 3 376 c.265T>C c.(265-267)TCA>CCA p.S89P LECT1_uc001vhg.2_Missense_Mutation_p.S89P|LECT1_uc001vhh.2_Missense_Mutation_p.S116P NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 89 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) ATTTCCATTGACCCATCTTGT 0.363 TFDP1 7027 broad.mit.edu 37 13 114286001 114286001 + Missense_Mutation SNP C A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr13:114286001C>A uc001vtw.2 + 5 462 c.250C>A c.(250-252)CCC>ACC p.P84T TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Missense_Mutation_p.P84T|TFDP1_uc001vtx.2_5'Flank|TFDP1_uc010agx.2_Missense_Mutation_p.P84T NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 84 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) CCCACACACCCCCAGCACTCA 0.557 TSP Lung(29;0.18) WDR72 256764 broad.mit.edu 37 15 53908374 53908374 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr15:53908374C>T uc002acj.2 - 15 2071 c.2029G>A c.(2029-2031)GTT>ATT p.V677I WDR72_uc010bfi.1_Missense_Mutation_p.V677I NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 677 lung(1)|skin(1) 2 all cancers(107;0.0511) TGAAAGCCAACGTTACTCCAT 0.378 TLN2 83660 broad.mit.edu 37 15 63063321 63063321 + Silent SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr15:63063321C>T uc002alb.3 + 39 5355 c.5355C>T c.(5353-5355)GGC>GGT p.G1785G TLN2_uc002alc.3_Silent_p.G178G|TLN2_uc002ald.2_Silent_p.G178G NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1785 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 AAGAAGGTGGCGGAAACCCCA 0.507 AXIN1 8312 broad.mit.edu 37 16 339566 339566 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr16:339566G>A uc002cgp.1 - 10 2513 c.2336C>T c.(2335-2337)CCG>CTG p.P779L AXIN1_uc002cgq.1_Missense_Mutation_p.P743L NM_003502 NP_003493 O15169 AXIN1_HUMAN axin 1 isoform a 779 Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding breast(1)|liver(1) 2 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) GCTGTCACACGGCTGGGCACT 0.637 TEKT5 146279 broad.mit.edu 37 16 10788283 10788283 + Missense_Mutation SNP A G G TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr16:10788283A>G uc002czz.1 - 1 520 c.448T>C c.(448-450)TTC>CTC p.F150L NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 150 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 GACTTCCAGAAGCCAATGTCC 0.597 PKD1L2 114780 broad.mit.edu 37 16 81219137 81219137 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr16:81219137G>A uc002fgh.1 - 11 1957 c.1957C>T c.(1957-1959)CTC>TTC p.L653F PKD1L2_uc002fgj.2_Missense_Mutation_p.L653F NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 653 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GACACGTAGAGGCACTGCTCT 0.567 SLC13A2 9058 broad.mit.edu 37 17 26822743 26822743 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr17:26822743C>T uc002hbh.2 + 10 1446 c.1379C>T c.(1378-1380)GCC>GTC p.A460V SLC13A2_uc010wam.1_Missense_Mutation_p.A416V|SLC13A2_uc010wan.1_Missense_Mutation_p.A509V|SLC13A2_uc010wao.1_Missense_Mutation_p.A417V|SLC13A2_uc002hbi.2_Missense_Mutation_p.A389V NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 460 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCAGCCATTGCCATCATCCTC 0.607 GPS1 2873 broad.mit.edu 37 17 80011213 80011213 + Missense_Mutation SNP G A A rs146475501 TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr17:80011213G>A uc002kdl.1 + 2 142 c.97G>A c.(97-99)GTC>ATC p.V33I RFNG_uc002kdh.2_5'Flank|RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.V73I|GPS1_uc010dij.1_Missense_Mutation_p.V73I|GPS1_uc002kdm.1_Missense_Mutation_p.V17I|GPS1_uc002kdn.1_Missense_Mutation_p.V33I|GPS1_uc002kdo.1_Missense_Mutation_p.V33I|GPS1_uc010wvh.1_Missense_Mutation_p.V25I NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 33 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) TGCACCTGACGTCAACTACGT 0.667 TSPAN16 26526 broad.mit.edu 37 19 11408879 11408879 + Missense_Mutation SNP C T T rs138340787 TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr19:11408879C>T uc002mqv.1 + 2 281 c.131C>T c.(130-132)ACG>ATG p.T44M TSPAN16_uc002mqu.1_RNA NM_012466 NP_036598 Q9UKR8 TSN16_HUMAN transmembrane 4 superfamily member 16 44 Helical; (Potential). integral to membrane skin(1) 1 GCCTCTCTGACGAATGTCCTC 0.532 CALR 811 broad.mit.edu 37 19 13050871 13050871 + Silent SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr19:13050871C>T uc002mvu.2 + 4 482 c.402C>T c.(400-402)CCC>CCT p.P134P NM_004343 NP_004334 P27797 CALR_HUMAN calreticulin precursor 134 N-domain. cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCTAGGTCCCGACATCTGTG 0.502 PGLYRP2 114770 broad.mit.edu 37 19 15586693 15586693 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr19:15586693G>A uc002nbf.3 - 2 921 c.788C>T c.(787-789)CCC>CTC p.P263L PGLYRP2_uc002nbg.3_Missense_Mutation_p.P263L NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 263 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 AGATGCCTTGGGGTCCAAAAG 0.617 SPP2 6694 broad.mit.edu 37 2 234967547 234967547 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr2:234967547G>A uc002vvk.1 + 3 363 c.278G>A c.(277-279)AGG>AAG p.R93K SPP2_uc010fyl.1_Missense_Mutation_p.R13K NM_006944 NP_008875 Q13103 SPP24_HUMAN secreted phosphoprotein 2, 24kDa precursor 93 bone remodeling|skeletal system development extracellular region endopeptidase inhibitor activity 0 Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182) Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846) ACTACATGCAGGAAGGATTCT 0.453 ZNF337 26152 broad.mit.edu 37 20 25655873 25655873 + Frame_Shift_Del DEL G - - TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr20:25655873delG uc002wva.2 - 4 2573 c.2051delC c.(2050-2052)CCTfs p.P684fs uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Del_p.P652fs|ZNF337_uc002wvb.2_Frame_Shift_Del_p.P684fs|ZNF337_uc002wvc.2_Frame_Shift_Del_p.P684fs NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 684 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCAAACAAAAGGCTTCTCCTT 0.502 PABPC1L 80336 broad.mit.edu 37 20 43559261 43559261 + Nonsense_Mutation SNP T A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr20:43559261T>A uc010ggv.1 + 8 1215 c.1133T>A c.(1132-1134)TTG>TAG p.L378* PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank NM_001124756 NP_001118228 Q4VXU2 PAP1L_HUMAN poly(A)-binding protein, cytoplasmic 1-like 378 nucleotide binding|RNA binding ovary(1) 1 AAGGCCATCTTGACCAACCAG 0.627 ZNF717 100131827 broad.mit.edu 37 3 75790798 75790798 + Silent SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr3:75790798G>A uc011bgi.1 - 3 470 c.147C>T c.(145-147)GAC>GAT p.D49D ZNF717_uc003dpw.3_RNA NM_001128223 NP_001121695 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 49 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 CCAGCATCACGTCCCTGTACA 0.502 NFXL1 152518 broad.mit.edu 37 4 47886362 47886362 + Splice_Site SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr4:47886362C>T uc010igh.2 - 15 2093 c.1916_splice c.e15+1 p.M639_splice NFXL1_uc003gxp.2_Splice_Site_p.M639_splice|NFXL1_uc003gxq.3_Splice_Site|NFXL1_uc010igi.2_Splice_Site_p.M639_splice NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CTAATACTTACATAGGAATAG 0.368 FRAS1 80144 broad.mit.edu 37 4 79402982 79402982 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr4:79402982G>A uc003hlb.2 + 57 8908 c.8468G>A c.(8467-8469)CGC>CAC p.R2823H NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2818 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CCAGTTATCCGCCATGGTACT 0.468 CDH9 1007 broad.mit.edu 37 5 26902807 26902807 + Missense_Mutation SNP G T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr5:26902807G>T uc003jgs.1 - 7 1200 c.1031C>A c.(1030-1032)ACT>AAT p.T344N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 344 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CACTCTTAAAGTATAGAGCAT 0.328 PTCD2 79810 broad.mit.edu 37 5 71618025 71618025 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr5:71618025G>A uc003kcb.2 + 2 164 c.154G>A c.(154-156)GTG>ATG p.V52M MRPS27_uc003kca.3_5'Flank|MRPS27_uc003kbz.3_5'Flank|MRPS27_uc011cse.1_5'Flank|MRPS27_uc010iza.2_5'Flank|PTCD2_uc011csf.1_Translation_Start_Site|PTCD2_uc003kcc.2_Translation_Start_Site|PTCD2_uc011csg.1_Translation_Start_Site|PTCD2_uc011csh.1_Missense_Mutation_p.V52M|PTCD2_uc003kcd.2_RNA NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 52 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) TACAGATAATGTGGTGAAATT 0.284 VDAC1 7416 broad.mit.edu 37 5 133326760 133326760 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr5:133326760C>T uc003kyp.1 - 4 302 c.203G>A c.(202-204)GGC>GAC p.G68D VDAC1_uc003kyq.1_Missense_Mutation_p.G68D|VDAC1_uc003kyr.1_Missense_Mutation_p.G68D NM_003374 NP_003365 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 68 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) AAACGTCAGGCCGTACTCAGT 0.463 TAP2 6891 broad.mit.edu 37 6 32782892 32782892 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr6:32782892C>T uc011dqf.1 - 13 2233 c.2111G>A c.(2110-2112)AGC>AAC p.S704N HLA-DOB_uc003oca.2_Missense_Mutation_p.S97N|HLA-DOB_uc011dqg.1_Missense_Mutation_p.S97N NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family Error:Variant_position_missing_in_Q03519_after_alignment antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 GGCCTGTCTGCTCCTCTCCAA 0.592 FAM83B 222584 broad.mit.edu 37 6 54806575 54806575 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr6:54806575C>T uc003pck.2 + 5 2922 c.2806C>T c.(2806-2808)CGT>TGT p.R936C NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 936 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) TGTTTACAGTCGTTTTGAGCC 0.438 DDX56 54606 broad.mit.edu 37 7 44611974 44611974 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr7:44611974G>A uc003tlg.2 - 5 1260 c.617C>T c.(616-618)GCA>GTA p.A206V DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.A142V|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.A206V|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 206 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 CTCCTTGAGTGCTTGTACGTC 0.473 MAGI2 9863 broad.mit.edu 37 7 77756518 77756518 + Missense_Mutation SNP G T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr7:77756518G>T uc003ugx.2 - 19 3673 c.3419C>A c.(3418-3420)CCC>CAC p.P1140H MAGI2_uc003ugy.2_Missense_Mutation_p.P1126H|MAGI2_uc010ldx.1_Missense_Mutation_p.P733H NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 1140 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGGTACCTGGGGTTGTCTGTA 0.597 LAMB4 22798 broad.mit.edu 37 7 107746315 107746315 + Missense_Mutation SNP C T T TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr7:107746315C>T uc010ljo.1 - 8 901 c.817G>A c.(817-819)GAA>AAA p.E273K LAMB4_uc003vey.2_Missense_Mutation_p.E273K NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 273 Laminin EGF-like 1. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 GGGCGACATTCGCTAGCATGG 0.468 LGI3 203190 broad.mit.edu 37 8 22005999 22005999 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr8:22005999G>A uc003xav.2 - 8 1610 c.1321C>T c.(1321-1323)CGC>TGC p.R441C LGI3_uc010ltu.2_Missense_Mutation_p.R417C NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 441 EAR 5. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CCAATGTAGCGGCTGAGGCAC 0.657 NRG1 3084 broad.mit.edu 37 8 32599524 32599524 + Splice_Site SNP A G G TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr8:32599524A>G uc003xiv.2 + 7 1150 c.633_splice c.e7-2 p.K211_splice NRG1_uc003xip.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Splice_Site_p.K211_splice|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Splice_Site_p.K101_splice|NRG1_uc003xiy.2_Intron|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Splice_Site_p.K57_splice|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_Splice_Site|NRG1_uc003xja.2_Splice_Site_p.K14_splice NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TTTGCCCTCTAGGTGCCAACC 0.378 GML 2765 broad.mit.edu 37 8 143928002 143928002 + Missense_Mutation SNP G A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr8:143928002G>A uc003yxg.2 + 4 463 c.373G>A c.(373-375)GAT>AAT p.D125N NM_002066 NP_002057 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule 125 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane central_nervous_system(2) 2 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CATGTTACCCGATGAAGTAAC 0.418 RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - A A TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr9:5304560_5304561insA uc003zja.1 - 1 20_21 c.20_21insT c.(19-21)TTCfs p.F7fs RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 7 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 OR2K2 26248 broad.mit.edu 37 9 114090554 114090554 + Missense_Mutation SNP G A A rs117283259 byFrequency TCGA-28-2499-01A-01D-1494-08 TCGA-28-2499-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 28583f40-c3fc-4213-91c1-99d7d536551e bfeda2fa-2ff8-40d0-9c7d-9edd34d95451 g.chr9:114090554G>A uc011lwp.1 - 1 160 c.160C>T c.(160-162)CGC>TGC p.R54C NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 83 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTTTTAAGGCGTGAATCTAGG 0.433