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 VCP 7415 broad.mit.edu 37 9 35060506 35060506 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr9:35060506G>A ENST00000358901.6 - 13 2394 c.1499C>T c.(1498-1500)cCa>cTa p.P500L NM_007126.3 NP_009057.1 P55072 TERA_HUMAN valosin containing protein 500 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GAATTTGTCTGGGTGCTCCAC 0.453000 15 37 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 33 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49160648 49160648 + Missense_Mutation SNP T T A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:49160648T>A ENST00000418109.1 - 27 4305 c.4141A>T c.(4141-4143)Agc>Tgc p.S1381C LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381C NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1381 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ATGTGTTTGCTGTTGAAGTCC 0.557000 37 25 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 169993051 169993051 + Silent SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:169993051G>A ENST00000295797.4 + 8 986 c.681G>A c.(679-681)ttG>ttA p.L227L NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 227 Regulatory domain. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATGAGAGTTTGGATCAAGTTG 0.289000 7 162 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49160646 49160646 + Missense_Mutation SNP G G T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:49160646G>T ENST00000418109.1 - 27 4307 c.4143C>A c.(4141-4143)agC>agA p.S1381R LAMB2_ENST00000305544.4_Missense_Mutation_p.S1381R NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1381 Domain II. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCATGTGTTTGCTGTTGAAGT 0.562000 38 25 1.38162e-09 1.60567e-09 1 1 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334038 39334038 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr17:39334038G>A ENST00000377726.2 - 1 422 c.379C>T c.(379-381)Cgc>Tgc p.R127C NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 127 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CAGGTTGGGCGGCAGCAGGTG 0.582000 40 89 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940079 22940079 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr19:22940079C>A ENST00000397104.3 - 6 2251 c.2252G>T c.(2251-2253)tGt>tTt p.C751F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGCTTTGCCACATTCTTCACA 0.343000 20 64 1.56452e-12 1.92213e-12 1 1 0 A2M 2 broad.mit.edu 37 12 9256869 9256869 + Missense_Mutation SNP G G C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr12:9256869G>C ENST00000318602.7 - 11 1539 c.1232C>G c.(1231-1233)aCc>aGc p.T411S NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 411 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AACATTGGTGGTGTTGATAGA 0.403000 3 23 0 0 1 0 0 CST5 1473 broad.mit.edu 37 20 23860252 23860252 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr20:23860252C>A ENST00000304710.4 - 1 135 c.62G>T c.(61-63)gGg>gTg p.G21V NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 21 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 CGAGGCACTCCCGGCCACGGC 0.597000 29 59 4.59853e-10 5.49269e-10 1 1 0 NEDD4 4734 broad.mit.edu 37 15 56142797 56142797 + Silent SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr15:56142797C>T ENST00000508342.1 - 10 2846 c.2547G>A c.(2545-2547)cgG>cgA p.R849R NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R|NEDD4_ENST00000506154.1_Silent_p.R833R P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 849 Mediates interaction with TNIK (By similarity).|WW 3. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TTGGTGCATGCCGGACTTCCC 0.453000 4 194 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520580 33520580 + Silent SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr17:33520580G>A ENST00000297307.5 - 1 832 c.747C>T c.(745-747)gaC>gaT p.D249D NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 249 integral to membrane AACTCAGGAGGTCACTGGGCA 0.642000 4 100 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1551468 1551468 + Silent SNP C C G TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr16:1551468C>G ENST00000262319.6 + 10 1608 c.1329C>G c.(1327-1329)ccC>ccG p.P443P NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 443 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) TGGCCTCCCCCCAGCCTGCGG 0.701000 9 5 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 4 17 0 0 1 0 0 MRPS31P5 100887750 broad.mit.edu 37 13 52742043 52742043 + RNA SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr13:52742043G>A ENST00000451298.1 - 0 3596 RP11-64P12.8_ENST00000606031.1_RNA TCTACAAAACGCGAGTAGCAG 0.448000 5 7 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37948042 37948042 + Missense_Mutation SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr1:37948042C>T ENST00000373087.6 + 5 942 c.826C>T c.(826-828)Ccc>Tcc p.P276S NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 276 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CAGGTTTATGCCCCCTGATGA 0.592000 4 106 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603238 111603238 + Missense_Mutation SNP T T C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:111603238T>C ENST00000431670.2 + 2 725 c.314T>C c.(313-315)aTg>aCg p.M105T PHLDB2_ENST00000393923.3_Missense_Mutation_p.M132T|PHLDB2_ENST00000412622.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000481953.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000477695.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000478922.1_Missense_Mutation_p.M105T|PHLDB2_ENST00000393925.3_Missense_Mutation_p.M105T NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 105 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AATATTCCTATGAAACCTCCA 0.463000 142 117 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 100 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31362169 31362169 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr15:31362169C>A ENST00000559179.1 - 3 411 c.278G>T c.(277-279)aGc>aTc p.S93I TRPM1_ENST00000397795.2_Intron|TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000542188.1_Intron NM_001252030.1 NP_001238959.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1378 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CAGTTTGGGGCTGGGAGACTG 0.463000 5 290 0.000602214 0.00064738 1 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374420 95374420 + RNA SNP A A G TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:95374420A>G ENST00000494840.1 - 0 1441 NR_077228.1 CTGGAGAAAAAGCATTGCAGA 0.413000 3 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179469737 179469737 + Missense_Mutation SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr2:179469737C>T ENST00000589042.1 - 280 54391 c.54167G>A c.(54166-54168)cGa>cAa p.R18056Q TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16415Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16415 Fibronectin type-III 31. 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) GTGAACATTTCGGAACACTGA 0.438000 79 116 0 0 1 0 0 IL19 29949 broad.mit.edu 37 1 207014409 207014409 + Missense_Mutation SNP G G A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr1:207014409G>A ENST00000270218.6 + 6 1363 c.424G>A c.(424-426)Gac>Aac p.D142N IL19_ENST00000340758.2_Missense_Mutation_p.D180N NM_013371.3 NP_037503.2 Q9UHD0 IL19_HUMAN interleukin 19 142 apoptosis|immune response|signal transduction extracellular space cytokine activity central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(75;0.211) AGTCATCCATGACAACTATGA 0.512000 10 29 0 0 1 0 0 SLC25A23 79085 broad.mit.edu 37 19 6454709 6454709 + Missense_Mutation SNP C C A TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr19:6454709C>A ENST00000301454.4 - 5 609 c.503G>T c.(502-504)tGc>tTc p.C168F SLC25A23_ENST00000334510.5_Missense_Mutation_p.C168F NM_024103.2 NP_077008.2 Q9BV35 SCMC3_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 168 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1) 17 CACTGTCAGGCACTCGCCAAT 0.582000 24 63 3.28513e-13 4.15472e-13 1 1 0 FAM179B 23116 broad.mit.edu 37 14 45523651 45523651 + Silent SNP A A G TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr14:45523651A>G ENST00000361462.2 + 16 4641 c.4458A>G c.(4456-4458)ccA>ccG p.P1486P FAM179B_ENST00000361577.3_Silent_p.P1433P|FAM179B_ENST00000382233.2_3'UTR Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1433 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 GGGAGATACCATTAGATACTC 0.323000 17 59 0 0 1 0 0 OSBPL7 114881 broad.mit.edu 37 17 45894036 45894036 + Missense_Mutation SNP G G C TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr17:45894036G>C ENST00000007414.3 - 10 1012 c.821C>G c.(820-822)cCc>cGc p.P274R OSBPL7_ENST00000392507.3_Missense_Mutation_p.P274R NM_145798.2 NP_665741.1 Q9BZF2 OSBL7_HUMAN oxysterol binding protein-like 7 274 lipid transport lipid binding autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 AGACAGGTTGGGAACAGAGCC 0.652000 4 31 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517139 158517139 + Missense_Mutation SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr1:158517139C>T ENST00000302617.3 - 1 756 c.757G>A c.(757-759)Gta>Ata p.V253I NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) AAGAGAATTACGACGGTCAGG 0.507000 8 61 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 13 0 0 1 0 0 CGGBP1 8545 broad.mit.edu 37 3 88104673 88104673 + Missense_Mutation SNP G G T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr3:88104673G>T ENST00000398392.2 - 1 1786 c.454C>A c.(454-456)Cct>Act p.P152T CGGBP1_ENST00000462901.1_Missense_Mutation_p.P152T|CGGBP1_ENST00000309534.6_Missense_Mutation_p.P152T|CGGBP1_ENST00000482016.1_Missense_Mutation_p.P152T Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) TATCCATCAGGAAGATATGCC 0.448000 7 72 5.18039e-06 5.71171e-06 1 1 0 C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 7 179 --- --- --- --- PPIG 9360 broad.mit.edu 37 2 170492941 170492945 + Frame_Shift_Del DEL AAAAG AAAAG - TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr2:170492941_170492945delAAAAG ENST00000260970.3 + 14 1393_1397 c.1173_1177delAAAAG c.(1171-1179)ataafs p.IKE391fs PPIG_ENST00000448752.2_Frame_Shift_Del_p.IKE391fs|PPIG_ENST00000409714.3_Frame_Shift_Del_p.IKE376fs|PPIG_ENST00000482772.1_3'UTR NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 391 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) TGAATGAAATAAAAGAAAATCAGAG 0.288 24 63 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48866909 48866910 + Frame_Shift_Ins INS - - T TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr8:48866909_48866910insT ENST00000314191.2 - 5 552_553 c.496_497insA c.(496-498)accfs p.T166fs PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.T166fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 166 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTATCTGGTATTTTTTTTTTC 0.267 Non-homologous end-joining 2 4 --- --- --- --- OR9G4 283189 broad.mit.edu 37 11 56511186 56511186 + Frame_Shift_Del DEL T T - TCGA-QR-A708-01A-11D-A35D-08 TCGA-QR-A708-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d09ee8c7-192b-410e-b222-7e1f23d68105 0f893a84-c320-47b8-b18b-a9f7ae480221 g.chr11:56511186delT ENST00000302957.3 - 1 101 c.102delA c.(100-102)gcfs p.A34fs NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ACTGGGAATCTGCTGAGAAAC 0.433 7 64 --- --- --- ---