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 KIAA0922 23240 broad.mit.edu 37 4 154517429 154517429 + Missense_Mutation SNP C C A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr4:154517429C>A ENST00000409959.3 + 20 2064 c.2015C>A c.(2014-2016)tCc>tAc p.S672Y KIAA0922_ENST00000440693.1_Missense_Mutation_p.S588Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S671Y NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 671 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TCTGAGGAATCCAGGTTTGGC 0.413000 30 135 2.2171e-23 2.46345e-23 1 1 0 ASPHD1 253982 broad.mit.edu 37 16 29912482 29912482 + Missense_Mutation SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr16:29912482G>A ENST00000308748.5 + 1 442 c.190G>A c.(190-192)Gcc>Acc p.A64T ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 64 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CTTGGCCAGGGCCTCCCTGAT 0.692000 7 39 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6452580 6452580 + Missense_Mutation SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr11:6452580G>A ENST00000265983.3 - 10 1350 c.1250C>T c.(1249-1251)tCa>tTa p.S417L NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 417 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGCGGAACATGAGTTAGGGCC 0.542000 18 83 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78011469 78011469 + Missense_Mutation SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chrX:78011469C>T ENST00000435339.2 + 2 1508 c.1103C>T c.(1102-1104)tCc>tTc p.S368F LPAR4_ENST00000373301.2_Missense_Mutation_p.S368F NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 368 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 ATGCTAGAATCCACCTTTTAG 0.363000 25 66 0 0 1 0 0 CHRNB4 1143 broad.mit.edu 37 15 78921989 78921989 + Missense_Mutation SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr15:78921989C>T ENST00000261751.3 - 5 769 c.658G>A c.(658-660)Gtg>Atg p.V220M CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 220 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GTCACGTCCACGTAGCTGGGG 0.567000 36 100 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5303571 5303571 + Missense_Mutation SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr5:5303571C>T ENST00000274181.7 + 19 3118 c.2980C>T c.(2980-2982)Ccc>Tcc p.P994S NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 994 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GAGCGCCGGGCCCTGGGCAGA 0.662000 8 15 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121476663 121476663 + Missense_Mutation SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr12:121476663G>A ENST00000257570.5 - 1 382 c.112C>T c.(112-114)Cgg>Tgg p.R38W OASL_ENST00000339275.5_Missense_Mutation_p.R38W NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 38 HREWKEEVLDAVR -> TGVEGRGARRCA (in Ref. 2). interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCCACGGTCCGCACAGCGTCT 0.612000 3 27 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141598536 141598536 + Missense_Mutation SNP T T A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr2:141598536T>A ENST00000389484.3 - 30 6036 c.5065A>T c.(5065-5067)Atc>Ttc p.I1689F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1689 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATTCCATGGATAATTGAGGTT 0.373000 TSP Lung(27;0.18) 11 54 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128741626 128741626 + Missense_Mutation SNP A A C TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr4:128741626A>C ENST00000296464.3 + 14 2129 c.1718A>C c.(1717-1719)aAa>aCa p.K573T HSPA4L_ENST00000505726.1_Missense_Mutation_p.K547T|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000439123.2_Missense_Mutation_p.K604T|HSPA4L_ENST00000508776.1_Missense_Mutation_p.K573T NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 573 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CAGACACTTAAAAAAGGAAAA 0.343000 8 38 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40427927 40427927 + Silent SNP T T C TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr4:40427927T>C ENST00000319592.4 - 6 2278 c.1569A>G c.(1567-1569)acA>acG p.T523T RBM47_ENST00000381795.6_Silent_p.T523T|RBM47_ENST00000295971.7_Silent_p.T592T|RBM47_ENST00000514014.1_Silent_p.T554T|RBM47_ENST00000381793.2_Silent_p.T592T A0AV96 RBM47_HUMAN RNA binding motif protein 47 592 Ala-rich. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 AGCCTCAGTATGTCTGGTAGA 0.547000 18 69 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107719108 107719108 + Silent SNP T T C TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr8:107719108T>C ENST00000445937.1 + 9 1620 c.1359T>C c.(1357-1359)ctT>ctC p.L453L OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Silent_p.L446L|OXR1_ENST00000517566.2_Silent_p.L453L|OXR1_ENST00000531443.1_Silent_p.L453L|OXR1_ENST00000497705.1_Silent_p.L386L|OXR1_ENST00000442977.2_Silent_p.L454L NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 454 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ATTCTTTTCTTCATGAGAATT 0.353000 8 45 0 0 1 0 0 NCF2 4688 broad.mit.edu 37 1 183534839 183534839 + Splice_Site SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:183534839C>T ENST00000413720.1 - 9 1139 c.865_splice c.e9+1 p.G289_splice NCF2_ENST00000367535.3_Splice_Site_p.G334_splice|NCF2_ENST00000367536.1_Splice_Site_p.G334_splice|NCF2_ENST00000418089.1_Splice_Site_p.G253_splice NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 334 SH3 1. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 GACCACTCACCTGGTGACAGC 0.597000 17 66 0 0 1 0 0 MDM4 4194 broad.mit.edu 37 1 204495542 204495542 + Missense_Mutation SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:204495542G>A ENST00000367182.3 + 3 295 c.133G>A c.(133-135)Gaa>Aaa p.E45K MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.E45K|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367180.1_Missense_Mutation_p.E45K|MDM4_ENST00000507825.2_Missense_Mutation_p.E45K|MDM4_ENST00000391947.2_Missense_Mutation_p.E45K NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4 NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2 O15151 MDM4_HUMAN Mdm4 p53 binding protein homolog (mouse) 45 SWIB. apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization nucleus enzyme binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 16 all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGCGCAAGGTGAAATGTTCAC 0.358000 A """GBM, bladder, retinoblastoma""" 5 43 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027156 37027156 + Missense_Mutation SNP C C G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chrX:37027156C>G ENST00000358047.3 + 1 725 c.673C>G c.(673-675)Cag>Gag p.Q225E NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 225 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TCTCCGCCCACAGCCTCCCAA 0.647000 4 86 0 0 1 0 0 SLAMF7 57823 broad.mit.edu 37 1 160718246 160718246 + Silent SNP G G T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:160718246G>T ENST00000368043.3 + 2 355 c.318G>T c.(316-318)ggG>ggT p.G106G SLAMF7_ENST00000441662.2_Silent_p.G106G|SLAMF7_ENST00000359331.4_Silent_p.G106G|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Silent_p.G106G|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458104.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 106 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ACTATGTGGGGATATACAGCT 0.507000 8 102 0.00448238 0.00463695 1 1 0 IGLV7-43 28776 broad.mit.edu 37 22 22749737 22749737 + RNA SNP C C G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr22:22749737C>G ENST00000390298.2 + 0 295 CAGGCTCCCTCCTTGGGGGCA 0.557000 16 54 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200558389 200558389 + Missense_Mutation SNP C C A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:200558389C>A ENST00000367350.4 - 18 3508 c.3070G>T c.(3070-3072)Gtc>Ttc p.V1024F NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1024 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TTTTTGTTGACATATATTTCC 0.318000 9 76 1.76689e-08 1.85989e-08 1 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803783 142803783 + RNA SNP A A T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:142803783A>T ENST00000423385.1 - 0 1182 atagttaacaaagtagctggc 0.403000 5 7 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102260736 102260736 + Silent SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr5:102260736G>A ENST00000438793.3 + 5 902 c.432G>A c.(430-432)cgG>cgA p.R144R PAM_ENST00000304400.7_Silent_p.R144R|PAM_ENST00000274392.9_Silent_p.R47R|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Silent_p.R144R|PAM_ENST00000346918.2_Silent_p.R144R|PAM_ENST00000348126.2_Silent_p.R144R NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 144 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CCCCTACCCGGCTCCCCAAAG 0.413000 9 80 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57992878 57992878 + Missense_Mutation SNP C C G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr12:57992878C>G ENST00000354947.5 + 5 560 c.544C>G c.(544-546)Ctg>Gtg p.L182V PIP4K2C_ENST00000550465.1_Missense_Mutation_p.L164V|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.L134V|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.L182V Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 182 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) CAACACGCTTCTGCCCCAGTT 0.522000 19 69 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 3 41 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 59 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47161670 47161670 + Splice_Site SNP A A C TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr3:47161670A>C ENST00000409792.3 - 3 4497 c.e3+1 NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AATTAGACTTACCTTTCTGTT 0.323000 """N, F, S, Mis""" clear cell renal carcinoma 13 30 0 0 1 0 0 MRE11A 4361 broad.mit.edu 37 11 94197291 94197291 + Missense_Mutation SNP T T C TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr11:94197291T>C ENST00000323929.3 - 11 1435 c.1213A>G c.(1213-1215)Aag>Gag p.K405E MRE11A_ENST00000323977.3_Missense_Mutation_p.K405E|MRE11A_ENST00000393241.4_Missense_Mutation_p.K405E|MRE11A_ENST00000407439.3_Missense_Mutation_p.K408E NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 405 DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) GTTTTTTCCTTTTGTTCTCTA 0.313000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 15 32 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114224871 114224871 + Silent SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:114224871C>T ENST00000369615.1 + 21 3428 c.3366C>T c.(3364-3366)ccC>ccT p.P1122P MAGI3_ENST00000369617.4_Silent_p.P1147P|MAGI3_ENST00000307546.9_Intron|MAGI3_ENST00000369611.4_Silent_p.P1122P NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 0 PDZ 6. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACGTGAAACCCGAGCAACATT 0.378000 25 77 0 0 1 0 0 AGPAT9 84803 broad.mit.edu 37 4 84516043 84516043 + Missense_Mutation SNP A A G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr4:84516043A>G ENST00000395226.2 + 8 1002 c.784A>G c.(784-786)Atg>Gtg p.M262V AGPAT9_ENST00000264409.4_Missense_Mutation_p.M262V NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 262 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) TCAGAGAGCTATGGTCAAGGC 0.438000 28 110 0 0 1 0 0 HS6ST2 90161 broad.mit.edu 37 X 132092450 132092450 + Missense_Mutation SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chrX:132092450C>T ENST00000370836.2 - 2 596 c.181G>A c.(181-183)Gga>Aga p.G61R HS6ST2_ENST00000521489.1_Missense_Mutation_p.G61R NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 61 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) GTGTGGAATCCGTGAGACACA 0.716000 4 20 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72964876 72964876 + Missense_Mutation SNP T T G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr8:72964876T>G ENST00000262209.4 - 14 1976 c.1769A>C c.(1768-1770)aAt>aCt p.N590T RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 590 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) CTTCCTCTTATTGTGAAGTGC 0.483000 23 68 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21870212 21870212 + Silent SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr14:21870212G>A ENST00000399982.2 - 19 4030 c.3966C>T c.(3964-3966)ggC>ggT p.G1322G CHD8_ENST00000557364.1_Silent_p.G1322G|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.G1043G NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1322 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AAAACTTGGAGCCTTCATCAT 0.398000 5 92 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52436883 52436883 + Missense_Mutation SNP A A G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr3:52436883A>G ENST00000460680.1 - 15 2366 c.1895T>C c.(1894-1896)cTg>cCg p.L632P BAP1_ENST00000296288.5_Missense_Mutation_p.L614P NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 632 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E631_A634del(1)|p.E631fs*3(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CAGTGCCAGCAGCTCCTGCCA 0.562000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 4 81 0 0 1 0 0 WBP5 51186 broad.mit.edu 37 X 102612727 102612727 + Missense_Mutation SNP G G T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chrX:102612727G>T ENST00000372661.3 + 3 426 c.115G>T c.(115-117)Gcc>Tcc p.A39S WBP5_ENST00000372656.3_Missense_Mutation_p.A39S NM_001006612.1|NM_016303.2 NP_001006613.1|NP_057387.1 Q9UHQ7 WPB5_HUMAN WW domain binding protein 5 39 Glu-rich. breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1) 8 AGAGGAGGAGGCCAAAGCAAA 0.408000 22 88 3.62473e-10 3.95425e-10 1 1 0 OR10Z1 128368 broad.mit.edu 37 1 158577047 158577047 + Silent SNP T T A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:158577047T>A ENST00000361284.1 + 1 819 c.819T>A c.(817-819)ctT>ctA p.L273L NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GAGATCAGCTTATTGCCATGA 0.468000 67 263 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30648376 30648376 + Translation_Start_Site SNP A A G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr3:30648376A>G ENST00000295754.5 + 1 383 c.1A>G c.(1-3)Atg>Gtg p.M1V TGFBR2_ENST00000359013.4_Start_Codon_SNP_p.M1V NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 1 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GGGGTCTGCCATGGGTCGGGG 0.721000 3 3 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48601513 48601513 + Missense_Mutation SNP G G T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr19:48601513G>T ENST00000354276.3 - 6 778 c.451C>A c.(451-453)Ccg>Acg p.P151T PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P151T|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P161T|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P151T NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 151 PLA2c. P -> L (in dbSNP:rs11564538). arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TGAGACTCCGGCAGCTTTGGG 0.522000 19 42 1.33834e-09 1.43393e-09 1 1 0 TMC5 79838 broad.mit.edu 37 16 19490849 19490849 + Splice_Site SNP A A T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr16:19490849A>T ENST00000396229.2 + 14 3015 c.2267_splice c.e14+1 p.R756_splice TMC5_ENST00000564959.1_Splice_Site_p.R439_splice|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Splice_Site_p.R397_splice|TMC5_ENST00000542583.2_Splice_Site_p.R756_splice|TMC5_ENST00000541464.1_Splice_Site_p.R704_splice|TMC5_ENST00000381414.4_Splice_Site_p.R756_splice|TMC5_ENST00000219821.5_Splice_Site_p.R510_splice NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 756 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GTTTCTGAGGAGGTAAATATT 0.468000 7 103 0 0 1 0 0 CCNK 8812 broad.mit.edu 37 14 99959893 99959893 + Silent SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr14:99959893C>T ENST00000389879.5 + 3 363 c.240C>T c.(238-240)cgC>cgT p.R80R CCNK_ENST00000555049.1_Silent_p.R80R|CCNK_ENST00000557165.1_3'UTR NM_001099402.1 NP_001092872.1 O75909 CCNK_HUMAN cyclin K 80 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding NS(1)|endometrium(2)|lung(3) 6 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ATTTTCATCGCTTCTATATGT 0.318000 5 29 0 0 1 0 0 RGS18 64407 broad.mit.edu 37 1 192150435 192150435 + Silent SNP T T A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr1:192150435T>A ENST00000367460.3 + 4 478 c.297T>A c.(295-297)gcT>gcA p.A99A NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 99 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GACTAGAGGCTTTTACCAGAT 0.279000 5 48 0 0 1 0 0 CHRNA6 8973 broad.mit.edu 37 8 42612118 42612118 + Silent SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr8:42612118G>A ENST00000276410.2 - 4 682 c.327C>T c.(325-327)cgC>cgT p.R109R CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Silent_p.R94R NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 109 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGCAGGAACGCGAAGAGTCT 0.388000 24 97 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11891513 11891513 + Missense_Mutation SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr19:11891513C>T ENST00000357901.4 + 4 976 c.874C>T c.(874-876)Ctt>Ttt p.L292F ZNF441_ENST00000454339.2_Missense_Mutation_p.L225F NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATTTTATCATCTTGGAAGCTT 0.403000 7 93 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136062772 136062772 + Silent SNP T T C TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr3:136062772T>C ENST00000383202.2 - 30 3604 c.3348A>G c.(3346-3348)caA>caG p.Q1116Q STAG1_ENST00000434713.2_Silent_p.Q856Q|STAG1_ENST00000536929.1_Silent_p.Q700Q|STAG1_ENST00000236698.5_Silent_p.Q1116Q NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 1116 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TGGATGTGAGTTGTGGTGCTG 0.488000 17 47 0 0 1 0 0 COMMD5 28991 broad.mit.edu 37 8 146076155 146076155 + Missense_Mutation SNP A A G TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr8:146076155A>G ENST00000450361.2 - 2 990 c.569T>C c.(568-570)tTt>tCt p.F190S COMMD5_ENST00000402718.3_Missense_Mutation_p.F190S|COMMD5_ENST00000305103.3_Missense_Mutation_p.F190S NM_001081003.1 NP_001074472.1 Q9GZQ3 COMD5_HUMAN COMM domain containing 5 190 COMM. nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1) 11 all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GGGGACCTCAAAGCGGTATGC 0.602000 13 29 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50867254 50867254 + Silent SNP C C T TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr12:50867254C>T ENST00000398473.2 + 14 1714 c.1602C>T c.(1600-1602)tgC>tgT p.C534C LARP4_ENST00000347328.5_Silent_p.C463C|LARP4_ENST00000518444.1_Silent_p.C533C|LARP4_ENST00000293618.8_Silent_p.C463C|LARP4_ENST00000429001.3_Silent_p.C540C NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 534 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 AGACAGAATGCACTTCTGCCC 0.373000 15 42 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72964856 72964856 + Missense_Mutation SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr8:72964856G>A ENST00000262209.4 - 14 1996 c.1789C>T c.(1789-1791)Ctt>Ttt p.L597F RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 597 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ATGATCGTAAGAACAACCTCC 0.453000 19 69 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52076481 52076481 + Translation_Start_Site SNP C C A rs2305371 by1000genomes TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr19:52076481C>A ENST00000262259.2 + 0 257 ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GACTCTCCGCCGTGTCCCTGG 0.527000 3 38 0.004672 0.00475119 1 1 0 CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 3 3 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55242465 55242479 + In_Frame_Del DEL GGAATTAAGAGAAGC GGAATTAAGAGAAGC - rs121913438 TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr7:55242465_55242479delGGAATTAAGAGAAGC ENST00000275493.2 + 19 2412_2426 c.2235_2249delGGAATTAAGAGAAGC c.(2233-2250)aaa>aa p.KELREA745del EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 745 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG 0.479 E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 9 73 --- --- --- --- CREBZF 58487 broad.mit.edu 37 11 85375132 85375144 + Frame_Shift_Del DEL TCCTCCTGCAGTG TCCTCCTGCAGTG - rs71482595 TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr11:85375132_85375144delTCCTCCTGCAGTG ENST00000527447.1 - 1 1002_1014 c.776_788delCACTGCAGGAGGA c.(775-789)ggfs p.ALQEE259fs CREBZF_ENST00000398294.2_Frame_Shift_Del_p.ALQEE177fs|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 259 Leucine-zipper. negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) GTAGCGACTCTCCTCCTGCAGTGCCTGTACGCG 0.648 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 176 --- --- --- --- TMC5 79838 broad.mit.edu 37 16 19490810 19490840 + Frame_Shift_Del DEL TTCTCTTTAGTCAATTCCTTCCTGGGGGAGT TTCTCTTTAGTCAATTCCTTCCTGGGGGAGT - TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr16:19490810_19490840delTTCTCTTTAGTCAATTCCTTCCTGGGGGAGT ENST00000396229.2 + 14 2976_3006 c.2227_2257delTTCTCTTTAGTCAATTCCTTCCTGGGGGAGT c.(2227-2259)ttfs p.FSLVNSFLGEF743fs TMC5_ENST00000381414.4_Frame_Shift_Del_p.FSLVNSFLGEF743fs|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000219821.5_Frame_Shift_Del_p.FSLVNSFLGEF497fs|TMC5_ENST00000561503.1_Frame_Shift_Del_p.FSLVNSFLGEF384fs|TMC5_ENST00000564959.1_Frame_Shift_Del_p.FSLVNSFLGEF426fs|TMC5_ENST00000542583.2_Frame_Shift_Del_p.FSLVNSFLGEF743fs|TMC5_ENST00000541464.1_Frame_Shift_Del_p.FSLVNSFLGEF691fs NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 743 integral to membrane p.S744T(1)|p.S498T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGATTTTGTGTTCTCTTTAGTCAATTCCTTCCTGGGGGAGTTTCTGAGGAG 0.485 8 218 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48581285 48581286 + Frame_Shift_Ins INS - - C TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr18:48581285_48581286insC ENST00000342988.3 + 5 1127_1128 c.589_590insC c.(589-591)cccfs p.P197fs SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.P197fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.P197fs|SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 197 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(3) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GACATACAGCACCCCAGCTCTG 0.485 24 101 --- --- --- --- CCER2 643669 broad.mit.edu 37 19 39401523 39401523 + Frame_Shift_Del DEL G G - TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chr19:39401523delG ENST00000571838.1 - 4 390 c.391delC c.(391-393)acfs p.H131fs NM_001243212.1 NP_001230141.1 tcctcctGGTGGAGCTGGCGA 0.607 2 4 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa bf3f00fe-80a5-4073-9cec-7cd17e903da5 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 2 --- --- --- ---