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 RNF103 7844 broad.mit.edu 37 2 86831209 86831209 + Silent SNP T T C TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr2:86831209T>C ENST00000237455.4 - 4 2783 c.1815A>G c.(1813-1815)gaA>gaG p.E605E AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 605 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 ACCAATCAGGTTCCATATCTT 0.413000 92 151 0 0 0.014410 0 0 CLIP2 7461 broad.mit.edu 37 7 73731911 73731911 + Missense_Mutation SNP G G A rs151111065 byFrequency TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr7:73731911G>A ENST00000223398.6 + 2 362 c.35G>A c.(34-36)cGt>cAt p.R12H CLIP2_ENST00000395060.1_Missense_Mutation_p.R12H|CLIP2_ENST00000361545.5_Missense_Mutation_p.R12H NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 12 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 CCCCCCGGCCGTGGGGGGAAG 0.662000 35 102 0 0 0.003755 0 0 DSG2 1829 broad.mit.edu 37 18 29102122 29102122 + Silent SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr18:29102122C>T ENST00000261590.8 + 6 809 c.600C>T c.(598-600)atC>atT p.I200I DSG2_ENST00000585206.1_Silent_p.I200I NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 200 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CCTATAGAATCGTATCTCTGG 0.378000 17 41 0 0 0.004007 0 0 FBXO36 130888 broad.mit.edu 37 2 230861511 230861511 + Missense_Mutation SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr2:230861511A>G ENST00000373652.3 + 4 578 c.157A>G c.(157-159)Atc>Gtc p.I53V FBXO36_ENST00000283946.3_Missense_Mutation_p.I84V|FBXO36_ENST00000409992.1_Intron Q8NEA4 FBX36_HUMAN F-box protein 36 84 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 7 Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008) AGACTATGTCATCAATTTGTG 0.348000 50 69 0 0 0.014410 0 0 VSIG4 11326 broad.mit.edu 37 X 65247365 65247365 + Missense_Mutation SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chrX:65247365G>A ENST00000455586.2 - 5 887 c.761C>T c.(760-762)aCa>aTa p.T254I VSIG4_ENST00000374737.4_Missense_Mutation_p.T254I|VSIG4_ENST00000412866.2_Missense_Mutation_p.T160I NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 254 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CACTGTAGATGTTGCTATGAA 0.468000 8 14 0 0 0.003080 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 297 0 0 0.001168 0 0 CD97 976 broad.mit.edu 37 19 14508025 14508025 + Silent SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr19:14508025C>T ENST00000242786.5 + 6 695 c.615C>T c.(613-615)acC>acT p.T205T CD97_ENST00000357355.3_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000587728.1_Intron NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 205 EGF-like 4; calcium-binding (Potential). cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CAAACAATACCGTCTGTGAAG 0.587000 96 130 0 0 0.014410 0 0 BCL9L 283149 broad.mit.edu 37 11 118779318 118779318 + Missense_Mutation SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr11:118779318A>G ENST00000334801.3 - 2 1037 c.73T>C c.(73-75)Tcc>Ccc p.S25P BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 25 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) CCGCGGGGGGACAGCGGCGGG 0.592000 3 113 0 0 0.003080 0 0 PLCE1 51196 broad.mit.edu 37 10 96084175 96084175 + Missense_Mutation SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr10:96084175G>A ENST00000260766.3 + 31 7205 c.6571G>A c.(6571-6573)Gaa>Aaa p.E2191K NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371380.2_Missense_Mutation_p.E2191K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1883K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1883K NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 2191 Ras-associating 2. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGTGCTTTTGGAAGAGGTGGT 0.448000 124 141 0 0 0.014410 0 0 MARVELD3 91862 broad.mit.edu 37 16 71668568 71668568 + Silent SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr16:71668568C>T ENST00000268485.3 + 3 1112 c.1068C>T c.(1066-1068)ttC>ttT p.F356F MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron NM_052858.3 NP_443090.4 Q96A59 MALD3_HUMAN MARVEL domain containing 3 356 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) GCTGCAGTTTCCACGGAGCAG 0.542000 41 41 0 0 0.006999 0 0 UNC93B1 81622 broad.mit.edu 37 11 67764189 67764189 + Missense_Mutation SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr11:67764189C>T ENST00000227471.2 - 9 1049 c.970G>A c.(970-972)Ggc>Agc p.G324S UNC93B1_ENST00000530331.1_5'UTR NM_030930.2 NP_112192.2 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 (C. elegans) 325 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome AAGATGTTGCCCCAGCCCACG 0.622000 3 2 0 0 0.009096 0 0 MORN5 254956 broad.mit.edu 37 9 124932034 124932034 + Splice_Site SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr9:124932034A>G ENST00000536616.1 + 3 344 c.307_splice c.e3+1 p.A102_splice MORN5_ENST00000486801.1_Intron|MORN5_ENST00000373764.3_Splice_Site_p.A102_splice Q5VZ52 MORN5_HUMAN MORN repeat containing 5 102 endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 9 TGAAGCCTGCAGGTACCCAGG 0.478000 3 116 0 0 0.004672 0 0 POLG 5428 broad.mit.edu 37 15 89864982 89864982 + Silent SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr15:89864982G>A ENST00000268124.5 - 16 2916 c.2583C>T c.(2581-2583)acC>acT p.T861T POLG_ENST00000442287.2_Silent_p.T861T NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 861 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CATTGCTGGCGGTGAGCCATG 0.602000 DNA polymerases (catalytic subunits) 49 65 0 0 0.014410 0 0 TCP11L2 255394 broad.mit.edu 37 12 106729466 106729466 + Missense_Mutation SNP A A C TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr12:106729466A>C ENST00000299045.3 + 7 996 c.822A>C c.(820-822)gaA>gaC p.E274D NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 274 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 TAAATGAAGAATTATTTTCTC 0.398000 33 36 0 0 0.010818 0 0 RING1 6015 broad.mit.edu 37 6 33178997 33178997 + Missense_Mutation SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr6:33178997A>G ENST00000374656.4 + 5 726 c.518A>G c.(517-519)gAa>gGa p.E173G RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 173 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 AGTGGGGGGGAAGGAGAGCCC 0.632000 4 270 0 0 0.009096 0 0 SRRM3 222183 broad.mit.edu 37 7 75896665 75896665 + Missense_Mutation SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr7:75896665G>A ENST00000388802.4 + 11 1129 c.920G>A c.(919-921)gGa>gAa p.G307E SRRM3_ENST00000326382.8_Missense_Mutation_p.G307E|SRRM3_ENST00000464752.1_3'UTR serine/arginine repetitive matrix 3 NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1) 8 GGCGGCAGCGGATGGGGGTCG 0.751000 3 5 0 0 0.009096 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853498 12853498 + Missense_Mutation SNP T T G rs149824309 TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr1:12853498T>G ENST00000332296.7 + 2 225 c.122T>G c.(121-123)aTg>aGg p.M41R NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 41 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCACTCTTCATGGAGGCCTTC 0.587000 103 36 0 0 0.014410 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47626800 47626800 + Missense_Mutation SNP T T C TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr20:47626800T>C ENST00000371917.4 + 27 3616 c.3616T>C c.(3616-3618)Tgc>Cgc p.C1206R NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1206 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GGCGATCCGCTGCATTGCCCA 0.537000 27 83 0 0 0.003954 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 7 61 0 0 0.001855 0 0 FAM183B 340286 broad.mit.edu 37 7 38725450 38725450 + Silent SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr7:38725450A>G ENST00000409072.3 - 2 1090 c.156T>C c.(154-156)ccT>ccC p.P52P family with sequence similarity 183, member B endometrium(1)|lung(7) 8 GCCAAGACATAGGCTTCCTCG 0.542000 3 133 0 0 0.004672 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 32 34 0 0 0.009535 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84533205 84533205 + RNA SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr9:84533205G>A ENST00000527857.1 + 0 3227 NR_026851.1 AGAAAAGCAGGGGACCCTCAG 0.458000 7 6 0 0 0.004482 0 0 OR1A1 8383 broad.mit.edu 37 17 3119076 3119076 + Silent SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr17:3119076C>T ENST00000304094.1 + 1 162 c.162C>T c.(160-162)cgC>cgT p.R54R NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 CTGATGTTCGCCTTCACAACC 0.458000 7 362 0 0 0.006214 0 0 FRMPD3 84443 broad.mit.edu 37 X 106844942 106844942 + Missense_Mutation SNP C C G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chrX:106844942C>G ENST00000276185.4 + 16 3772 c.3772C>G c.(3772-3774)Cca>Gca p.P1258A Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1258 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TGCCACCTTCCCAACCCGCCA 0.532000 5 135 0 0 0.001168 0 0 RNH1 6050 broad.mit.edu 37 11 498031 498031 + Missense_Mutation SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr11:498031G>A ENST00000534797.1 - 7 2474 c.1067C>T c.(1066-1068)gCg>gTg p.A356V RNH1_ENST00000397614.1_Missense_Mutation_p.A356V|RNH1_ENST00000438658.2_Missense_Mutation_p.A356V|RNH1_ENST00000397604.3_Missense_Mutation_p.A356V|RNH1_ENST00000356187.5_Missense_Mutation_p.A356V|RNH1_ENST00000397615.2_Missense_Mutation_p.A356V|RNH1_ENST00000533410.1_Missense_Mutation_p.A356V|RNH1_ENST00000354420.2_Missense_Mutation_p.A356V P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 1 356 mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCGCACGCCCGCATCCTCCAG 0.612000 4 109 0 0 0.009096 0 0 KCNG2 26251 broad.mit.edu 37 18 77624219 77624219 + Silent SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr18:77624219G>A ENST00000316249.3 + 1 552 c.552G>A c.(550-552)gtG>gtA p.V184V NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 184 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GCGTGTCCGTGTCCTTCGTGG 0.766000 14 33 0 0 0.003163 0 0 PKP1 5317 broad.mit.edu 37 1 201282317 201282317 + Silent SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr1:201282317G>A ENST00000263946.3 + 3 581 c.330G>A c.(328-330)cgG>cgA p.R110R PKP1_ENST00000367324.3_Silent_p.R110R|PKP1_ENST00000352845.3_Silent_p.R110R NM_000299.3 NP_000290.2 Q13835 PKP1_HUMAN plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) 110 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CCCTCAAGCGGGAGCCTGACA 0.592000 6 4 0 0 0.001168 0 0 NT5DC3 51559 broad.mit.edu 37 12 104179169 104179169 + Missense_Mutation SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr12:104179169A>G ENST00000392876.3 - 12 1313 c.1273T>C c.(1273-1275)Tac>Cac p.Y425H NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 425 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 GTTTGAATGTATTGCTCCGTG 0.428000 45 47 0 0 0.013114 0 0 PCDHGA7 0 broad.mit.edu 37 5 140764645 140764645 + Missense_Mutation SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr5:140764645G>A ENST00000518325.1 + 1 2179 c.2179G>A c.(2179-2181)Gct>Act p.A727T PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCTGCAGGCTTCAGAAGG 0.637000 50 42 0 0 0.014410 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413126 139413126 + Missense_Mutation SNP C C G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr9:139413126C>G ENST00000277541.6 - 6 1091 c.1016G>C c.(1015-1017)tGt>tCt p.C339S NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 339 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCGCTGGCACAGTCATCAAT 0.637000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 3 75 0 0 0.004672 0 0 MKLN1 4289 broad.mit.edu 37 7 131128404 131128404 + Silent SNP T T C TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr7:131128404T>C ENST00000352689.6 + 11 1378 c.1338T>C c.(1336-1338)tgT>tgC p.C446C MKLN1_ENST00000421797.2_Silent_p.C354C NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 446 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) AGGACTCCTGTAATGCTGGGC 0.448000 3 93 0 0 0.000602 0 0 DLX5 1749 broad.mit.edu 37 7 96650149 96650149 + Missense_Mutation SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr7:96650149C>T ENST00000222598.4 - 3 1242 c.769G>A c.(769-771)Gca>Aca p.A257T DLX5_ENST00000493764.1_5'UTR NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 257 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TACCAGGATGCAGAGTTCTCC 0.652000 33 32 0 0 0.003271 0 0 LRP1B 53353 broad.mit.edu 37 2 142567938 142567938 + Missense_Mutation SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr2:142567938A>G ENST00000389484.3 - 2 1086 c.115T>C c.(115-117)Tgc>Cgc p.C39R LRP1B_ENST00000486364.1_5'UTR NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 39 LDL-receptor class A 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATCGTGGCAAAGAAATTCA 0.443000 TSP Lung(27;0.18) 22 16 0 0 0.012319 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 28 0 0 0.004672 0 0 LTBP3 4054 broad.mit.edu 37 11 65321228 65321228 + Missense_Mutation SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr11:65321228G>A ENST00000301873.5 - 3 1076 c.808C>T c.(808-810)Ccg>Tcg p.P270S LTBP3_ENST00000322147.4_Missense_Mutation_p.P270S|LTBP3_ENST00000536982.1_Intron NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 270 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 TGGGTGGGCGGCCGGGGGTGC 0.677000 3 15 0 0 0.009096 0 0 SSX6 0 broad.mit.edu 37 X 47969964 47969964 + Missense_Mutation SNP A A G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chrX:47969964A>G ENST00000376932.2 + 3 241 c.167A>G c.(166-168)gAg>gGg p.E56G SSX6_ENST00000319275.3_5'UTR large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 AGAAAGTATGAGGCCATGACT 0.428000 3 94 0 0 0.004672 0 0 KRT34 3885 broad.mit.edu 37 17 39538275 39538275 + Missense_Mutation SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr17:39538275C>T ENST00000394001.1 - 1 380 c.350G>A c.(349-351)cGt>cAt p.R117H NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 117 Coil 1A.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CTCCAGCTGACGCACCTTCTC 0.597000 78 120 0 0 0.014410 0 0 KIAA0368 23392 broad.mit.edu 37 9 114170943 114170943 + Nonsense_Mutation SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr9:114170943G>A ENST00000259335.4 - 25 3093 c.3094C>T c.(3094-3096)Cga>Tga p.R1032* KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.R854* NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 TGGATTGCTCGTTCTTTCATC 0.398000 11 5 0 0 0.010729 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 52 0 0 0.009096 0 0 FAM66D 0 broad.mit.edu 37 8 11985931 11985931 + RNA SNP G G A TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr8:11985931G>A ENST00000434078.2 + 0 608 NR_027425.1 CAGATTCTTGGCAAGTTTGTT 0.493000 21 108 0 0 0.010504 0 0 LINC00471 0 broad.mit.edu 37 2 232373609 232373610 + RNA INS - - AA rs34321159 TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr2:232373609_232373610insAA ENST00000313064.2 - 0 808_809 NR_024079.1 ctctgtctcagaaaaaaaaaaa 0.470 3 3 --- --- --- --- NKD2 85409 broad.mit.edu 37 5 1038447 1038449 + In_Frame_Del DEL CAC CAC - rs3840989 TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr5:1038447_1038449delCAC ENST00000296849.5 + 10 1544_1546 c.1315_1317delCAC c.(1315-1317)del p.H447del NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 447 His-rich. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) ccaccacgagcaccaccaccacc 0.690 2 4 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113102455 113102456 + In_Frame_Ins INS - - CCCTCT TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr11:113102455_113102456insCCCTCT ENST00000316851.7 + 9 1148_1149 c.1148_1149insCCCTCT c.(1147-1149)tat>tCCCTCTat p.382_383insSL NCAM1_ENST00000533760.1_In_Frame_Ins_p.264_265insSL|NCAM1_ENST00000401611.2_In_Frame_Ins_p.391_392insSL|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 392 Ig-like C2-type 4. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GCCGGAGAGTACATCTGCACCG 0.594 9 113 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57523456 57523457 + Splice_Site INS - - T TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr15:57523456_57523457insT ENST00000267811.5 + 9 989 c.e9+1 TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000560764.1_Splice_Site NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TTTATGCAAGGTAAGTACTACC 0.386 T TEC extraskeletal myxoid chondrosarcoma 43 59 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 4 3 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795074 42795075 + Frame_Shift_Ins INS - - G TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chr19:42795074_42795075insG ENST00000572681.2 + 11 4949_4950 c.4881_4882insG c.(4879-4884)ccggggfs p.PG1627fs CIC_ENST00000575354.2_Frame_Shift_Ins_p.PG718fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.PG718fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CTCGGGTGCCTGGGGGCTCCCC 0.644 """Mis, F, S""" oligodendroglioma 12 8 --- --- --- --- FTX 0 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-CS-6668-01A-11D-1893-08 TCGA-CS-6668-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx d414e076-dcb6-4edf-adef-0abdc57354ea 7154a36b-c503-43f5-b291-89bd5ce2875f g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 4 3 --- --- --- ---