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 HEPH 9843 broad.mit.edu 37 X 65411985 65411985 + Silent SNP A A C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:65411985A>C ENST00000519389.1 + 7 1418 c.1239A>C c.(1237-1239)gcA>gcC p.A413A HEPH_ENST00000343002.2_Silent_p.A359A|HEPH_ENST00000441993.2_Silent_p.A362A|HEPH_ENST00000419594.1_Silent_p.A362A|HEPH_ENST00000374727.3_Silent_p.A362A|HEPH_ENST00000336279.5_Silent_p.A92A Q9BQS7 HEPH_HUMAN hephaestin 359 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GCATGCAGGCACTCTACAAGG 0.488000 13 52 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10626068 10626068 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr20:10626068G>A ENST00000254958.5 - 16 2564 c.2049C>T c.(2047-2049)cgC>cgT p.R683R JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Silent_p.R524R NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 683 EGF-like 12; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TGACCAGGTCGCGACACGTGC 0.502000 Alagille Syndrome 18 89 0 0 1 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55623923 55623923 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr19:55623923G>A ENST00000263433.3 - 3 498 c.483C>T c.(481-483)gcC>gcT p.A161A PPP1R12C_ENST00000435544.2_Silent_p.A87A|PPP1R12C_ENST00000376393.2_Silent_p.A161A NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 161 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) TGTTGACGGCGGCGATGTTGG 0.731000 10 20 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595010 140595010 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr5:140595010G>A ENST00000341948.4 + 1 1502 c.1315G>A c.(1315-1317)Gtg>Atg p.V439M NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 439 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAATATGACCGTGCTGATCGC 0.547000 18 102 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53570870 53570870 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:53570870C>T ENST00000342160.3 - 72 11768 c.11311G>A c.(11311-11313)Gag>Aag p.E3771K HUWE1_ENST00000262854.6_Missense_Mutation_p.E3771K|HUWE1_ENST00000474288.1_5'UTR Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3771 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GCATCAGCCTCAGCCTCCAGC 0.517000 4 19 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22186712 22186712 + Missense_Mutation SNP C C T rs143523507 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr1:22186712C>T ENST00000374695.3 - 40 5051 c.4972G>A c.(4972-4974)Gtg>Atg p.V1658M NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1658 Laminin EGF-like 11. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGTTACCCACGTAACCTGGG 0.637000 4 26 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123482002 123482002 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr12:123482002C>T ENST00000280562.5 - 10 1547 c.1342G>A c.(1342-1344)Gat>Aat p.D448N PITPNM2_ENST00000392428.1_Missense_Mutation_p.D169N|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D448N|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D448N Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 448 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GTGTTAGCATCGCCCTTCTTG 0.682000 12 89 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39913429 39913429 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr19:39913429G>A ENST00000425673.1 + 16 1973 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E520K|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E579K|PLEKHG2_ENST00000409797.2_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 579 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGGCGACAGCGAAACCCTCAC 0.587000 4 57 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34519277 34519277 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr20:34519277G>A ENST00000374012.3 + 15 2340 c.2211G>A c.(2209-2211)aaG>aaA p.K737K PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 737 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) AGAATGCCAAGAAGATCGTGG 0.522000 7 81 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 56 0 0 1 0 0 BHLHB9 80823 broad.mit.edu 37 X 102004645 102004645 + Missense_Mutation SNP C C A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:102004645C>A ENST00000372735.1 + 4 1307 c.722C>A c.(721-723)gCa>gAa p.A241E BHLHB9_ENST00000447531.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000361229.4_Missense_Mutation_p.A241E|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A241E|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A241E Q6PI77 BHLH9_HUMAN basic helix-loop-helix domain containing, class B, 9 241 cytoplasm|nucleus binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CCATCTGAGGCAAGCCCTCCT 0.517000 16 151 6.31663e-08 6.65807e-08 1 1 0 TGFB2 7042 broad.mit.edu 37 1 218609454 218609454 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr1:218609454G>A ENST00000366929.4 + 6 1448 c.981G>A c.(979-981)cgG>cgA p.R327R TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366930.4_Silent_p.R299R NM_001135599.2 NP_001129071.1 P61812 TGFB2_HUMAN transforming growth factor, beta 2 299 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) CCAACCGGCGGAAGAAGCGTG 0.433000 6 70 0 0 1 0 0 PAPOLB 56903 broad.mit.edu 37 7 4899722 4899722 + Missense_Mutation SNP C C G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr7:4899722C>G ENST00000404991.1 - 1 1903 c.1717G>C c.(1717-1719)Gaa>Caa p.E573Q RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 573 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AAGGAAAATTCAGTAGCCTGT 0.458000 5 53 0 0 1 0 0 HIC1 3090 broad.mit.edu 37 17 1960080 1960080 + Missense_Mutation SNP C C G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr17:1960080C>G ENST00000399849.2 + 2 256 c.96C>G c.(94-96)atC>atG p.I32M HIC1_ENST00000322941.3_Missense_Mutation_p.I51M NM_006497.3 NP_006488.2 Q14526 HIC1_HUMAN hypermethylated in cancer 1 51 multicellular organismal development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 READ - Rectum adenocarcinoma(1115;0.236) ACGTGATCATCGTGGTGCAGA 0.632000 5 30 0 0 1 0 0 CLCN4 1183 broad.mit.edu 37 X 10201608 10201608 + Missense_Mutation SNP C C A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:10201608C>A ENST00000380833.4 + 13 2658 c.2267C>A c.(2266-2268)tCc>tAc p.S756Y CLCN4_ENST00000380829.1_Missense_Mutation_p.S725Y|CLCN4_ENST00000421085.2_Missense_Mutation_p.S662Y NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 756 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GACCCCGAATCCATCATGTTT 0.358000 6 86 0.00198382 0.00200958 1 1 0 NLRP4 147945 broad.mit.edu 37 19 56369450 56369450 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr19:56369450G>A ENST00000301295.6 + 3 1113 c.691G>A c.(691-693)Gac>Aac p.D231N NLRP4_ENST00000587891.1_Missense_Mutation_p.D156N|NLRP4_ENST00000346986.5_Missense_Mutation_p.D231N NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 231 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTTCGTCATCGACAGCTTCGA 0.547000 7 92 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15361331 15361331 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr1:15361331C>T ENST00000376030.2 + 3 799 c.505C>T c.(505-507)Cgc>Tgc p.R169C KAZN_ENST00000422387.2_Missense_Mutation_p.R169C|KAZN_ENST00000503743.1_Missense_Mutation_p.R169C|KAZN_ENST00000400798.2_Missense_Mutation_p.R75C|KAZN_ENST00000361144.5_Missense_Mutation_p.R163C|KAZN_ENST00000400797.3_Missense_Mutation_p.R75C NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 169 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 ACTGGAGAGCCGCGAGGAGCA 0.617000 6 54 0 0 1 0 0 NR2C2 7182 broad.mit.edu 37 3 15079580 15079580 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr3:15079580G>A ENST00000425241.1 + 12 1808 c.1446G>A c.(1444-1446)atG>atA p.M482I NR2C2_ENST00000406272.2_Missense_Mutation_p.M482I|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Missense_Mutation_p.M482I|NR2C2_ENST00000323373.6_Missense_Mutation_p.M501I P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 482 Ligand-binding (By similarity). cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GTAACAGCATGGCGAAGCTGG 0.463000 5 101 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54335724 54335724 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:54335724C>T ENST00000354646.2 - 4 1173 c.735G>A c.(733-735)atG>atA p.M245I WNK3_ENST00000375159.2_Missense_Mutation_p.M245I|WNK3_ENST00000375169.3_Missense_Mutation_p.M245I NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 245 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 CCTTTGGTTTCATGACTTTAA 0.368000 5 48 0 0 1 0 0 FGF21 26291 broad.mit.edu 37 19 49261276 49261276 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr19:49261276G>A ENST00000593756.1 + 4 1001 c.429G>A c.(427-429)ccG>ccA p.P143P FGF21_ENST00000222157.3_Silent_p.P143P Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 143 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) ACGGCCTCCCGCTGCACCTGC 0.652000 21 89 0 0 1 0 0 VBP1 7411 broad.mit.edu 37 X 154467052 154467052 + Splice_Site SNP G G C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:154467052G>C ENST00000286428.5 + 6 640 c.e6-1 VBP1_ENST00000459836.1_Splice_Site|VBP1_ENST00000535916.1_Splice_Site NM_003372.5 NP_003363.1 P61758 PFD3_HUMAN von Hippel-Lindau binding protein 1 'de novo' posttranslational protein folding nucleus|prefoldin complex unfolded protein binding NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AATTCTTGCAGATATGGCCAG 0.338000 10 191 0 0 1 0 0 TMEM120B 144404 broad.mit.edu 37 12 122211410 122211410 + Missense_Mutation SNP C C G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr12:122211410C>G ENST00000449592.2 + 9 864 c.763C>G c.(763-765)Ctc>Gtc p.L255V TMEM120B_ENST00000540377.1_5'UTR NM_001080825.2 NP_001074294.2 A0PK00 T120B_HUMAN transmembrane protein 120B 255 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) CCACCTGGATCTCACAGTGGG 0.652000 OREG0022206 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 18 0 0 1 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257532 41257532 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr22:41257532C>T ENST00000307221.4 - 1 598 c.467G>A c.(466-468)gGa>gAa p.G156E XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 156 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TGATGTATATCCTGTATCATA 0.398000 13 166 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133791120 133791120 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr11:133791120C>T ENST00000321016.8 - 18 2730 c.2500G>A c.(2500-2502)Gtg>Atg p.V834M IGSF9B_ENST00000533871.2_Missense_Mutation_p.V834M Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 834 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCCTTGGCCACGCTGTACTTC 0.657000 3 40 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123481027 123481027 + Silent SNP C C A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr11:123481027C>A ENST00000529750.1 + 13 1798 c.1471C>A c.(1471-1473)Cgg>Agg p.R491R GRAMD1B_ENST00000322282.7_Silent_p.R491R|GRAMD1B_ENST00000456860.2_Silent_p.R498R|GRAMD1B_ENST00000450171.2_Silent_p.R182R NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 491 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CCGTGTGGCTCGGAACAAGAG 0.542000 6 98 0.217242 0.217242 1 1 0 MORC1 27136 broad.mit.edu 37 3 108688549 108688549 + Missense_Mutation SNP C C G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr3:108688549C>G ENST00000232603.5 - 26 2653 c.2571G>C c.(2569-2571)caG>caC p.Q857H MORC1_ENST00000483760.1_Missense_Mutation_p.Q836H NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 857 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTTGTTCATCTGCTCTGGGC 0.363000 5 101 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5080386 5080386 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr11:5080386C>T ENST00000321522.2 - 1 471 c.472G>A c.(472-474)Gtc>Atc p.V158I NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GAGGGAATGACGAAAATTAAA 0.453000 4 20 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904529 55904529 + Silent SNP A A T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr11:55904529A>T ENST00000301529.1 - 1 665 c.666T>A c.(664-666)gtT>gtA p.V222V NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) GAATGGACAAAACAATATTGA 0.373000 5 89 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9318713 9318713 + Silent SNP C C A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr12:9318713C>A ENST00000261336.2 - 18 2221 c.2193G>T c.(2191-2193)ggG>ggT p.G731G PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.G600G NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CAGGGACTGGCCCTGAACTTT 0.428000 14 104 6.31663e-08 6.65807e-08 1 1 0 PLOD2 5352 broad.mit.edu 37 3 145788905 145788905 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr3:145788905C>T ENST00000282903.5 - 19 2222 c.2045G>A c.(2044-2046)cGt>cAt p.R682H PLOD2_ENST00000494950.1_Missense_Mutation_p.R627H|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.R342H|PLOD2_ENST00000360060.3_Missense_Mutation_p.R661H NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 661 Fe2OG dioxygenase. protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) ACGAAGAGAACGCTGTCGTTC 0.348000 6 34 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33593578 33593578 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr20:33593578C>T ENST00000252015.2 - 16 1945 c.1856G>A c.(1855-1857)aGc>aAc p.S619N TRPC4AP_ENST00000432634.2_Missense_Mutation_p.S580N|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.S611N|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.S221N Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 619 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) CACCAGGGAGCTGTTGATCTG 0.547000 4 93 0 0 1 0 0 CCDC116 164592 broad.mit.edu 37 22 21989343 21989343 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr22:21989343G>A ENST00000292779.3 + 4 1152 c.991G>A c.(991-993)Gac>Aac p.D331N NM_152612.2 NP_689825.2 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 331 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) CCACTGCCGCGACGGCCGTCC 0.657000 6 41 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232081457 232081457 + Missense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr2:232081457C>T ENST00000349938.4 + 5 649 c.455C>T c.(454-456)cCt>cTt p.P152L ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 152 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) TATGCCCTTCCTTTTGTTCCC 0.463000 9 141 0 0 1 0 0 CDC42EP1 11135 broad.mit.edu 37 22 37964720 37964720 + Missense_Mutation SNP G G C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr22:37964720G>C ENST00000249014.4 + 3 1489 c.1069G>C c.(1069-1071)Gag>Cag p.E357Q NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 357 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CCTGGACGAAGAGTGGAGGGC 0.647000 4 3 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971110 21971110 + Missense_Mutation SNP T T C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr9:21971110T>C ENST00000304494.5 - 2 518 c.248A>G c.(247-249)cAc>cGc p.H83R CDKN2A_ENST00000361570.3_Silent_p.A138A|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000579755.1_Silent_p.A97A|CDKN2A_ENST00000530628.2_Silent_p.A97A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83R|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32R NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 83 H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.H83P(2)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)|p.H83R(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGCAGCGTCGTGCACGGGTCG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 14 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29557872 29557872 + Silent SNP A A G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr17:29557872A>G ENST00000358273.4 + 24 3509 c.3126A>G c.(3124-3126)gtA>gtG p.V1042V NF1_ENST00000356175.3_Silent_p.V1042V NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1042 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.V1042fs*17(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATAAGATGGTAGAATACCTGA 0.368000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 3 34 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920108 4920108 + Silent SNP T T C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr12:4920108T>C ENST00000433855.1 + 1 1767 c.901T>C c.(901-903)Ttg>Ctg p.L301L KCNA6_ENST00000280684.3_Silent_p.L301L NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 301 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CATCATTGACTTGGTGGCTAT 0.582000 HNSCC(72;0.22) 23 63 0 0 1 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102040012 102040012 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr7:102040012G>A ENST00000496391.1 + 7 1533 c.223G>A c.(223-225)Ggc>Agc p.G75S PRKRIP1_ENST00000354783.4_Missense_Mutation_p.G37S|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.G75S|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.G18S Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 75 Required for RNA-binding (By similarity). nucleolus endometrium(1)|lung(4)|ovary(1) 6 TGCTGGGGCCGGCAGTGGAGA 0.512000 19 115 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179659934 179659934 + Silent SNP A A G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr2:179659934A>G ENST00000589042.1 - 7 1184 c.960T>C c.(958-960)tcT>tcC p.S320S TTN_ENST00000342992.6_Silent_p.S320S|TTN_ENST00000342175.6_Silent_p.S320S|TTN_ENST00000591111.1_Silent_p.S320S|TTN_ENST00000360870.5_Silent_p.S320S|TTN_ENST00000460472.2_Silent_p.S320S|TTN_ENST00000359218.5_Silent_p.S320S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 320 ZIS1. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGACCTAACAGACCTGATGG 0.547000 10 60 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96222495 96222495 + Splice_Site SNP T T A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr5:96222495T>A ENST00000437043.3 + 4 1560 c.e4+2 CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Splice_Site|ERAP2_ENST00000379904.4_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GGGGTCAAGGTGAGACTGAGT 0.378000 12 77 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). 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.E542K(545)|p.E542Q(10) 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) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 50 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118797579 118797579 + Silent SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:118797579C>T ENST00000394610.1 - 3 471 c.207G>A c.(205-207)ggG>ggA p.G69G SEPT6_ENST00000354416.3_Silent_p.G69G|SEPT6_ENST00000354228.4_Silent_p.G69G|SEPT6_ENST00000489216.1_Silent_p.G69G|SEPT6_ENST00000394616.4_Silent_p.G11G|SEPT6_ENST00000394617.2_Silent_p.G99G|SEPT6_ENST00000343984.5_Silent_p.G69G|SEPT6_ENST00000360156.7_Silent_p.G69G NM_145799.3 NP_665798.1 Q14141 SEPT6_HUMAN septin 6 69 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 TGGCTGGCTCCCCTTCGAATT 0.507000 T MLL AML 73 289 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48211016 48211016 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr16:48211016G>A ENST00000394747.1 - 24 3706 c.3357C>T c.(3355-3357)gtC>gtT p.V1119V ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.V1119V|ABCC11_ENST00000353782.5_Silent_p.V1119V|ABCC11_ENST00000356608.2_Silent_p.V1119V NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1119 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GAGCTTCCGAGACACACATCT 0.483000 5 54 0 0 1 0 0 OR2T33 391195 broad.mit.edu 37 1 248436658 248436658 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr1:248436658G>A ENST00000318021.2 - 1 480 c.459C>T c.(457-459)gaC>gaT p.D153D NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCAGGAGCCCGTCAGCTGCAC 0.587000 9 119 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671747 45671747 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr11:45671747G>A ENST00000308064.2 - 4 1397 c.727C>T c.(727-729)Cgc>Tgc p.R243C NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 243 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GTCTCGCTGCGCGAAGCCAGA 0.657000 4 66 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 66 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134644737 134644737 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr7:134644737G>A ENST00000361388.2 + 12 1853 c.1387G>A c.(1387-1389)Gca>Aca p.A463T CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000543443.1_Missense_Mutation_p.A442T|CALD1_ENST00000393118.2_Missense_Mutation_p.A457T|CALD1_ENST00000495522.1_Missense_Mutation_p.A456T|CALD1_ENST00000361675.2_Missense_Mutation_p.A692T|CALD1_ENST00000361901.2_Missense_Mutation_p.A437T|CALD1_ENST00000424922.1_Missense_Mutation_p.A431T|CALD1_ENST00000422748.1_Missense_Mutation_p.A462T|CALD1_ENST00000417172.1_Missense_Mutation_p.A437T NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 692 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 AACAAAAAGCGCAAAACCTAC 0.418000 3 40 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578247 7578247 + Nonsense_Mutation SNP A A T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr17:7578247A>T ENST00000420246.2 - 6 734 c.602T>A c.(601-603)tTg>tAg p.L201* TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000269305.4_Nonsense_Mutation_p.L201* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 201 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation). 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) CTCCACACGCAAATTTCCTTC 0.552000 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 10 43 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72425867 72425867 + Missense_Mutation SNP C C A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr4:72425867C>A ENST00000340595.3 + 20 3059 c.2863C>A c.(2863-2865)Ctc>Atc p.L955I SLC4A4_ENST00000351898.6_Missense_Mutation_p.L915I|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L999I|SLC4A4_ENST00000264485.5_Missense_Mutation_p.L999I NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 999 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCAGCACGACCTCAGCTTCCT 0.413000 24 109 3.99451e-17 4.32738e-17 1 1 0 PLXNB2 23654 broad.mit.edu 37 22 50720062 50720062 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr22:50720062G>A ENST00000449103.1 - 21 3595 c.3455C>T c.(3454-3456)cCg>cTg p.P1152L PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1152L O15031 PLXB2_HUMAN plexin B2 1152 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTGCACCTCCGGGGGCTCACA 0.677000 3 38 0 0 1 0 0 C20orf85 128602 broad.mit.edu 37 20 56728608 56728608 + Missense_Mutation SNP G G A rs16984945 byFrequency TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr20:56728608G>A ENST00000371168.3 + 2 138 c.77G>A c.(76-78)cGt>cAt p.R26H NM_178456.2 NP_848551.1 Q9H1P6 CT085_HUMAN chromosome 20 open reading frame 85 26 R -> H (in dbSNP:rs16984945). p.R26L(1) kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 13 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) AGGAAATACCGTCTGAAGGCT 0.483000 21 173 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19666941 19666941 + Missense_Mutation SNP G G A rs140721787 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr21:19666941G>A ENST00000284885.3 - 20 2323 c.2290C>T c.(2290-2292)Cgg>Tgg p.R764W NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 764 SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CACTGTAACCGAATCAAGGAA 0.284000 7 101 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 92 0 0 1 0 0 ZNF232 7775 broad.mit.edu 37 17 5012303 5012303 + Silent SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr17:5012303C>T ENST00000250076.3 - 4 1197 c.543G>A c.(541-543)gaG>gaA p.E181E ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.E181E|ZNF232_ENST00000575538.1_5'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 154 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 ATTCCTTCTTCTCCCATGGCT 0.532000 12 150 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42147786 42147786 + Missense_Mutation SNP C C G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr8:42147786C>G ENST00000520810.1 + 4 499 c.313C>G c.(313-315)Cgg>Ggg p.R105G IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000416505.2_Missense_Mutation_p.R46G|IKBKB_ENST00000520835.1_Missense_Mutation_p.R103G|IKBKB_ENST00000519735.1_Missense_Mutation_p.R105G|IKBKB_ENST00000522147.1_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 105 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGGAGATCTCCGGAAGGTGAG 0.612000 4 13 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55670503 55670503 + Missense_Mutation SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr19:55670503G>A ENST00000527223.2 - 12 1755 c.1754C>T c.(1753-1755)tCa>tTa p.S585L DNAAF3_ENST00000524407.2_Missense_Mutation_p.S518L|DNAAF3_ENST00000455045.1_Missense_Mutation_p.S464L|DNAAF3_ENST00000391720.4_Missense_Mutation_p.S565L|CTD-2587H24.4_ENST00000587871.1_Intron|DNAAF3_ENST00000587789.2_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 518 CAGAACCTCTGAGAGTGAACC 0.627000 8 47 0 0 1 0 0 PITPNC1 26207 broad.mit.edu 37 17 65548417 65548417 + Missense_Mutation SNP A A G TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr17:65548417A>G ENST00000580974.1 + 3 938 c.242A>G c.(241-243)tAt>tGt p.Y81C PITPNC1_ENST00000581322.1_Missense_Mutation_p.Y81C|PITPNC1_ENST00000299954.9_Missense_Mutation_p.Y81C|PITPNC1_ENST00000335257.6_Missense_Mutation_p.Y81C NM_012417.3|NM_181671.2 NP_036549.2|NP_858057.1 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, cytoplasmic 1 81 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3) 17 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) AAAATATTTTATGTGACAGAG 0.413000 8 63 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7845405 7845405 + Nonsense_Mutation SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr6:7845405C>T ENST00000283147.6 + 2 856 c.697C>T c.(697-699)Cga>Tga p.R233* NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 233 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) CCCTCGTCAGCGACACCACAA 0.483000 4 105 0 0 1 0 0 GOLGA6A 342096 broad.mit.edu 37 15 74368258 74368258 + Silent SNP C C T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr15:74368258C>T ENST00000290438.3 - 8 673 c.633G>A c.(631-633)ctG>ctA p.L211L NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 211 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 CGTGTGCGTTCAGCAGCGCCC 0.582000 5 76 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76789551 76789551 + Missense_Mutation SNP G G C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr10:76789551G>C ENST00000287239.4 + 18 5458 c.4969G>C c.(4969-4971)Gat>Cat p.D1657H KAT6B_ENST00000372724.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1365H|KAT6B_ENST00000372711.1_Missense_Mutation_p.D1474H NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1657 Interaction with RUNX1 and RUNX2.|Ser-rich. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding ATCAGTTTCAGATCATTCACA 0.473000 5 100 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34519268 34519268 + Missense_Mutation SNP G G C TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr20:34519268G>C ENST00000374012.3 + 15 2331 c.2202G>C c.(2200-2202)caG>caC p.Q734H PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 734 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) ACTCCCATCAGAATGCCAAGA 0.517000 7 79 0 0 1 0 0 BBS1 582 broad.mit.edu 37 11 66278499 66278499 + Silent SNP G G A TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr11:66278499G>A ENST00000419755.3 + 2 252 c.174G>A c.(172-174)tcG>tcA p.S58S BBS1_ENST00000393994.2_Silent_p.S21S|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Silent_p.S21S|BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000318312.7_Silent_p.S21S AGGCCAATTCGAAGTGGTTGG 0.527000 19 210 0 0 1 0 0 RP11-418J17.3 0 broad.mit.edu 37 1 119862914 119862915 + RNA INS - - T TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr1:119862914_119862915insT ENST00000457719.1 - 0 341 ccctcccttccttttccttcct 0.426 3 6 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 3 4 --- --- --- --- UBAP2L 9898 broad.mit.edu 37 1 154221860 154221862 + In_Frame_Del DEL CCT CCT - TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr1:154221860_154221862delCCT ENST00000428931.1 + 12 1327_1329 c.1160_1162delCCT c.(1159-1164)acc>a p.TS387del UBAP2L_ENST00000361546.2_In_Frame_Del_p.TS387del|UBAP2L_ENST00000343815.6_In_Frame_Del_p.TS387del|UBAP2L_ENST00000271877.7_In_Frame_Del_p.TS398del NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 387 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCACCACCACCTCCTCTTGGGA 0.522 17 148 --- --- --- --- LOC101929019 101929019 broad.mit.edu 37 4 12250556 12250557 + RNA INS - - T rs144696462 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr4:12250556_12250557insT ENST00000505386.1 + 0 310 TTTGGTTTTGGttttttttttt 0.426 3 3 --- --- --- --- LINC00535 642924 broad.mit.edu 37 8 94694008 94694011 + RNA DEL ACAC ACAC - rs146139653 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr8:94694008_94694011delACAC ENST00000501400.1 - 0 692 NR_033858.1 atacacacatacacacacacacac 0.373 3 4 --- --- --- --- LINC01503 100506119 broad.mit.edu 37 9 132101793 132101794 + RNA DEL GT GT - rs71666473 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr9:132101793_132101794delGT ENST00000436710.1 + 0 419 GGGGGGTAGGgtgtgtgtgtgt 0.574 2 4 --- --- --- --- ZNF503-AS1 253264 broad.mit.edu 37 10 77089193 77089196 + RNA DEL CTTT CTTT - rs71024539 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr10:77089193_77089196delCTTT ENST00000416398.1 + 0 262 RP11-399K21.11_ENST00000418818.2_lincRNA NR_038223.1 tccttccttcctttctttctttct 0.397 2 4 --- --- --- --- RP11-264E18.1 0 broad.mit.edu 37 10 130115029 130115032 + RNA DEL GTGT GTGT - rs72070262 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr10:130115029_130115032delGTGT ENST00000454492.1 - 0 253 ATCAGAAATGgtgtgtgtgtgtgt 0.436 3 3 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90279580 90279581 + RNA INS - - AC rs36206496 by1000genomes TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr11:90279580_90279581insAC ENST00000562678.1 + 0 43 aacatgcatagacacacacaca 0.327 3 4 --- --- --- --- RP11-26L16.1 0 broad.mit.edu 37 14 86822636 86822636 + RNA DEL T T - TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr14:86822636delT ENST00000553679.1 + 0 133 tctttctttcttttttttttt 0.438 2 4 --- --- --- --- LOC100128714 100128714 broad.mit.edu 37 15 26233751 26233764 + RNA DEL TGTGTGTGTGTGTG TGTGTGTGTGTGTG - rs71933266 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr15:26233751_26233764delTGTGTGTGTGTGTG ENST00000383019.2 + 0 207 NR_040082.1 aaccttgttttgtgtgtgtgtgtgtgtgtgtgtg 0.486 2 4 --- --- --- --- RP11-382A20.4 0 broad.mit.edu 37 15 84063040 84063041 + RNA INS - - AGGG rs71464540 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr15:84063040_84063041insAGGG ENST00000565495.1 + 0 264 gggagggagggaggaaggatgg 0.554 2 4 --- --- --- --- LOC101927580 101927580 broad.mit.edu 37 16 59902225 59902226 + RNA DEL AT AT - rs765663 by1000genomes TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr16:59902225_59902226delAT ENST00000568279.1 + 0 173 acacacacacatggtcatagaa 0.441 3 3 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 7 67 --- --- --- --- JAK3 3718 broad.mit.edu 37 19 17954641 17954642 + Frame_Shift_Ins INS - - C rs139738701 byFrequency TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr19:17954641_17954642insC ENST00000458235.1 - 3 351_352 c.252_253insG c.(250-255)ccgccafs p.P85fs JAK3_ENST00000534444.1_Frame_Shift_Ins_p.P85fs|JAK3_ENST00000527670.1_Frame_Shift_Ins_p.P85fs|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 85 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 AAGATGTGGCTCGGGGGGAACC 0.589 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 10 47 --- --- --- --- SDCBP2-AS1 100507495 broad.mit.edu 37 20 1332935 1332936 + RNA INS - - C rs34296791 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr20:1332935_1332936insC ENST00000446423.1 + 0 109 NR_040048.1 cttccttccttccttccttcct 0.480 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11056427 11056427 + RNA DEL G G - rs137953514 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr21:11056427delG ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) acatatttttggggggtctct 0.303 9 5 --- --- --- --- CRELD2 79174 broad.mit.edu 37 22 50315936 50315973 + Splice_Site DEL CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG - rs71805922 by1000genomes TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG ENST00000404488.3 + 6 727_756 c.592_splice c.e6-1 p.198_splice CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000407217.3_Intron NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 197 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC 0.622 8 10 --- --- --- --- VCX3A 51481 broad.mit.edu 37 X 6451813 6451842 + In_Frame_Del DEL GCTCTCCTGACTCAGTGGTTCCTCCACCTG GCTCTCCTGACTCAGTGGTTCCTCCACCTG - rs151295255 byFrequency TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:6451813_6451842delGCTCTCCTGACTCAGTGGTTCCTCCACCTG ENST00000381089.3 - 3 811_840 c.505_534delCAGGTGGAGGAACCACTGAGTCAGGAGAGC c.(505-534)del p.QVEEPLSQES169del VCX3A_ENST00000398729.1_In_Frame_Del_p.QVEEPLSQES149del NM_016379.3 NP_057463.2 Q9NNX9 VCX3_HUMAN variable charge, X-linked 3A 169 8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. brain development nucleolus NS(1)|lung(2)|pancreas(1) 4 CTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGA 0.583 59 301 --- --- --- --- SPANXN4 441525 broad.mit.edu 37 X 142121809 142121811 + Splice_Site DEL AGA AGA - rs78094296 TCGA-BA-5557-01A-01D-1512-08 TCGA-BA-5557-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7caa2a2f-3b77-46f0-9886-37f6e4278d83 47dd8b1c-117a-4793-8956-859d61284da8 g.chrX:142121809_142121811delAGA ENST00000446864.1 + 2 175_176 c.78_splice c.e2-1 p.K28_splice SPANXN4_ENST00000370504.3_Intron NM_001009613.2 NP_001009613.1 Q5MJ08 SPXN4_HUMAN SPANX family, member N4 28 endometrium(2)|large_intestine(2)|lung(3)|ovary(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) TTTTTTTACCAGAAGAAGAAGAA 0.414 6 5 --- --- --- ---