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 GFPT1 2673 broad.mit.edu 37 2 69554110 69554110 + Missense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr2:69554110C>T ENST00000357308.4 - 19 2169 c.1991G>A c.(1990-1992)gGc>gAc p.G664D GFPT1_ENST00000361060.4_Missense_Mutation_p.G646D NM_001244710.1 NP_001231639.1 Q06210 GFPT1_HUMAN glutamine--fructose-6-phosphate transaminase 1 664 SIS 2. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 GCTGAGAATGCCCTGCAAGCA 0.488000 4 131 0 0 0.000602 0 0 SYNJ2BP 55333 broad.mit.edu 37 14 70842422 70842422 + Missense_Mutation SNP A A G TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr14:70842422A>G ENST00000256366.4 - 3 349 c.268T>C c.(268-270)Tat>Cat p.Y90H SYNJ2BP_ENST00000554216.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) GACACAGCATAGCCTGCATTA 0.473000 6 195 0 0 0.001984 0 0 PLCXD3 345557 broad.mit.edu 37 5 41381990 41381990 + Silent SNP G G T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr5:41381990G>T ENST00000377801.3 - 2 824 c.750C>A c.(748-750)acC>acA p.T250T PLCXD3_ENST00000328457.3_Silent_p.T250T Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 250 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TAGCTTTGGGGGTCAGCACCA 0.463000 38 130 5.44703e-19 7.13301e-19 0.002222 1 0 C1orf65 164127 broad.mit.edu 37 1 223568185 223568185 + Missense_Mutation SNP C C A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr1:223568185C>A ENST00000366875.3 + 1 1471 c.1368C>A c.(1366-1368)ttC>ttA p.F456L NM_152610.2 NP_689823.2 Q8N715 CA065_HUMAN chromosome 1 open reading frame 65 456 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) AACAAAGTTTCCAGCGGTCCC 0.607000 15 55 4.7546e-09 5.68485e-09 0.004007 1 0 HIST1H1C 3006 broad.mit.edu 37 6 26056346 26056346 + Missense_Mutation SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr6:26056346G>A ENST00000343677.2 - 1 353 c.311C>T c.(310-312)tCc>tTc p.S104F NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 104 H15. nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 GAGTTTAAAGGAGCCAGAAGC 0.527000 46 164 0 0 0.003610 0 0 GLIS3 169792 broad.mit.edu 37 9 3828287 3828287 + Silent SNP G G C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr9:3828287G>C ENST00000324333.10 - 10 2506 c.2313C>G c.(2311-2313)gtC>gtG p.V771V GLIS3_ENST00000381971.3_Silent_p.V926V|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 771 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CTTCGGTGTAGACAGAGGAGA 0.562000 11 29 0 0 0.000978 0 0 SYTL2 54843 broad.mit.edu 37 11 85436182 85436182 + Missense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr11:85436182C>T ENST00000359152.5 - 1 2889 c.2890G>A c.(2890-2892)Gta>Ata p.V964I SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V440I|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.V440I NM_206928.2 NP_996811.1 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 0 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GGGCTACATACTGGCTGTACT 0.463000 20 86 0 0 0.002299 0 0 SAGE1 55511 broad.mit.edu 37 X 134988650 134988650 + Nonsense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chrX:134988650C>T ENST00000535938.1 + 7 843 c.676C>T c.(676-678)Cga>Tga p.R226* SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000537770.1_Intron NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 226 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GTTGACTCTTCGACCACGGCG 0.428000 11 287 0 0 0.000978 0 0 IGSF10 285313 broad.mit.edu 37 3 151163027 151163027 + Nonsense_Mutation SNP G G T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr3:151163027G>T ENST00000282466.3 - 4 4741 c.4742C>A c.(4741-4743)tCa>tAa p.S1581* NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1581 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGCAATTTCTGAGTATGGTTT 0.438000 22 187 2.37509e-13 2.96886e-13 0.001523 1 0 WWC1 23286 broad.mit.edu 37 5 167858267 167858267 + Missense_Mutation SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr5:167858267G>A ENST00000265293.4 + 15 2600 c.2098G>A c.(2098-2100)Gtg>Atg p.V700M WWC1_ENST00000521089.1_Missense_Mutation_p.V700M NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 700 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GAATATCCGCGTGGCTGTCCT 0.532000 7 125 0 0 0.001984 0 0 SDK1 221935 broad.mit.edu 37 7 4259754 4259754 + Silent SNP G G T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr7:4259754G>T ENST00000404826.2 + 39 5692 c.5553G>T c.(5551-5553)gtG>gtT p.V1851V SDK1_ENST00000389531.3_Silent_p.V1831V NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1851 Fibronectin type-III 12. cell adhesion integral to membrane p.V1851V(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGAGCAAGGTGGTGACCGTGG 0.567000 22 114 5.26018e-13 6.42911e-13 0.001882 1 0 IGHV3-38 0 broad.mit.edu 37 14 106866707 106866707 + RNA SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr14:106866707C>T ENST00000390618.2 - 0 124 ACACTGGACACCTGCAAACAC 0.537000 4 220 0 0 0.000248 0 0 SLC4A4 8671 broad.mit.edu 37 4 72121038 72121038 + Silent SNP A A C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr4:72121038A>C ENST00000425175.1 + 3 292 c.175A>C c.(175-177)Aga>Cga p.R59R SLC4A4_ENST00000264485.5_Silent_p.R59R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Silent_p.R59R NM_001134742.1 NP_001128214.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 59 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GGAAAAGGAGAGAATCTCTGA 0.448000 7 130 0 0 0.001984 0 0 PPIF 10105 broad.mit.edu 37 10 81113478 81113478 + Missense_Mutation SNP T T C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr10:81113478T>C ENST00000394579.3 + 5 506 c.428T>C c.(427-429)aTg>aCg p.M143T PPIF_ENST00000225174.3_Silent_p.H168H P30405 PPIF_HUMAN peptidylprolyl isomerase F 0 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) ATGGCAAGCATGTTGTGTTCG 0.502000 37 132 0 0 0.002852 0 0 COL4A5 1287 broad.mit.edu 37 X 107840717 107840717 + Silent SNP T T C rs143442986 TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chrX:107840717T>C ENST00000328300.6 + 24 1942 c.1698T>C c.(1696-1698)ccT>ccC p.P566P COL4A5_ENST00000361603.2_Silent_p.P566P NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 566 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGGTTCCCCTGGAGCTCCAG 0.537000 Alport syndrome with Diffuse Leiomyomatosis 6 96 0 0 0.001984 0 0 PYGL 5836 broad.mit.edu 37 14 51378916 51378916 + Nonsense_Mutation SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr14:51378916G>A ENST00000216392.7 - 14 2058 c.1726C>T c.(1726-1728)Cga>Tga p.R576* PYGL_ENST00000544180.2_Nonsense_Mutation_p.R542*|PYGL_ENST00000532462.1_Nonsense_Mutation_p.R576* NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 576 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) AAGAGCTGTCGCTTGTACTCA 0.493000 6 238 0 0 0.001168 0 0 CTR9 9646 broad.mit.edu 37 11 10783517 10783517 + Silent SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr11:10783517C>T ENST00000361367.2 + 7 1191 c.765C>T c.(763-765)gtC>gtT p.V255V NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 255 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAAATGGTGTCCAGCTTCTTT 0.343000 10 55 0 0 0.000978 0 0 NRCAM 4897 broad.mit.edu 37 7 107791186 107791186 + Missense_Mutation SNP A A C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr7:107791186A>C ENST00000379022.4 - 34 4160 c.3690T>G c.(3688-3690)ttT>ttG p.F1230L NRCAM_ENST00000425651.2_Intron|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379028.3_Intron|NRCAM_ENST00000351718.4_Intron Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 0 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CAGAAGAAACAAATGAAAACA 0.289000 10 31 0 0 0.000978 0 0 GPR176 11245 broad.mit.edu 37 15 40093791 40093791 + Missense_Mutation SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr15:40093791G>A ENST00000299092.3 - 4 1285 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C GPR176_ENST00000543580.1_Missense_Mutation_p.R319C|GPR176_ENST00000561100.1_Missense_Mutation_p.R364C NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 364 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CTACCCGAGCGTATGCTGGGT 0.567000 4 164 0 0 0.000248 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 4 157 0 0 0.000248 0 0 SOGA2 23255 broad.mit.edu 37 18 8825636 8825636 + Missense_Mutation SNP G G T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr18:8825636G>T ENST00000359865.3 + 15 4270 c.4128G>T c.(4126-4128)aaG>aaT p.K1376N SOGA2_ENST00000306329.11_Missense_Mutation_p.K1695N|SOGA2_ENST00000518815.1_Missense_Mutation_p.K701N|SOGA2_ENST00000306285.7_Missense_Mutation_p.K701N|SOGA2_ENST00000517570.1_Missense_Mutation_p.K1335N|SOGA2_ENST00000400050.3_Missense_Mutation_p.K1335N NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1686 CCATCGAGAAGGTGCAGGCCA 0.602000 8 25 0.000274275 0.00032096 0.004482 1 0 CDH12 1010 broad.mit.edu 37 5 21752212 21752212 + Silent SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr5:21752212G>A ENST00000382254.1 - 15 3105 c.2019C>T c.(2017-2019)ttC>ttT p.F673F CDH12_ENST00000522262.1_Silent_p.F633F|CDH12_ENST00000504376.2_Silent_p.F673F|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 673 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CCCCGATGTCGAAAGCCTGGG 0.463000 HNSCC(59;0.17) 14 83 0 0 0.003163 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 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 25 71 0 0 0.004656 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 17 19 0 0 0.004007 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64719804 64719804 + Missense_Mutation SNP G G T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chrX:64719804G>T ENST00000338957.4 + 4 1092 c.1025G>T c.(1024-1026)aGc>aTc p.S342I ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S331I NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 331 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CACGGCCCAAGCCTTGAAAAT 0.443000 59 261 1.42676e-28 1.91395e-28 0.003610 1 0 CNGB3 54714 broad.mit.edu 37 8 87683282 87683282 + Missense_Mutation SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr8:87683282G>A ENST00000320005.5 - 4 430 c.383C>T c.(382-384)gCc>gTc p.A128V NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 128 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CTGGGCATCGGCATACTCATT 0.453000 6 443 0 0 0.001984 0 0 NLGN1 22871 broad.mit.edu 37 3 173997002 173997002 + Missense_Mutation SNP A A T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr3:173997002A>T ENST00000457714.1 + 6 1640 c.1211A>T c.(1210-1212)gAt>gTt p.D404V NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.D444V|NLGN1_ENST00000361589.4_Missense_Mutation_p.D404V|NLGN1_ENST00000545397.1_Missense_Mutation_p.D404V NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 421 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GATAGCGATGATGGTATATCA 0.328000 4 115 0 0 0.000602 0 0 KANSL3 55683 broad.mit.edu 37 2 97267954 97267954 + Missense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr2:97267954C>T ENST00000599854.1 - 19 2587 c.2120G>A c.(2119-2121)gGt>gAt p.G707D KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000431828.1_Missense_Mutation_p.G794D|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.G614D NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 820 Ser-rich. V -> I (in dbSNP:rs34406082). GGGCTTCCCACCAGGAGTGGC 0.617000 8 17 0 0 0.003080 0 0 BORA 79866 broad.mit.edu 37 13 73303185 73303185 + Missense_Mutation SNP A A C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr13:73303185A>C ENST00000390667.5 + 2 204 c.107A>C c.(106-108)gAa>gCa p.E36A BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Missense_Mutation_p.N2H NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 36 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding AATCTCCATGAACAAACTCTC 0.328000 61 264 0 0 0.003610 0 0 FCGR1A 2209 broad.mit.edu 37 1 149755784 149755784 + Missense_Mutation SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr1:149755784G>A ENST00000369168.4 + 3 332 c.278G>A c.(277-279)aGt>aAt p.S93N HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA NM_000566.3 NP_000557.1 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor (CD64) 93 Ig-like C2-type 1. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2) 10 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCAGGGCGAAGTGACCCCATA 0.547000 30 105 0 0 0.004289 0 0 COL24A1 255631 broad.mit.edu 37 1 86590808 86590808 + Missense_Mutation SNP G G T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr1:86590808G>T ENST00000370571.2 - 3 1577 c.1211C>A c.(1210-1212)aCa>aAa p.T404K COL24A1_ENST00000436319.1_Missense_Mutation_p.T404K NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 404 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) ATTAGTAATTGTATCTTGTTT 0.348000 14 61 2.62699e-14 3.3601e-14 0.003163 1 0 FASTKD1 79675 broad.mit.edu 37 2 170428527 170428527 + Missense_Mutation SNP G G C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr2:170428527G>C ENST00000453153.2 - 2 359 c.13C>G c.(13-15)Cct>Gct p.P5A FASTKD1_ENST00000453929.2_Missense_Mutation_p.P5A NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 5 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 AGGAAAACAGGTGTTTTTTTC 0.373000 10 41 0 0 0.006214 0 0 RADIL 55698 broad.mit.edu 37 7 4855893 4855893 + Silent SNP G G A TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr7:4855893G>A ENST00000399583.3 - 8 2119 c.1932C>T c.(1930-1932)tcC>tcT p.S644S RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.S404S NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 644 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) GCAGTGTCCCGGAGAAGAAGA 0.657000 16 49 0 0 0.006122 0 0 MXRA5 25878 broad.mit.edu 37 X 3240116 3240116 + Missense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chrX:3240116C>T ENST00000217939.6 - 5 3764 c.3610G>A c.(3610-3612)Gct>Act p.A1204T NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1204 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCCACCCAAGCTGTAGGAACC 0.458000 5 182 0 0 0.000602 0 0 SERPINB12 89777 broad.mit.edu 37 18 61225658 61225658 + Missense_Mutation SNP A A T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr18:61225658A>T ENST00000382768.1 + 2 242 c.242A>T c.(241-243)aAa>aTa p.K81I SERPINB12_ENST00000269491.1_Splice_Site_p.K81_splice Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 81 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 AACAAACAAAAAGTGCTGGCT 0.463000 23 76 0 0 0.004656 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 7 78 0 0 0.003080 0 0 ADC 113451 broad.mit.edu 37 1 33560160 33560160 + Missense_Mutation SNP G G C TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr1:33560160G>C ENST00000294517.6 + 8 1186 c.599G>C c.(598-600)gGc>gCc p.G200A ADC_ENST00000373443.3_Missense_Mutation_p.G200A|ADC_ENST00000358680.3_Intron|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Missense_Mutation_p.G200A|ADC_ENST00000398167.1_Missense_Mutation_p.G200A NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 200 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TTTCACATTGGCAGTGGCTGT 0.587000 24 90 0 0 0.003330 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413659 105413659 + Missense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr14:105413659C>T ENST00000333244.5 - 7 8248 c.8129G>A c.(8128-8130)gGc>gAc p.G2710D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2710 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATCCACCTGGCCAGCCTGGAC 0.607000 88 234 0 0 0.003610 0 0 LY9 4063 broad.mit.edu 37 1 160783602 160783602 + Nonsense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr1:160783602C>T ENST00000263285.5 + 3 661 c.631C>T c.(631-633)Cga>Tga p.R211* LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Nonsense_Mutation_p.R171*|LY9_ENST00000341032.4_Nonsense_Mutation_p.R211*|LY9_ENST00000368040.1_5'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 211 Ig-like C2-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACCGTCTCCCGAACACCATG 0.572000 65 266 0 0 0.003610 0 0 BTNL8 79908 broad.mit.edu 37 5 180338425 180338425 + Missense_Mutation SNP C C T TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr5:180338425C>T ENST00000231229.4 + 3 718 c.484C>T c.(484-486)Cgg>Tgg p.R162W BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R162W|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.R46W NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 162 Ig-like V-type 2. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGTTCCCCCGGCCCACAGC 0.527000 80 358 0 0 0.003610 0 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 15 --- --- --- --- ERBB2IP 55914 broad.mit.edu 37 5 65349867 65349867 + Frame_Shift_Del DEL A A - TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr5:65349867delA ENST00000284037.5 + 21 3110 c.2721delA c.(2719-2721)ggfs p.G907fs ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 907 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CTGTTGATGGAAAAAATATAG 0.378 7 2068 --- --- --- --- NOX4 50507 broad.mit.edu 37 11 89106662 89106663 + Splice_Site INS - - A rs56022003 TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr11:89106662_89106663insA ENST00000535633.1 - 12 1313 c.e12-2 NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity p.?(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AGTTGGACACTAAAAAAAAATA 0.292 9 206 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 5 10 --- --- --- --- C17orf82 388407 broad.mit.edu 37 17 59489871 59489877 + Frame_Shift_Del DEL GGCCTCG GGCCTCG - TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chr17:59489871_59489877delGGCCTCG ENST00000335108.2 + 1 760_766 c.535_541delGGCCTCG c.(535-543)ggfs p.GLG179fs NM_203425.1 NP_982249.1 Q86X59 CQ082_HUMAN chromosome 17 open reading frame 82 179 cervix(1)|lung(1) 2 AGCCCGCCCAGGCCTCGGGCCTCGGCA 0.734 4 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939056 76939060 + Frame_Shift_Del DEL ATTTA ATTTA - TCGA-DU-5851-01A-13D-1893-08 TCGA-DU-5851-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c01a846-2703-42fc-86d0-4bf042d39576 3a33d274-022d-4113-bbe9-559ebc898229 g.chrX:76939056_76939060delATTTA ENST00000373344.5 - 9 1902_1906 c.1688_1692delTAAAT c.(1687-1692)tfs p.LN563fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.LN525fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 563 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTGAAGAAATATTTAATTTTACAGA 0.351 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 75 356 --- --- --- ---