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 SEC14L2 23541 broad.mit.edu 37 22 30812008 30812008 + Silent SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr22:30812008C>T ENST00000312932.9 + 10 1103 c.843C>T c.(841-843)agC>agT p.S281S SEC14L2_ENST00000403484.1_Silent_p.S207S|SEC14L2_ENST00000402592.3_Silent_p.S198S|RP4-539M6.19_ENST00000439838.1_Silent_p.S115S|SEC14L2_ENST00000405717.3_Silent_p.S281S NM_012429.3 NP_036561.1 O76054 S14L2_HUMAN SEC14-like 2 (S. cerevisiae) 281 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 10 Vitamin E(DB00163) ATGAACACAGCGTGCAGATTT 0.557000 21 53 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42821993 42821993 + Nonsense_Mutation SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr19:42821993C>T ENST00000598766.1 + 12 1105 c.1105C>T c.(1105-1107)Cag>Tag p.Q369* TMEM145_ENST00000301204.3_Nonsense_Mutation_p.Q345* Q8NBT3 TM145_HUMAN transmembrane protein 145 345 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) TCCTGAGAAGCAGCCTTTTTA 0.597000 6 70 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144906087 144906087 + Missense_Mutation SNP T T C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr1:144906087T>C ENST00000529945.1 - 15 3474 c.3035A>G c.(3034-3036)cAa>cGa p.Q1012R PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q986R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q915R|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q636R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q986R|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q1012R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q849R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q849R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 849 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAAATTTCTTGACCCTGGGA 0.353000 T PDGFRB MPD 10 98 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20084907 20084907 + Missense_Mutation SNP T T A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr16:20084907T>A ENST00000570682.1 - 1 332 c.32A>T c.(31-33)aAc>aTc p.N11I NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 11 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 CAGCGAGCTGTTGGCTGCGAG 0.697000 5 11 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 3 23 0 0 1 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 3 24 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582584 120582584 + Silent SNP T T C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr12:120582584T>C ENST00000300648.6 - 41 5223 c.5211A>G c.(5209-5211)ccA>ccG p.P1737P NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1737 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCACGATTTCTGGCATCAACT 0.517000 58 103 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128588791 128588791 + Missense_Mutation SNP G G T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr7:128588791G>T ENST00000402030.2 + 9 1488 c.1416G>T c.(1414-1416)caG>caT p.Q472H IRF5_ENST00000249375.4_Missense_Mutation_p.Q472H|IRF5_ENST00000477535.1_Missense_Mutation_p.Q386H|IRF5_ENST00000473745.1_Missense_Mutation_p.Q472H|IRF5_ENST00000357234.5_Missense_Mutation_p.Q488H NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 472 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 AGCGGTTGCAGCCTGTGGCCC 0.597000 39 72 1.36161e-19 1.48176e-19 1 1 0 SLC9A3R1 9368 broad.mit.edu 37 17 72759553 72759553 + Silent SNP C C A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr17:72759553C>A ENST00000262613.5 + 3 846 c.651C>A c.(649-651)tcC>tcA p.S217S SLC9A3R1_ENST00000413388.2_Silent_p.S61S NM_004252.4 NP_004243.1 O14745 NHRF1_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 217 PDZ 2. apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association large_intestine(4) 4 ACGTGGTGTCCGCCATCAGGG 0.622000 7 14 1.12685e-05 1.15815e-05 1 1 0 DOCK7 85440 broad.mit.edu 37 1 63042965 63042965 + Missense_Mutation SNP G G C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr1:63042965G>C ENST00000251157.5 - 18 2113 c.2080C>G c.(2080-2082)Cca>Gca p.P694A DOCK7_ENST00000340370.5_Missense_Mutation_p.P694A NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 694 DHR-1. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GCCTGTGGTGGTTTTTCCAAT 0.373000 15 36 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46314729 46314729 + Missense_Mutation SNP T T C TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr4:46314729T>C ENST00000510861.1 - 5 433 c.260A>G c.(259-261)tAt>tGt p.Y87C GABRA2_ENST00000540012.1_Missense_Mutation_p.Y32C|GABRA2_ENST00000514090.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000381620.4_Missense_Mutation_p.Y87C|GABRA2_ENST00000356504.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000515082.1_Missense_Mutation_p.Y87C|GABRA2_ENST00000507069.1_Missense_Mutation_p.Y87C P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 87 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATCAATTGTATATTCCTGAAA 0.249000 5 24 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110951558 110951558 + Silent SNP A A G TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chrX:110951558A>G ENST00000394780.3 + 4 699 c.687A>G c.(685-687)ttA>ttG p.L229L ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Silent_p.L125L NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 229 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TAGGCAGCTTAGGGCTGTTTC 0.453000 9 56 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130282318 130282318 + Silent SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr3:130282318C>T ENST00000358511.6 + 2 502 c.471C>T c.(469-471)gaC>gaT p.D157D COL6A6_ENST00000453409.2_Silent_p.D157D NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 157 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen p.D157D(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGCGGAAAGACGGAGTGAAAA 0.493000 4 39 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c 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 6 23 0 0 1 0 0 ECSIT 51295 broad.mit.edu 37 19 11618516 11618516 + Splice_Site SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr19:11618516C>T ENST00000270517.7 - 6 1081 c.e6+1 ECSIT_ENST00000417981.2_Splice_Site|ECSIT_ENST00000592312.1_Splice_Site|ECSIT_ENST00000591104.1_Splice_Site|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Intron NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 TAAGCCCTCACCCTCTCCTCC 0.612000 22 42 0 0 1 0 0 RP11-119F19.2 0 broad.mit.edu 37 10 81443180 81443180 + RNA SNP G G A rs150662545 by1000genomes TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr10:81443180G>A ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAGCCCCTCGCTGCTTAGGC 0.547000 3 19 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115998001 115998001 + Silent SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr4:115998001C>T ENST00000264363.2 - 2 870 c.192G>A c.(190-192)gaG>gaA p.E64E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 64 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTGTTTTCAGCTCCATTGACC 0.408000 7 69 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179620127 179620127 + Silent SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr1:179620127C>T ENST00000444136.1 + 12 2176 c.1926C>T c.(1924-1926)aaC>aaT p.N642N TDRD5_ENST00000294848.8_Silent_p.N642N|TDRD5_ENST00000367614.1_Silent_p.N642N NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 642 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CATCCTCAAACGAAGATGTCT 0.413000 5 104 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430333 153430333 + Missense_Mutation SNP G G T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr1:153430333G>T ENST00000368723.3 - 3 365 c.255C>A c.(253-255)gaC>gaA p.D85E S100A7_ENST00000368722.1_Missense_Mutation_p.D85E NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 85 EF-hand 2. angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GCTTGTGGTAGTCTGTGGCTA 0.512000 33 55 6.84511e-11 7.23626e-11 1 1 0 NCOR1 9611 broad.mit.edu 37 17 15995328 15995328 + Silent SNP G G A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr17:15995328G>A ENST00000268712.3 - 22 3122 c.2865C>T c.(2863-2865)agC>agT p.S955S NCOR1_ENST00000395851.1_Silent_p.S971S|NCOR1_ENST00000395848.1_Silent_p.S862S NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 955 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GAGCATAGCCGCTCACTGGGG 0.433000 7 86 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 667249 667249 + Missense_Mutation SNP G G A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr12:667249G>A ENST00000266383.5 + 17 2615 c.2602G>A c.(2602-2604)Gtg>Atg p.V868M NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 868 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CATAGACCTCGTGAAGGTAAA 0.547000 4 49 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110438060 110438060 + Missense_Mutation SNP G G A TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr13:110438060G>A ENST00000375856.3 - 1 855 c.341C>T c.(340-342)gCc>gTc p.A114V NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 114 PH. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GGTGTAGAGGGCGATCAGGTA 0.657000 7 9 0 0 1 0 0 HOXA10 3206 broad.mit.edu 37 7 27211780 27211780 + Missense_Mutation SNP C C T TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr7:27211780C>T ENST00000283921.4 - 2 970 c.971G>A c.(970-972)gGt>gAt p.G324D HOXA10_ENST00000396344.4_Missense_Mutation_p.G8D|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 324 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 TGCGTTTTCACCTTTGGAATT 0.547000 4 62 0 0 1 0 0 SDHAP1 0 broad.mit.edu 37 3 195701310 195701311 + RNA INS - - AA TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr3:195701310_195701311insAA ENST00000427841.1 - 0 1513_1514 NR_003264.2 CATGCCTGACCAGACAACCAGG 0.574 10 48 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888987 65888988 + RNA INS - - T rs77289928 TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr7:65888987_65888988insT ENST00000442578.1 - 0 826 Ctttttttttcttttttttttt 0.485 4 7 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142479817 142479817 + RNA DEL G G - TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chr7:142479817delG ENST00000603901.1 + 0 40 NR_001296.3 TGCTTGTTAAGGATTTCTAAC 0.557 7 94 --- --- --- --- MAGED1 9500 broad.mit.edu 37 X 51637442 51637442 + Frame_Shift_Del DEL C C - TCGA-EL-A4KD-01A-11D-A257-08 TCGA-EL-A4KD-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0776e078-b504-4671-ad37-47aa76f0489c 0424476f-de8a-4644-a8c1-2d301345473c g.chrX:51637442delC ENST00000375695.2 + 2 195 c.42delC c.(40-42)ttfs p.F14fs MAGED1_ENST00000375722.1_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000375772.3_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000326587.7_Frame_Shift_Del_p.F14fs|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 0 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) TCCTCGGCTTCCAGGTGAGAT 0.657 Multiple Myeloma(10;0.10) OREG0019786 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- ---