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 DCAKD 79877 broad.mit.edu 37 17 43101857 43101857 + Missense_Mutation SNP C C T rs146466512 byFrequency TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr17:43101857C>T ENST00000452796.2 - 4 895 c.640G>A c.(640-642)Gct>Act p.A214T DCAKD_ENST00000588499.1_Missense_Mutation_p.A214T|DCAKD_ENST00000342350.5_Missense_Mutation_p.A214T Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 214 coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) GCAATGGCAGCGAGCCCTGTG 0.617000 23 77 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73489653 73489653 + Missense_Mutation SNP A A G TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr17:73489653A>G ENST00000314256.7 + 17 2562 c.2168A>G c.(2167-2169)tAc>tGc p.Y723C KIAA0195_ENST00000375248.5_Missense_Mutation_p.Y733C|KIAA0195_ENST00000579208.1_Missense_Mutation_p.Y374C NM_014738.4 NP_055553.3 Q12767 K0195_HUMAN KIAA0195 723 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGACATCTACCCTCTCTCG 0.602000 44 72 0 0 1 0 0 SLC25A45 283130 broad.mit.edu 37 11 65147382 65147382 + Missense_Mutation SNP G G A TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr11:65147382G>A ENST00000398802.1 - 4 312 c.109C>T c.(109-111)Cgg>Tgg p.R37W SLC25A45_ENST00000417511.2_5'UTR|SLC25A45_ENST00000294187.6_5'UTR|SLC25A45_ENST00000527174.1_Missense_Mutation_p.R37W|SLC25A45_ENST00000360662.3_Intron|SLC25A45_ENST00000534028.1_Intron|SLC25A45_ENST00000377152.2_5'UTR|SLC25A45_ENST00000526432.1_Missense_Mutation_p.R37W NM_182556.2 NP_872362.2 Q8N413 S2545_HUMAN solute carrier family 25, member 45 37 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 ACGATGCCCCGGTAGGTGGTC 0.627000 24 58 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154101784 154101784 + Silent SNP G G A TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr1:154101784G>A ENST00000368559.3 - 8 1118 c.1047C>T c.(1045-1047)tgC>tgT p.C349C NUP210L_ENST00000271854.3_Silent_p.C349C NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 349 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CATATATGGTGCAATTTGGGA 0.368000 11 135 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803363 142803363 + RNA SNP T T C rs61814263 TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr1:142803363T>C ENST00000423385.1 - 0 1602 tagagtcttattatgtttccc 0.403000 3 40 0 0 1 0 0 KLHL4 0 broad.mit.edu 37 X 86919891 86919891 + Missense_Mutation SNP A A G TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chrX:86919891A>G ENST00000373119.4 + 10 2198 c.2053A>G c.(2053-2055)Aac>Gac p.N685D KLHL4_ENST00000373114.4_Missense_Mutation_p.N685D NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 685 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TACTTATTTGAACACAGTTGA 0.378000 36 42 0 0 1 0 0 HSPA4 3308 broad.mit.edu 37 5 132400700 132400700 + Missense_Mutation SNP C C T TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr5:132400700C>T ENST00000304858.2 + 2 425 c.136C>T c.(136-138)Cgt>Tgt p.R46C NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 46 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCCTAAGAATCGTTCAATTGG 0.343000 6 157 0 0 1 0 0 GPR113 165082 broad.mit.edu 37 2 26536378 26536378 + Missense_Mutation SNP T T G TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr2:26536378T>G ENST00000333478.6 - 6 1325 c.743A>C c.(742-744)cAc>cCc p.H248P GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.H378P|GPR113_ENST00000311519.1_Missense_Mutation_p.H447P|GPR113_ENST00000541401.1_Missense_Mutation_p.H50P NM_153835.3 NP_722577.2 Q8IZF5 GP113_HUMAN G protein-coupled receptor 113 447 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGTGCCACGTGGCCAGCCTT 0.612000 9 23 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148840738 148840738 + Silent SNP C C G TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr6:148840738C>G ENST00000367467.3 + 10 1393 c.918C>G c.(916-918)ctC>ctG p.L306L NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 306 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GGTCCGCCCTCTACTCTGGCG 0.542000 39 43 0 0 1 0 0 B3GALTL 145173 broad.mit.edu 37 13 31848757 31848757 + Missense_Mutation SNP C C A TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr13:31848757C>A ENST00000343307.4 + 9 921 c.772C>A c.(772-774)Ccg>Acg p.P258T B3GALTL_ENST00000461652.2_3'UTR NM_194318.3 NP_919299.3 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 258 fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) TTCTTTTCTACCGCTTTGTGT 0.413000 5 131 1.024e-07 1.024e-07 1 1 0 FBN2 2201 broad.mit.edu 37 5 127674746 127674746 + Translation_Start_Site SNP G G A rs78484531 byFrequency TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr5:127674746G>A ENST00000507835.1 - 0 137 FBN2_ENST00000508989.1_Silent_p.D1084D|FBN2_ENST00000262464.4_Silent_p.D1117D|FBN2_ENST00000508053.1_Silent_p.D1117D P35556 FBN2_HUMAN fibrillin 2 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TCCTGCACTCGTCGATGTCTA 0.458000 45 88 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47247083 47247083 + Missense_Mutation SNP C C T TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr17:47247083C>T ENST00000300404.2 + 11 1753 c.1694C>T c.(1693-1695)gCc>gTc p.A565V B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A479V|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A505V NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 565 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CTCCAATGTGCCGCATAAAGG 0.512000 4 56 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 4 27 0 0 1 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84532572 84532572 + RNA SNP C C T TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr9:84532572C>T ENST00000527857.1 + 0 2594 NR_026851.1 TGGGACTGTGCATAGTTCATG 0.438000 6 101 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21374986 21374986 + Missense_Mutation SNP T T C TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr13:21374986T>C ENST00000400602.2 - 14 1996 c.1961A>G c.(1960-1962)gAa>gGa p.E654G XPO4_ENST00000255305.6_Missense_Mutation_p.E654G NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 654 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) ATACAGTTTTTCATCCACCAG 0.368000 21 293 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151129080 151129080 + Silent SNP C C T TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr3:151129080C>T ENST00000474524.1 + 39 5858 c.5820C>T c.(5818-5820)ggC>ggT p.G1940G MED12L_ENST00000273432.4_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1940 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGCCACAGGGCTATACAATGT 0.502000 39 77 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 4 85 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32522411 32522411 + RNA SNP T T G rs72492331 by1000genomes TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr6:32522411T>G ENST00000411500.1 - 0 740 NR_001298.1 GCTCAGGGATTAGCACAGTCC 0.493000 4 54 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72082746 72082746 + Missense_Mutation SNP C C T TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr9:72082746C>T ENST00000265381.4 - 5 1697 c.1475G>A c.(1474-1476)aGg>aAg p.R492K APBA1_ENST00000470082.1_5'UTR NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 492 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 CACCTTGATCCTGCTTACGGC 0.527000 8 235 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 31 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54011361 54011361 + Missense_Mutation SNP C C G TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr10:54011361C>G ENST00000373980.4 + 10 1525 c.1108C>G c.(1108-1110)Ctg>Gtg p.L370V PRKG1_ENST00000401604.2_Missense_Mutation_p.L355V|PRKG1_ENST00000373985.1_Missense_Mutation_p.L343V|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L73V NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 355 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) CTTCGCCAACCTGAAGCTGTC 0.413000 27 90 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104715089 104715089 + Splice_Site SNP G G T TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr7:104715089G>T ENST00000334877.4 + 8 1090 c.e8-1 KMT2E_ENST00000257745.4_Splice_Site|KMT2E_ENST00000476671.1_Splice_Site|KMT2E_ENST00000311117.3_Splice_Site|KMT2E_ENST00000334914.7_Splice_Site lysine (K)-specific methyltransferase 2E TTTGTCTGAAGATGGTGATAC 0.333000 66 130 3.07281e-33 3.14963e-33 1 1 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 7 19 --- --- --- --- RP11-615J4.3 0 broad.mit.edu 37 3 111197863 111197866 + RNA DEL CACA CACA - rs71968470 TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr3:111197863_111197866delCACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacaca 0.539 3 5 --- --- --- --- MEGF10 84466 broad.mit.edu 37 5 126792989 126792991 + In_Frame_Del DEL CAG CAG - TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr5:126792989_126792991delCAG ENST00000274473.6 + 26 3669_3671 c.3402_3404delCAG c.(3400-3405)aac>aa p.NS1134del MEGF10_ENST00000503335.2_In_Frame_Del_p.NS1134del NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 1134 Necessary for formation of large intracellular vacuoles.|Ser-rich. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) gcagcagcaacagcagcagcagc 0.512 7 137 --- --- --- --- CCT6P3 0 broad.mit.edu 37 7 64525145 64525149 + RNA DEL GTAAA GTAAA - TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr7:64525145_64525149delGTAAA ENST00000426828.1 + 0 206 NR_033416.1 ttcctcatctgtaaagtagagataa 0.322 4 7 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 4 8 --- --- --- --- CTC-559E9.6 0 broad.mit.edu 37 19 19944580 19944580 + RNA DEL T T - TCGA-ET-A3DR-01A-11D-A19J-08 TCGA-ET-A3DR-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 72145918-7810-499b-bbef-00874eb19c49 4edfa5f1-438e-4afb-8fa2-a02941c1bc59 g.chr19:19944580delT ENST00000591884.1 + 0 520 ATGTTTAATCttttttttttt 0.378 5 5 --- --- --- ---