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 CNTN4 152330 broad.mit.edu 37 3 2967357 2967357 + Missense_Mutation SNP C C G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr3:2967357C>G ENST00000397461.1 + 12 1636 c.1252C>G c.(1252-1254)Ctt>Gtt p.L418V CNTN4_ENST00000418658.1_Missense_Mutation_p.L418V|CNTN4_ENST00000397459.2_Missense_Mutation_p.L90V|CNTN4_ENST00000427331.1_Missense_Mutation_p.L418V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.L199V|CNTN4_ENST00000448906.2_Missense_Mutation_p.L90V NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 418 Ig-like C2-type 5. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) AAGAGTAACTCTTGTCAAAGT 0.363000 17 123 0 0 1 0 0 AP5M1 55745 broad.mit.edu 37 14 57749707 57749707 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr14:57749707C>T ENST00000261558.3 + 5 1550 c.1144C>T c.(1144-1146)Cga>Tga p.R382* AP5M1_ENST00000431972.2_Nonsense_Mutation_p.R396*|AP5M1_ENST00000556723.1_3'UTR NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 382 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex TGAAGTATTTCGAGAGAAAAG 0.269000 21 193 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11725892 11725892 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr2:11725892C>T ENST00000381486.2 + 9 1320 c.1020C>T c.(1018-1020)agC>agT p.S340S GREB1_ENST00000381483.2_Silent_p.S340S|GREB1_ENST00000234142.5_Silent_p.S340S|GREB1_ENST00000263834.5_Silent_p.S340S NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 340 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TCCTAGAGAGCGCAGGCATGT 0.537000 6 59 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99690434 99690434 + Missense_Mutation SNP C C A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr11:99690434C>A ENST00000524871.1 + 4 505 c.215C>A c.(214-216)gCa>gAa p.A72E CNTN5_ENST00000528682.1_Missense_Mutation_p.A72E|CNTN5_ENST00000527185.1_Missense_Mutation_p.A72E|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.A72E NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 72 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TGGCTAGGGGCAGCTCAGAAT 0.433000 7 68 0.0293803 0.0312332 1 1 0 FAT3 120114 broad.mit.edu 37 11 92615993 92615993 + Missense_Mutation SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr11:92615993G>T ENST00000298047.6 + 23 12388 c.12371G>T c.(12370-12372)tGc>tTc p.C4124F FAT3_ENST00000409404.2_Missense_Mutation_p.C4124F|FAT3_ENST00000533797.1_Missense_Mutation_p.C459F|FAT3_ENST00000525166.1_Missense_Mutation_p.C3974F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4124 EGF-like 4; calcium-binding (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCTGCAACTGCACGCCGGGC 0.632000 TCGA Ovarian(4;0.039) 8 19 0.0381472 0.0401908 1 1 0 ZNF813 126017 broad.mit.edu 37 19 53994426 53994426 + Missense_Mutation SNP C C G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr19:53994426C>G ENST00000396403.4 + 4 1068 c.940C>G c.(940-942)Ctt>Gtt p.L314V ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) CAAATCAAACCTTAAAAGACA 0.398000 9 171 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 5 36 0 0 1 0 0 GADD45B 4616 broad.mit.edu 37 19 2477210 2477210 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr19:2477210C>T ENST00000215631.4 + 3 562 c.330C>T c.(328-330)ggC>ggT p.G110G GADD45B_ENST00000587345.1_Silent_p.G110G NM_015675.3 NP_056490.2 O75293 GA45B_HUMAN growth arrest and DNA-damage-inducible, beta 110 activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress cervix(2)|lung(1)|ovary(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGACCCAGGGCACCACCGAGG 0.672000 OREG0025141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 43 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168101531 168101531 + Missense_Mutation SNP A A T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr2:168101531A>T ENST00000409195.1 + 9 3718 c.3629A>T c.(3628-3630)gAt>gTt p.D1210V XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D988V|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1210V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1035 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAGTCCTTAGATTCTATAAGT 0.328000 19 48 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37486603 37486603 + Missense_Mutation SNP A A G rs1571234 by1000genomes TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr9:37486603A>G ENST00000377792.3 + 1 454 c.166A>G c.(166-168)Aca>Gca p.T56A POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 56 T -> A (in Ref. 1; BAC03629). rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CCCCATTCTGACACTCCCTCC 0.562000 6 51 0 0 1 0 0 BPIFB4 149954 broad.mit.edu 37 20 31685464 31685464 + Missense_Mutation SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr20:31685464G>T ENST00000375483.3 + 11 1440 c.1440G>T c.(1438-1440)agG>agT p.R480S NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 480 cytoplasm|extracellular region lipid binding TTATCATCAGGATCCAGGTGC 0.602000 9 179 0.0581538 0.0607269 1 1 0 AGPAT3 56894 broad.mit.edu 37 21 45389028 45389028 + Silent SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr21:45389028G>T ENST00000398063.2 + 4 870 c.378G>T c.(376-378)ctG>ctT p.L126L AGPAT3_ENST00000398058.1_Silent_p.L126L|AGPAT3_ENST00000291572.8_Silent_p.L126L|AGPAT3_ENST00000327505.2_Silent_p.L126L|AGPAT3_ENST00000546158.1_Silent_p.L126L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Silent_p.L126L NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 126 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) AGAAGGAGCTGCTCTACGTGC 0.627000 9 62 0.00448238 0.00485249 1 1 0 ZSCAN18 65982 broad.mit.edu 37 19 58596344 58596344 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr19:58596344G>A ENST00000240727.6 - 7 1640 c.1241C>T c.(1240-1242)gCc>gTc p.A414V ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A278V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A414V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A470V NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 414 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CTCGCCGCAGGCATAGGGCTT 0.726000 3 19 0 0 1 0 0 ZBED2 79413 broad.mit.edu 37 3 111312457 111312457 + Missense_Mutation SNP C C G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr3:111312457C>G ENST00000317012.4 - 2 1600 c.592G>C c.(592-594)Gag>Cag p.E198Q CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000283285.5_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 198 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 GCCTCCTTCTCAGCCCTCACC 0.532000 16 98 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 5 39 0 0 1 0 0 PARP3 10039 broad.mit.edu 37 3 51981894 51981894 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr3:51981894G>A ENST00000417220.2 + 11 1903 c.1415G>A c.(1414-1416)cGa>cAa p.R472Q PARP3_ENST00000486510.1_3'UTR|PARP3_ENST00000431474.1_Missense_Mutation_p.R472Q|PARP3_ENST00000398755.3_Missense_Mutation_p.R479Q Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 472 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GTCATTGCCCGAGGCCACACC 0.607000 21 169 0 0 1 0 0 FBXL20 84961 broad.mit.edu 37 17 37453402 37453402 + Missense_Mutation SNP C C G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:37453402C>G ENST00000264658.6 - 6 636 c.376G>C c.(376-378)Ggg>Cgg p.G126R FBXL20_ENST00000583610.1_Missense_Mutation_p.G126R|FBXL20_ENST00000577399.1_Missense_Mutation_p.G128R|FBXL20_ENST00000394294.3_Missense_Mutation_p.G126R NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 126 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) TTTGTACACCCATTTAGATTC 0.368000 5 50 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52896752 52896752 + Silent SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:52896752G>A ENST00000371544.3 - 28 4903 c.4641C>T c.(4639-4641)caC>caT p.H1547H ZCCHC11_ENST00000257177.4_Silent_p.H1548H NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 1547 Pro-rich. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AGTGTCCATCGTGAGACGTGT 0.512000 10 84 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678603 37678603 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr13:37678603C>T ENST00000379800.3 - 1 1200 c.791G>A c.(790-792)cGt>cAt p.R264H NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 264 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GCGCAGCCCACGACAGTAGTT 0.428000 11 127 0 0 1 0 0 BPHL 670 broad.mit.edu 37 6 3140675 3140675 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr6:3140675C>T ENST00000380375.3 + 7 1313 c.669C>T c.(667-669)caC>caT p.H223H BPHL_ENST00000380379.5_Silent_p.H240H|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380368.2_3'UTR|BPHL_ENST00000434640.1_Silent_p.H223H Q86WA6 BPHL_HUMAN biphenyl hydrolase-like (serine hydrolase) 240 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6) 13 Ovarian(93;0.0386) all_hematologic(90;0.108) TGATTGTGCACGGTGAGAAGG 0.572000 56 171 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113654 94113654 + Silent SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr11:94113654G>A ENST00000243673.2 - 4 1104 c.933C>T c.(931-933)taC>taT p.Y311Y GPR83_ENST00000539203.2_Silent_p.Y269Y NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 311 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGAGGAGGACGTAGCAGTTGA 0.527000 25 95 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095194 167095194 + Nonsense_Mutation SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:167095194G>T ENST00000361200.2 + 6 992 c.826G>T c.(826-828)Gag>Tag p.E276* DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E276*|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E276* Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 276 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGAGCTCAATGAGAAGTTGAT 0.602000 12 68 0.00136819 0.00149488 1 1 0 TECPR1 25851 broad.mit.edu 37 7 97852365 97852365 + Silent SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr7:97852365G>T ENST00000447648.2 - 21 3164 c.2865C>A c.(2863-2865)ctC>ctA p.L955L TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.L957L Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 955 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGACGGCCCAGAGGGCGATGC 0.677000 4 12 0.00909568 0.00975718 1 1 0 TRANK1 9881 broad.mit.edu 37 3 36875084 36875084 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr3:36875084C>T ENST00000301807.6 - 21 6105 c.4208G>A c.(4207-4209)cGc>cAc p.R1403H TRANK1_ENST00000429976.2_Missense_Mutation_p.R1953H|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1403H NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1953 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CACATTGAGGCGGGCGGCCCC 0.577000 5 37 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39545272 39545272 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr14:39545272C>T ENST00000537403.1 - 4 1450 c.248G>A c.(247-249)cGt>cAt p.R83H SEC23A_ENST00000536508.1_Missense_Mutation_p.R159H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R256H|SEC23A_ENST00000307712.6_Missense_Mutation_p.R285H Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 285 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) CATCATGATACGAGCACCAGT 0.353000 6 55 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75331243 75331243 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr10:75331243C>T ENST00000339859.4 - 3 276 c.176G>A c.(175-177)cGt>cAt p.R59H USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.R59H|USP54_ENST00000319786.7_Missense_Mutation_p.R59H|USP54_ENST00000408019.1_Missense_Mutation_p.R59H Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 59 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CCTAAAGCTACGTCGGAAGAT 0.363000 9 80 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377555 44377555 + Missense_Mutation SNP A A G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr19:44377555A>G ENST00000587539.1 - 3 810 c.811T>C c.(811-813)Tac>Cac p.Y271H ZNF404_ENST00000324394.6_Missense_Mutation_p.Y269H NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TTACATTTGTAGGGTTTCACA 0.358000 16 75 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44065004 44065004 + Silent SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr2:44065004G>A ENST00000260645.1 - 2 373 c.234C>T c.(232-234)agC>agT p.S78S ABCG5_ENST00000405322.1_5'UTR|ABCG5_ENST00000543989.1_5'UTR NM_022436.2 NP_071881.1 Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 78 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.S78R(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGATCTGCCCGCTCTCCACGT 0.502000 17 85 0 0 1 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67860095 67860095 + Silent SNP T T G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:67860095T>G ENST00000388833.3 + 10 1400 c.1023T>G c.(1021-1023)gcT>gcG p.A341A TSNAXIP1_ENST00000415766.3_Silent_p.A326A|TSNAXIP1_ENST00000561639.1_Silent_p.A395A NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 341 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) AGATGCTGGCTGAGGGCAAGA 0.637000 13 61 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:39274206C>T ENST00000391413.2 - 1 400 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(5) 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) gcactggggtctgcagcagct 0.652000 5 46 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41206679 41206679 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chrX:41206679C>T ENST00000399959.2 + 16 2739 c.1884C>T c.(1882-1884)caC>caT p.H628H DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Silent_p.H612H|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 628 Gly/Ser-rich. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 gaggtggccacggtagcagca 0.512000 HNSCC(61;0.18) 22 100 0 0 1 0 0 DCAF6 55827 broad.mit.edu 37 1 168013891 168013891 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:168013891G>A ENST00000367840.3 + 15 2006 c.1912G>A c.(1912-1914)Gag>Aag p.E638K DCAF6_ENST00000432587.2_Missense_Mutation_p.E607K|DCAF6_ENST00000367843.3_Missense_Mutation_p.E581K|DCAF6_ENST00000312263.6_Missense_Mutation_p.E561K NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 584 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 AAACCCAGTTGAGAACCATAT 0.363000 19 78 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5042397 5042397 + Silent SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:5042397G>T ENST00000304328.5 + 14 2909 c.48G>T c.(46-48)ctG>ctT p.L16L USP6_ENST00000332776.4_Intron|USP6_ENST00000250066.6_Intron|USP6_ENST00000574788.1_Intron P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 0 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CCCTCCCTCTGGGATCAGCAG 0.662000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 4 36 1 1 1 1 0 REG1P 5969 broad.mit.edu 37 2 79365148 79365148 + RNA SNP C C A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr2:79365148C>A ENST00000444841.1 - 0 110 ATGAGTTGGTCTGAGCCATGC 0.498000 5 14 0.184627 0.186205 1 1 0 RASGRF2 5924 broad.mit.edu 37 5 80381703 80381703 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr5:80381703C>T ENST00000265080.4 + 8 1311 c.1244C>T c.(1243-1245)gCc>gTc p.A415V RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 415 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CTGGAGTTTGCCAAATCAAAG 0.463000 19 65 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17341192 17341192 + Missense_Mutation SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr20:17341192G>T ENST00000262545.2 + 4 727 c.412G>T c.(412-414)Gct>Tct p.A138S PCSK2_ENST00000536609.1_Missense_Mutation_p.A103S|PCSK2_ENST00000377899.1_Missense_Mutation_p.A119S NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 138 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACTGGGCAAGCTGATGGCAC 0.428000 4 10 0.00024832 0.000279064 1 1 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTTCCACTCGGATAAGATGC 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 34 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2778131 2778131 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr12:2778131C>T ENST00000399655.1 + 38 4921 c.4656C>T c.(4654-4656)agC>agT p.S1552S CACNA1C_ENST00000347598.4_Silent_p.S1600S|CACNA1C_ENST00000399617.1_Silent_p.S1552S|CACNA1C_ENST00000399638.1_Silent_p.S1580S|CACNA1C_ENST00000399644.1_Silent_p.S1552S|CACNA1C_ENST00000406454.3_Silent_p.S1552S|CACNA1C_ENST00000399606.1_Silent_p.S1572S|CACNA1C_ENST00000402845.3_Silent_p.S1552S|CACNA1C_ENST00000399597.1_Silent_p.S1552S|CACNA1C_ENST00000399637.1_Silent_p.S1552S|CACNA1C_ENST00000399595.1_Silent_p.S1541S|CACNA1C_ENST00000335762.5_Silent_p.S1577S|CACNA1C_ENST00000399603.1_Silent_p.S1552S|CACNA1C_ENST00000399649.1_Silent_p.S1539S|CACNA1C_ENST00000399591.1_Silent_p.S1541S|CACNA1C_ENST00000327702.7_Silent_p.S1552S|CACNA1C_ENST00000344100.3_Silent_p.S1574S|CACNA1C_ENST00000399621.1_Silent_p.S1552S|CACNA1C_ENST00000399629.1_Silent_p.S1569S|CACNA1C_ENST00000399634.1_Silent_p.S1552S|CACNA1C_ENST00000399601.1_Silent_p.S1552S|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.S1552S NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1600 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTCTGAACAGCGACGGGACAG 0.592000 8 119 0 0 1 0 0 CDK20 23552 broad.mit.edu 37 9 90584223 90584223 + Missense_Mutation SNP C C G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr9:90584223C>G ENST00000375883.3 - 6 972 c.666G>C c.(664-666)aaG>aaC p.K222N CDK20_ENST00000605159.1_Missense_Mutation_p.K222N|CDK20_ENST00000325303.8_Missense_Mutation_p.K243N|CDK20_ENST00000375871.4_Missense_Mutation_p.R181T|CDK20_ENST00000336654.5_Missense_Mutation_p.K235N NM_001170639.1|NM_012119.4|NM_178432.3 NP_001164110.1|NP_036251.2|NP_848519.1 Q8IZL9 CDK20_HUMAN cyclin-dependent kinase 20 243 Protein kinase. cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 GCACCTGCTCCTTAAAGGAGA 0.582000 36 155 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9102000 9102000 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr3:9102000G>A ENST00000383836.3 - 6 1143 c.716C>T c.(715-717)gCc>gTc p.A239V SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.A239V NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 239 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GTCATTCCGGGCCTTTGTGCA 0.483000 T RAF1 pilocytic astrocytoma 12 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179469534 179469534 + Silent SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr2:179469534G>T ENST00000589042.1 - 281 54506 c.54282C>A c.(54280-54282)ggC>ggA p.G18094G TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G16453G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.G9029G|TTN_ENST00000342992.6_Silent_p.G15526G|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.G9221G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.G9154G|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16453 Fibronectin type-III 31. E -> A. 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) TGATTTCACTGCCACCATTAT 0.453000 17 105 9.16793e-09 1.0711e-08 1 1 0 BAIAP3 8938 broad.mit.edu 37 16 1388940 1388940 + Missense_Mutation SNP C C T rs139609870 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:1388940C>T ENST00000324385.5 + 3 432 c.274C>T c.(274-276)Cgc>Tgc p.R92C BAIAP3_ENST00000421665.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R57C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R57C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R57C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R57C NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 92 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) TGCCCACATGCGCCTCATGCT 0.657000 17 123 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043132 20043132 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:20043132C>T ENST00000570682.1 - 2 1287 c.987G>A c.(985-987)ccG>ccA p.P329P NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 329 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 GTGAGTTTGCCGGCGAGATCC 0.473000 8 162 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123456283 123456283 + Silent SNP C C T rs41271441 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr3:123456283C>T ENST00000360772.3 - 9 1074 c.696G>A c.(694-696)acG>acA p.T232T MYLK_ENST00000346322.5_Silent_p.T232T|MYLK_ENST00000475616.1_Silent_p.T232T|MYLK_ENST00000360304.3_Silent_p.T232T|MYLK_ENST00000359169.1_Silent_p.T232T Q15746 MYLK_HUMAN myosin light chain kinase 232 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCACCAGGCACGTGTACACTC 0.567000 28 156 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 107022210 107022210 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr10:107022210G>A ENST00000369701.3 + 26 3792 c.3565G>A c.(3565-3567)Gag>Aag p.E1189K NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 1189 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TACGGAGCCTGAGGAGCTGCT 0.532000 4 58 0 0 1 0 0 KCNK7 10089 broad.mit.edu 37 11 65360664 65360664 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr11:65360664G>A ENST00000340313.4 - 3 959 c.736C>T c.(736-738)Ctc>Ttc p.L246F KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR NM_033347.1 NP_203133.1 Q9Y2U2 KCNK7_HUMAN potassium channel, subfamily K, member 7 246 integral to membrane potassium channel activity|voltage-gated ion channel activity endometrium(1)|liver(1)|lung(1) 3 ATGGCCAAGAGTCCTAGAAGC 0.627000 17 27 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146157911 146157911 + Missense_Mutation SNP A A G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr8:146157911A>G ENST00000276816.4 - 4 448 c.262T>C c.(262-264)Tca>Cca p.S88P ZNF16_ENST00000394909.2_Missense_Mutation_p.S88P NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) TCTGCCTGTGATTCCAAATCT 0.428000 31 154 0 0 1 0 0 C12orf56 115749 broad.mit.edu 37 12 64664467 64664467 + Missense_Mutation SNP G G C TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr12:64664467G>C ENST00000543942.2 - 12 2238 c.1612C>G c.(1612-1614)Caa>Gaa p.Q538E C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.Q378E NM_001170633.1 NP_001164104.1 Q8IXR9 CL056_HUMAN chromosome 12 open reading frame 56 541 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1) 15 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) CTCACCACTTGTTTCACAATA 0.453000 17 50 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559260 1559260 + Missense_Mutation SNP G G A rs143134459 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr20:1559260G>A ENST00000381605.4 - 2 221 c.157C>T c.(157-159)Cgc>Tgc p.R53C SIRPB1_ENST00000262929.5_Missense_Mutation_p.R52C|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R53C|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R53C NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 53 Ig-like V-type. R -> H (in dbSNP:rs2746603). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 ATAGCACAGCGCAGAGTGGCC 0.542000 35 129 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65180278 65180278 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr18:65180278G>A ENST00000310045.7 - 2 3071 c.1598C>T c.(1597-1599)gCg>gTg p.A533V CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 523 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) AAGCCACTGCGCACATTCTCC 0.507000 16 76 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135263564 135263564 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr6:135263564C>T ENST00000265605.2 - 3 493 c.425G>A c.(424-426)cGg>cAg p.R142Q ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R142Q|RP11-349J5.2_ENST00000416448.2_RNA|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R142Q NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 142 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CACCGGGGCCCGCACCGTGTA 0.582000 5 84 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2579489 2579489 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:2579489C>T ENST00000302956.4 + 10 1339 c.1245C>T c.(1243-1245)ctC>ctT p.L415L AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.L385L|AMDHD2_ENST00000413459.3_Silent_p.L415L Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 385 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 TCGTGGTGCTCGACGACTCCC 0.657000 29 115 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110813613 110813613 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr13:110813613C>T ENST00000375820.4 - 49 4687 c.4566G>A c.(4564-4566)tgG>tgA p.W1522* COL4A1_ENST00000467182.1_5'UTR NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1522 Collagen IV NC1. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GGGTGGACAGCCAGTACGAGT 0.507000 6 58 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618705 141618705 + Missense_Mutation SNP A A T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr7:141618705A>T ENST00000548136.1 + 1 89 c.30A>T c.(28-30)gaA>gaT p.E10D MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) GTGCCACTGAATTTTATCTCC 0.373000 48 218 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267534 71267534 + Missense_Mutation SNP G G A rs148675299 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr14:71267534G>A ENST00000554752.2 - 2 669 c.670C>T c.(670-672)Cgt>Tgt p.R224C MAP3K9_ENST00000381250.4_Missense_Mutation_p.R224C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R224C P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 224 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GGTCCTCCACGAGCAAACTCC 0.512000 25 102 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6677918 6677918 + Missense_Mutation SNP A A G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr19:6677918A>G ENST00000245907.6 - 41 5059 c.4967T>C c.(4966-4968)aTg>aCg p.M1656T C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1656 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AAAGACAACCATGCTCTCGGT 0.557000 23 54 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47813190 47813190 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr18:47813190C>T ENST00000285106.6 - 2 756 c.42G>A c.(40-42)ggG>ggA p.G14G CXXC1_ENST00000589940.1_Silent_p.G14G|CXXC1_ENST00000587396.1_5'UTR|CXXC1_ENST00000412036.2_Silent_p.G14G NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 14 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 TGCTGTCCTCCCCGGCATCTG 0.607000 6 102 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809387 18809387 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:18809387G>A ENST00000400664.1 + 1 1964 c.1912G>A c.(1912-1914)Gtc>Atc p.V638I NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 638 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGAAATCTTCGTCACCGGCGG 0.711000 5 28 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262142 140262142 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr5:140262142G>A ENST00000289272.2 + 1 289 c.289G>A c.(289-291)Ggg>Agg p.G97R PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G97R NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGTGTGGGCGGAGCGC 0.567000 61 230 0 0 1 0 0 HDAC5 10014 broad.mit.edu 37 17 42158136 42158136 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:42158136C>T ENST00000225983.6 - 21 3048 c.2725G>A c.(2725-2727)Gaa>Aaa p.E909K HDAC5_ENST00000393622.2_Missense_Mutation_p.E908K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E823K|HDAC5_ENST00000586802.1_Missense_Mutation_p.E908K Q9UQL6 HDAC5_HUMAN histone deacetylase 5 908 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) TGTACCTCTTCAGGAGCCCCA 0.602000 15 107 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 4 17 0 0 1 0 0 ZNF778 197320 broad.mit.edu 37 16 89294664 89294664 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:89294664C>T ENST00000433976.2 + 6 2216 c.1884C>T c.(1882-1884)tcC>tcT p.S628S RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.S586S NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 628 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) CCTTTGCTTCCTCCTCACACC 0.493000 7 83 0 0 1 0 0 WBSCR27 155368 broad.mit.edu 37 7 73256457 73256457 + Missense_Mutation SNP T T C TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr7:73256457T>C ENST00000297873.4 - 2 63 c.14A>G c.(13-15)gAg>gGg p.E5G NM_152559.2 NP_689772.2 Q8N6F8 WBS27_HUMAN Williams Beuren syndrome chromosome region 27 5 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) GCTCCCACCCTCCTCCTGGGC 0.677000 6 51 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247175 153247175 + Missense_Mutation SNP T T C TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr4:153247175T>C ENST00000281708.4 - 10 2856 c.1627A>G c.(1627-1629)Aga>Gga p.R543G FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 543 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) GAATAGACTCTATTAGTATGC 0.408000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 64 103 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49776611 49776611 + Silent SNP T T G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr15:49776611T>G ENST00000267843.4 + 4 1106 c.495T>G c.(493-495)gtT>gtG p.V165V FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 165 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity p.V165V(1) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AAATGTTTGTTGCCTTAAATC 0.358000 6 64 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168489 25168489 + RNA SNP G G A rs142860004 by1000genomes TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr13:25168489G>A ENST00000453498.1 + 0 1161 TGAAAGTGCAGTTTTTCTCTT 0.363000 3 24 0 0 1 0 0 PRMT1 3276 broad.mit.edu 37 19 50188182 50188182 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr19:50188182G>A ENST00000532489.1 + 8 1015 c.509G>A c.(508-510)tGg>tAg p.W170* PRMT1_ENST00000391851.4_Nonsense_Mutation_p.W198*|PRMT1_ENST00000454376.2_Nonsense_Mutation_p.W216* Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 197 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) TCCCCAGGGTGGGAGAACGTG 0.642000 OREG0025627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 61 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 4 58 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456266 48456266 + Missense_Mutation SNP T T C TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr3:48456266T>C ENST00000358536.4 - 21 4420 c.4151A>G c.(4150-4152)aAc>aGc p.N1384S PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.N1201S|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.N1384S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.N1201S NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1384 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GTCCTCAGGGTTGAGTGGCTG 0.587000 19 77 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58608604 58608604 + Missense_Mutation SNP C C T rs150528737 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:58608604C>T ENST00000317147.5 - 16 2220 c.1888G>A c.(1888-1890)Gga>Aga p.G630R CNOT1_ENST00000441024.2_Missense_Mutation_p.G630R|CNOT1_ENST00000569240.1_Missense_Mutation_p.G630R NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 630 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol p.G630R(2) breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GGGGCAAGTCCGCCCAAAATA 0.438000 22 81 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51172806 51172806 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:51172806C>T ENST00000440970.1 - 2 3467 c.3036G>A c.(3034-3036)ccG>ccA p.P1012P SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.P1109P|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1109 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAGGCCCAGACGGGACGTGAC 0.562000 16 56 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50342585 50342585 + Missense_Mutation SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:50342585G>T ENST00000394697.2 + 17 2283 c.1943G>T c.(1942-1944)tGc>tTc p.C648F ADCY7_ENST00000566433.2_Missense_Mutation_p.C648F|ADCY7_ENST00000538642.1_Missense_Mutation_p.C648F|ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000254235.3_Missense_Mutation_p.C648F P51828 ADCY7_HUMAN adenylate cyclase 7 648 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CAGAGGTGCTGCCCAGCTCGG 0.652000 21 82 4.35082e-09 5.13396e-09 1 1 0 PPL 5493 broad.mit.edu 37 16 4935253 4935253 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:4935253G>A ENST00000345988.2 - 22 3492 c.3403C>T c.(3403-3405)Cgc>Tgc p.R1135C PPL_ENST00000590782.2_Missense_Mutation_p.R1133C NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1135 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCATATTGGCGGGTGAGATCG 0.617000 21 74 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75777732 75777732 + Silent SNP A A G TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr9:75777732A>G ENST00000376911.1 + 6 1392 c.510A>G c.(508-510)tcA>tcG p.S170S ANXA1_ENST00000257497.6_Silent_p.S170S P04083 ANXA1_HUMAN annexin A1 170 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) ACATAACCTCAGACACATCTG 0.328000 5 43 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4322503 4322503 + Nonsense_Mutation SNP C C A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr4:4322503C>A ENST00000337872.4 + 8 1879 c.1758C>A c.(1756-1758)tgC>tgA p.C586* ZBTB49_ENST00000538529.1_Nonsense_Mutation_p.C69*|ZBTB49_ENST00000355834.3_Nonsense_Mutation_p.C464* NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C586*(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 AGATGCACTGCAAAGCTGGTG 0.562000 6 56 2.0095e-06 2.28001e-06 1 1 0 SDAD1P1 157489 broad.mit.edu 37 8 26238246 26238246 + RNA SNP G G A rs3195624 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr8:26238246G>A ENST00000519902.1 - 0 1702 CTGTTGGTCCGTCATCCTCAG 0.418000 11 123 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61468572 61468572 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr20:61468572G>A ENST00000343916.3 + 30 1744 c.1741G>A c.(1741-1743)Gga>Aga p.G581R COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 581 Triple-helical region 2 (COL2). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) AGGACCCCCTGGATACCGCGG 0.672000 19 153 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88580599 88580599 + Nonsense_Mutation SNP C C A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr4:88580599C>A ENST00000339673.6 + 5 251 c.152C>A c.(151-153)tCa>tAa p.S51* RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Intron|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 51 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AGTGAGTCATCAGAAGGCAGT 0.348000 33 68 2.68265e-12 3.26343e-12 1 1 0 HES4 57801 broad.mit.edu 37 1 934936 934936 + Silent SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:934936G>A ENST00000428771.2 - 2 538 c.340C>T c.(340-342)Ctg>Ttg p.L114L HES4_ENST00000304952.6_Silent_p.L88L|HES4_ENST00000484667.2_Silent_p.L56L NM_001142467.1|NM_021170.3 NP_001135939.1|NP_066993.1 Q9HCC6 HES4_HUMAN hes family bHLH transcription factor 4 88 Orange. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding lung(2) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGGCTCCGCAGGTGTCTCACG 0.741000 5 40 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20130899 20130899 + Silent SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:20130899G>A ENST00000395530.2 + 3 2002 c.1794G>A c.(1792-1794)aaG>aaA p.K598K SPECC1_ENST00000395525.3_Silent_p.K598K|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395522.2_Silent_p.K598K|SPECC1_ENST00000395529.3_Silent_p.K679K|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.K679K|SPECC1_ENST00000395527.4_Silent_p.K679K|SPECC1_ENST00000536879.1_Silent_p.K19K|SPECC1_ENST00000584527.1_Silent_p.K97K NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 679 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) GGGCTGTCAAGTTACACAATA 0.463000 7 62 0 0 1 0 0 NASP 4678 broad.mit.edu 37 1 46080809 46080809 + Missense_Mutation SNP C C G rs139279656 byFrequency TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:46080809C>G ENST00000350030.3 + 10 1878 c.1791C>G c.(1789-1791)aaC>aaG p.N597K NASP_ENST00000537798.1_Missense_Mutation_p.N533K|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000402363.3_Missense_Mutation_p.N599K|NASP_ENST00000372052.4_Missense_Mutation_p.N231K|NASP_ENST00000351223.3_Missense_Mutation_p.N258K NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 597 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) ATGGGTACAACTCTCAGTATG 0.507000 5 85 0 0 1 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091149 11091149 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr12:11091149C>T ENST00000537503.1 - 1 713 c.658G>A c.(658-660)Gga>Aga p.G220R TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron NM_023922.1 NP_076411.1 Q9NYV8 T2R14_HUMAN taste receptor, type 2, member 14 220 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 CTGGCGTCTCCGGATATTTTG 0.428000 8 98 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149525064 149525064 + RNA SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr7:149525064G>A ENST00000378016.2 + 0 14975 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CACCTTGGGCGTCCCCACCTG 0.667000 4 37 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167364 140167364 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr5:140167364C>T ENST00000504120.2 + 1 1489 c.1489C>T c.(1489-1491)Cgg>Tgg p.R497W PCDHA1_ENST00000378133.3_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R497W NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGTGGAACGGCGGGTGGG 0.672000 15 111 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159177 152159177 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chrX:152159177C>T ENST00000439251.1 - 2 1404 c.966G>A c.(964-966)atG>atA p.M322I PNMA5_ENST00000361887.5_Missense_Mutation_p.M322I|PNMA5_ENST00000452693.1_Missense_Mutation_p.M322I|PNMA5_ENST00000535214.1_Missense_Mutation_p.M322I NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 322 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GAATGAGCTTCATTAACTCCA 0.557000 11 117 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203807531 203807531 + Silent SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr2:203807531C>T ENST00000320443.8 + 4 1190 c.147C>T c.(145-147)atC>atT p.I49I CARF_ENST00000545253.1_Intron|CARF_ENST00000545262.1_Intron|CARF_ENST00000402905.2_Silent_p.I49I|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000428585.1_Intron|CARF_ENST00000456821.2_Silent_p.I37I|CARF_ENST00000444724.1_Silent_p.I49I|CARF_ENST00000434998.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000438828.2_Silent_p.I49I calcium responsive transcription factor TTTTGCCCATCACTACTCGTG 0.413000 17 61 0 0 1 0 0 SPRY1 10252 broad.mit.edu 37 4 124323326 124323326 + Missense_Mutation SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr4:124323326G>T ENST00000394339.2 + 2 920 c.580G>T c.(580-582)Gct>Tct p.A194S SPRY1_ENST00000339241.1_Missense_Mutation_p.A194S NM_001258039.1|NM_005841.2 NP_001244968.1|NP_005832.1 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling (Drosophila) 194 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 AGAATGCACTGCTCCCAGGAC 0.507000 10 125 7.48243e-07 8.5721e-07 1 1 0 HOXB3 3213 broad.mit.edu 37 17 46629806 46629806 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:46629806C>T ENST00000470495.1 - 1 1478 c.31G>A c.(31-33)Gcg>Acg p.A11T HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.A11T|HOXB3_ENST00000498678.1_Missense_Mutation_p.A11T|HOXB3_ENST00000476342.1_Missense_Mutation_p.A11T|HOXB3_ENST00000472863.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron P14651 HXB3_HUMAN homeobox B3 11 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 AGAGCAGCCGCGGCGTTGTCG 0.622000 12 42 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 113979878 113979878 + Missense_Mutation SNP C C T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr13:113979878C>T ENST00000375430.4 - 7 1065 c.1019G>A c.(1018-1020)gGg>gAg p.G340E GRTP1_ENST00000326039.3_Missense_Mutation_p.G262E|GRTP1_ENST00000375431.4_Intron Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 0 intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CCACTGGTGCCCGTCCTGTGC 0.701000 6 14 0 0 1 0 0 GP1BA 2811 broad.mit.edu 37 17 4836833 4836833 + Missense_Mutation SNP G G C TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr17:4836833G>C ENST00000329125.5 + 2 1009 c.934G>C c.(934-936)Gtc>Ctc p.V312L NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 312 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 AAGGACTGTGGTCAAGTTCCC 0.542000 18 182 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55192224 55192224 + Silent SNP G G A rs141877896 byFrequency TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr5:55192224G>A ENST00000396834.1 + 9 1258 c.762G>A c.(760-762)gcG>gcA p.A254A IL31RA_ENST00000447346.2_Silent_p.A273A|IL31RA_ENST00000396836.2_Silent_p.A273A|IL31RA_ENST00000354961.4_Silent_p.A254A|IL31RA_ENST00000297015.3_Silent_p.A131A|IL31RA_ENST00000490985.1_Silent_p.A131A|IL31RA_ENST00000359040.5_Silent_p.A273A NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 241 Fibronectin type-III 3. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CAGCTGAGGCGGATGGAAGAA 0.527000 7 55 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100200390 100200390 + Missense_Mutation SNP G G A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr12:100200390G>A ENST00000547776.2 - 4 460 c.461C>T c.(460-462)cCg>cTg p.P154L ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.P154L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 154 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TCTAATTGTCGGGTCAGTGAG 0.438000 9 49 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938391 2938391 + Silent SNP C C A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:2938391C>A ENST00000378404.2 + 1 346 c.141C>A c.(139-141)ccC>ccA p.P47P NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 47 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCCAGGCTCCCTCAGCAGAGG 0.607000 5 74 0.000602214 0.00067039 1 1 0 BPI 671 broad.mit.edu 37 20 36952427 36952427 + Missense_Mutation SNP G G T TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr20:36952427G>T ENST00000262865.4 + 8 1013 c.924G>T c.(922-924)aaG>aaT p.K308N CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 308 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) GGGTCTTGAAGATGACCCTTA 0.542000 11 37 0.000673444 0.000742677 1 1 0 SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 7 33 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 9 229 --- --- --- --- LOC101928650 101928650 broad.mit.edu 37 1 170501106 170501107 + RNA DEL GA GA - TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:170501106_170501107delGA ENST00000421020.1 - 0 34_35 RP11-576I22.2_ENST00000456083.1_RNA GAGAAACAATGAGAGAGAGAGA 0.505 2 4 --- --- --- --- KLHL12 59349 broad.mit.edu 37 1 202888952 202888953 + Frame_Shift_Ins INS - - TGTG TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr1:202888952_202888953insTGTG ENST00000367261.3 - 3 497_498 c.279_280insCACA c.(277-282)acaaacfs p.N94fs KLHL12_ENST00000435533.3_Frame_Shift_Ins_p.N132fs NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 94 BTB. Wnt receptor signaling pathway protein binding p.E94K(1) NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) TGTACTGTTTCTGTGTACACAA 0.401 9 111 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1388930 1388931 + Frame_Shift_Ins INS - - CA rs71299249 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr4:1388930_1388931insCA ENST00000324803.4 + 1 3591_3592 c.631_632insCA c.(631-633)acafs p.T211fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 211 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) GCCTGCCTGCTCACACGTGCCC 0.663 9 165 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187524392 187524393 + Frame_Shift_Ins INS - - TGTGT TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr4:187524392_187524393insTGTGT ENST00000441802.2 - 19 11496_11497 c.11287_11288insACACA c.(11287-11289)cacfs p.-3762fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCTGGCTGTGCTGTGTGTTGAC 0.515 HNSCC(5;0.00058) 13 31 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38749052 38749053 + Frame_Shift_Ins INS - - C TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr6:38749052_38749053insC ENST00000359357.3 + 14 1765_1766 c.1511_1512insC c.(1510-1512)gccfs p.A504fs DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.A504fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.A721fs dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CAGAAAGATGACCCCCCTCTTG 0.381 39 99 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79657436 79657437 + Frame_Shift_Ins INS - - A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr6:79657436_79657437insA ENST00000275034.4 - 36 4276_4277 c.4109_4110insT c.(4108-4110)tgafs p.*1370fs PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1370 Bromo 2. insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TCCCAGCCTCTAAAGTTTCTCT 0.376 12 99 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100384030 100384033 + RNA DEL TTGT TTGT - rs71973809 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr7:100384030_100384033delTTGT ENST00000542585.1 + 0 7124 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ttttcttttcttgtttgtttgttt 0.505 2 4 --- --- --- --- IGHJ6 28475 broad.mit.edu 37 14 106329451 106329453 + RNA DEL GTA GTA - rs2338628 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr14:106329451_106329453delGTA ENST00000390560.2 - 0 15_17 AGACGTCCATGTAGTAGTAGTAG 0.537 7 141 --- --- --- --- APOBR 55911 broad.mit.edu 37 16 28507398 28507424 + In_Frame_Del DEL GGGACAGCCTCAGGAGGGGAGGAGGCC GGGACAGCCTCAGGAGGGGAGGAGGCC - rs71657822 TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr16:28507398_28507424delGGGACAGCCTCAGGAGGGGAGGAGGCC ENST00000564831.1 + 2 1069_1095 c.1036_1062delGGGACAGCCTCAGGAGGGGAGGAGGCC c.(1036-1062)del p.GTASGGEEA355del APOBR_ENST00000431282.1_Splice_Site_p.346_splice|APOBR_ENST00000328423.5_Splice_Site_p.346_splice NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 355 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CGGGGAGGCTGGGACAGCCTCAGGAGGGGAGGAGGCCGGGACAGCCT 0.705 7 26 --- --- --- --- LL22NC03-86D4.1 105373010 broad.mit.edu 37 22 34492099 34492099 + RNA DEL G G - TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6524812b-4120-4ec8-addf-84f32c91740a c02303bf-9254-4df8-9257-7caebbcf1d2a g.chr22:34492099delG ENST00000412218.1 + 0 114 gtttTTTTTTGTTTTTGTTTT 0.363 4 6 --- --- --- ---