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 ULK2 9706 broad.mit.edu 37 17 19720091 19720091 + Missense_Mutation SNP A A C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:19720091A>C ENST00000395544.4 - 13 1566 c.1067T>G c.(1066-1068)gTg>gGg p.V356G ULK2_ENST00000580130.1_Intron|ULK2_ENST00000361658.2_Missense_Mutation_p.V356G NM_014683.3 NP_055498.3 Q8IYT8 ULK2_HUMAN unc-51 like autophagy activating kinase 2 356 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) GTTGTGTGGCACCAAAACAAA 0.398000 37 44 0 0 0.008740 0 0 HLA-F-AS1 0 broad.mit.edu 37 6 29713481 29713481 + RNA SNP G G T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:29713481G>T ENST00000458236.1 - 0 117 AGCACCGTGAGGTTGTAACAA 0.507000 5 36 3.59834e-05 3.90181e-05 0.001168 1 0 OR13A1 79290 broad.mit.edu 37 10 45799644 45799644 + Missense_Mutation SNP G G C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr10:45799644G>C ENST00000553795.1 - 4 535 c.227C>G c.(226-228)cCt>cGt p.P76R OR13A1_ENST00000536058.1_Missense_Mutation_p.P76R|OR13A1_ENST00000374401.2_Missense_Mutation_p.P76R NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 AAAGTACATAGGAGCGTGGAG 0.517000 6 19 0 0 0.001984 0 0 AURKA 6790 broad.mit.edu 37 20 54956513 54956513 + Missense_Mutation SNP C C A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr20:54956513C>A ENST00000395909.4 - 8 1246 c.681G>T c.(679-681)aaG>aaT p.K227N AURKA_ENST00000395915.3_Missense_Mutation_p.K227N|AURKA_ENST00000347343.2_Missense_Mutation_p.K227N|AURKA_ENST00000371356.2_Missense_Mutation_p.K227N|AURKA_ENST00000395907.1_Missense_Mutation_p.K227N|AURKA_ENST00000395914.1_Missense_Mutation_p.K227N|AURKA_ENST00000312783.6_Missense_Mutation_p.K227N|AURKA_ENST00000395911.1_Missense_Mutation_p.K227N|AURKA_ENST00000395913.3_Missense_Mutation_p.K227N NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 227 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) GCTCATCAAACTTTGAAAGTT 0.373000 15 81 9.16793e-09 1.04445e-08 0.004990 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45127107 45127107 + RNA SNP C C G rs147409399 by1000genomes TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:45127107C>G ENST00000575173.1 - 0 418 CCTTCGTTCACCCAAGAGCAT 0.592000 3 64 0 0 0.004672 0 0 CLDN6 9074 broad.mit.edu 37 16 3065807 3065807 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr16:3065807C>T ENST00000396925.1 - 3 644 c.216G>A c.(214-216)gcG>gcA p.A72A CLDN6_ENST00000328796.4_Silent_p.A72A|CLDN6_ENST00000572154.1_Intron P56747 CLD6_HUMAN claudin 6 72 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CCTGTGGCAGCGCCAGCAGTG 0.642000 22 28 0 0 0.010504 0 0 C6orf222 389384 broad.mit.edu 37 6 36290199 36290199 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:36290199G>A ENST00000437635.2 - 9 1669 c.1492C>T c.(1492-1494)Cgg>Tgg p.R498W NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 498 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 AGGGGCTCCCGGCACTCGAGA 0.567000 11 75 0 0 0.010729 0 0 XPNPEP1 7511 broad.mit.edu 37 10 111647887 111647887 + Missense_Mutation SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr10:111647887T>C ENST00000502935.1 - 7 691 c.572A>G c.(571-573)gAg>gGg p.E191G XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E191G|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E77G|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E148G Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble 148 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) AACGAGGTTCTCCTTGACAGG 0.522000 5 17 0 0 0.000602 0 0 GPR125 166647 broad.mit.edu 37 4 22436987 22436987 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr4:22436987C>T ENST00000334304.5 - 10 1659 c.1390G>A c.(1390-1392)Gca>Aca p.A464T GPR125_ENST00000502482.1_Missense_Mutation_p.A464T|GPR125_ENST00000508133.1_Missense_Mutation_p.A238T|GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 464 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) ATCATTTCTGCCACAAATATA 0.393000 11 49 0 0 0.008291 0 0 ZNF833P 0 broad.mit.edu 37 19 11796444 11796444 + RNA SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:11796444A>G ENST00000344893.3 + 0 2443 NR_028594.1 endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 CACTTATCCCAGTGCCTTTCA 0.353000 18 26 0 0 0.006122 0 0 LDLRAD4 753 broad.mit.edu 37 18 13645353 13645353 + Silent SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr18:13645353G>A ENST00000361205.4 + 7 1286 c.618G>A c.(616-618)agG>agA p.R206R RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Silent_p.R169R|LDLRAD4_ENST00000586765.1_Silent_p.R151R|LDLRAD4_ENST00000359446.5_Silent_p.R206R|LDLRAD4_ENST00000592991.1_Silent_p.R108R|LDLRAD4_ENST00000585931.1_Silent_p.R129R|LDLRAD4_ENST00000399848.3_Silent_p.R188R NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 AGTCCGTGAGGGCCCCACCCA 0.582000 8 71 0 0 0.004482 0 0 POSTN 10631 broad.mit.edu 37 13 38153417 38153417 + Silent SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr13:38153417A>G ENST00000379747.4 - 13 1857 c.1740T>C c.(1738-1740)ggT>ggC p.G580G POSTN_ENST00000541481.1_Silent_p.G580G|POSTN_ENST00000379743.4_Silent_p.G580G|POSTN_ENST00000541179.1_Silent_p.G580G|POSTN_ENST00000379749.4_Silent_p.G580G|POSTN_ENST00000379742.4_Silent_p.G580G NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 580 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TGTTAGTAACACCAGGTTCAA 0.333000 11 29 0 0 0.008291 0 0 MAST2 23139 broad.mit.edu 37 1 46474027 46474027 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:46474027A>G ENST00000361297.2 + 9 1245 c.962A>G c.(961-963)aAa>aGa p.K321R MAST2_ENST00000372008.1_Missense_Mutation_p.K206R|MAST2_ENST00000372009.2_Missense_Mutation_p.K321R NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 321 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CATGTTTACAAAGAAAGATTC 0.433000 8 31 0 0 0.003080 0 0 FRK 2444 broad.mit.edu 37 6 116381413 116381413 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:116381413G>A ENST00000606080.1 - 1 508 c.62C>T c.(61-63)aCg>aTg p.T21M NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 21 negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) GTCTGCCTCCGTGGACAAACA 0.537000 9 110 0 0 0.013537 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507115 74507115 + Silent SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:74507115T>C ENST00000354431.4 - 7 1691 c.1500A>G c.(1498-1500)agA>agG p.R500R LRRIQ3_ENST00000395089.1_Silent_p.R500R NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 500 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 ACAGAGCTTTTCTCTCTCTAG 0.338000 6 136 0 0 0.001168 0 0 RXRG 6258 broad.mit.edu 37 1 165386373 165386373 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:165386373C>T ENST00000359842.5 - 4 829 c.527G>A c.(526-528)cGg>cAg p.R176Q RXRG_ENST00000470566.1_5'UTR NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 176 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TTTATTATCCCGACACGTGTA 0.498000 4 103 0 0 0.009096 0 0 TC2N 123036 broad.mit.edu 37 14 92268712 92268712 + Missense_Mutation SNP G G T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr14:92268712G>T ENST00000435962.2 - 4 678 c.355C>A c.(355-357)Cag>Aag p.Q119K TC2N_ENST00000556018.1_Missense_Mutation_p.Q119K|TC2N_ENST00000360594.5_Missense_Mutation_p.Q119K|TC2N_ENST00000340892.5_Missense_Mutation_p.Q119K NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 119 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GGTCCGTGCTGGGATGAACTG 0.418000 14 62 0.000151284 0.000158321 0.001855 1 0 HMCN1 83872 broad.mit.edu 37 1 185951454 185951454 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:185951454C>T ENST00000271588.4 + 18 2952 c.2723C>T c.(2722-2724)aCt>aTt p.T908I HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.T908I NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 908 Ig-like C2-type 6. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGCAGCTTACTTTGCCCTGT 0.418000 36 108 0 0 0.003271 0 0 TFRC 7037 broad.mit.edu 37 3 195800987 195800987 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr3:195800987A>G ENST00000360110.4 - 4 417 c.248T>C c.(247-249)aTt>aCt p.I83T TFRC_ENST00000420415.1_Missense_Mutation_p.I2T|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000392396.3_Missense_Mutation_p.I83T|TFRC_ENST00000540528.1_3'UTR NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 83 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) CAAGTAGCCAATCATAAATCC 0.423000 T BCL6 NHL 11 45 0 0 0.008291 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086744 46086744 + Silent SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr21:46086744G>A ENST00000360770.3 - 1 100 c.60C>T c.(58-60)tgC>tgT p.C20C TSPEAR_ENST00000323084.4_Intron NM_181684.2 NP_859012.1 P59991 KR122_HUMAN keratin associated protein 12-2 20 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 AGGCTGGCTGGCAGGGGCTGG 0.667000 11 11 0 0 0.001855 0 0 PTPRS 5802 broad.mit.edu 37 19 5218496 5218496 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:5218496G>A ENST00000372412.4 - 25 4219 c.3986C>T c.(3985-3987)gCc>gTc p.A1329V PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1328 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGCGAGGTCGGCATTGTTCAG 0.527000 5 251 0 0 0.001168 0 0 MALAT1 0 broad.mit.edu 37 11 65265801 65265801 + RNA SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:65265801C>T ENST00000534336.1 + 0 569 AP000769.7_ENST00000602344.1_lincRNA NR_002819.2 TCCGTGCGGGCCGTGGGGGGC 0.617000 13 12 0 0 0.003163 0 0 SCN7A 6332 broad.mit.edu 37 2 167298214 167298214 + Missense_Mutation SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr2:167298214T>C ENST00000409855.1 - 14 1975 c.1849A>G c.(1849-1851)Atg>Gtg p.M617V NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 617 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AGAGACCACATCAAAATCTGG 0.383000 16 36 0 0 0.004007 0 0 SPCS2 9789 broad.mit.edu 37 11 74680630 74680630 + Missense_Mutation SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:74680630T>C ENST00000263672.6 + 4 419 c.380T>C c.(379-381)aTt>aCt p.I127T SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Intron NM_014752.2 NP_055567.2 Q15005 SPCS2_HUMAN signal peptidase complex subunit 2 homolog (S. cerevisiae) 127 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity breast(1) 1 ATGATGGGGATTCTGACCATT 0.378000 14 41 0 0 0.001855 0 0 TPTE 7179 broad.mit.edu 37 21 10908895 10908895 + Splice_Site SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr21:10908895T>C ENST00000298232.7 - 22 1763 c.1395_splice c.e22-1 p.N466_splice TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.N446_splice|TPTE_ENST00000361285.4_Splice_Site_p.N484_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 484 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) GTAGGAAGATTCTAAAAAGAA 0.254000 3 36 0 0 0.000602 0 0 THSD7B 80731 broad.mit.edu 37 2 138320879 138320879 + Missense_Mutation SNP T T A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr2:138320879T>A ENST00000409968.1 + 16 3405 c.3227T>A c.(3226-3228)cTg>cAg p.L1076Q THSD7B_ENST00000272643.3_Missense_Mutation_p.L1079Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1048Q thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AACAATGAGCTGAGGTCCCTG 0.443000 4 33 0 0 0.009096 0 0 POLR3A 11128 broad.mit.edu 37 10 79785906 79785906 + Silent SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr10:79785906G>A ENST00000372371.3 - 2 263 c.126C>T c.(124-126)taC>taT p.Y42Y NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 42 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TGTCCTGGCTGTACAGGTTCT 0.532000 3 53 0 0 0.004672 0 0 WIPI2 26100 broad.mit.edu 37 7 5270498 5270498 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr7:5270498G>A ENST00000288828.4 + 13 1517 c.1285G>A c.(1285-1287)Gcc>Acc p.A429T WIPI2_ENST00000484262.1_Missense_Mutation_p.A359T|WIPI2_ENST00000382384.2_Missense_Mutation_p.A400T|WIPI2_ENST00000404704.3_Missense_Mutation_p.A418T|WIPI2_ENST00000401525.3_Missense_Mutation_p.A411T NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 429 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TGTGGGTGGCGCCTGCCTGGA 0.612000 11 33 0 0 0.008291 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64137197 64137197 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:64137197C>T ENST00000528057.1 + 14 1696 c.1608C>T c.(1606-1608)ccC>ccT p.P536P RPS6KA4_ENST00000334205.4_Silent_p.P543P|RPS6KA4_ENST00000294261.4_Intron NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 543 Protein kinase 2. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 ACGACACGCCCGGGGCCCCGG 0.721000 3 19 0 0 0.004672 0 0 FILIP1 27145 broad.mit.edu 37 6 76124523 76124523 + Missense_Mutation SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:76124523T>C ENST00000393004.2 - 2 387 c.166A>G c.(166-168)Aaa>Gaa p.K56E FILIP1_ENST00000237172.7_Missense_Mutation_p.K56E Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 56 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AGGTGTCGTTTGACAGTTCCT 0.403000 104 138 0 0 0.014410 0 0 SLC22A2 6582 broad.mit.edu 37 6 160679569 160679569 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:160679569G>A ENST00000366952.1 - 3 1639 c.158C>T c.(157-159)aCg>aTg p.T53M SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.T74M O15244 S22A2_HUMAN solute carrier family 22 (organic cation transporter), member 2 74 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) GCCCGGCACCGTGTAGTTCAG 0.672000 8 44 0 0 0.003080 0 0 COL3A1 1281 broad.mit.edu 37 2 189867065 189867065 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr2:189867065C>T ENST00000304636.3 + 35 2603 c.2433C>T c.(2431-2433)ttC>ttT p.F811F COL3A1_ENST00000317840.5_Silent_p.F811F NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 811 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGCTGGTTTCCCTGGTGCTC 0.438000 4 39 0 0 0.000602 0 0 SERPINB7 8710 broad.mit.edu 37 18 61465877 61465877 + Nonsense_Mutation SNP C C A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr18:61465877C>A ENST00000398019.2 + 6 819 c.494C>A c.(493-495)tCa>tAa p.S165* SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.S165*|SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.S165*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.S148* NM_003784.3 NP_003775.1 O75635 SPB7_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 7 165 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) GGCATAAGCTCATCTGCTGTA 0.353000 6 86 8.12818e-05 8.60631e-05 0.001984 1 0 ZNF292 23036 broad.mit.edu 37 6 87966561 87966561 + Missense_Mutation SNP G G C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:87966561G>C ENST00000369577.3 + 8 3257 c.3214G>C c.(3214-3216)Gca>Cca p.A1072P ZNF292_ENST00000339907.4_Missense_Mutation_p.A1067P NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1072 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) AGAAAGTATTGCATTTGTTCC 0.373000 6 76 0 0 0.001984 0 0 UBN1 29855 broad.mit.edu 37 16 4927426 4927426 + Silent SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr16:4927426G>A ENST00000396658.4 + 16 4009 c.3306G>A c.(3304-3306)gcG>gcA p.A1102A UBN1_ENST00000262376.6_Silent_p.A1102A|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000545171.1_Intron NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 1102 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 CCCATGCAGCGCCTCTCCCAC 0.592000 10 214 0 0 0.001855 0 0 NTNG1 22854 broad.mit.edu 37 1 107973470 107973470 + Missense_Mutation SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:107973470T>C ENST00000370068.1 + 6 2032 c.1186T>C c.(1186-1188)Tgt>Cgt p.C396R NTNG1_ENST00000542803.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.C396R|NTNG1_ENST00000370073.2_Missense_Mutation_p.C396R|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron Q9Y2I2 NTNG1_HUMAN netrin G1 396 Laminin EGF-like 2. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AGGGCAGCACTGTGAGTTATG 0.443000 3 33 0 0 0.004672 0 0 TNRC6A 27327 broad.mit.edu 37 16 24802267 24802267 + Silent SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr16:24802267T>C ENST00000395799.3 + 6 2433 c.2304T>C c.(2302-2304)gaT>gaC p.D768D TNRC6A_ENST00000315183.7_Silent_p.D768D NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 768 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) CATGTATAGATAAGACTAGCC 0.498000 10 34 0 0 0.013537 0 0 A1BG 1 broad.mit.edu 37 19 58863737 58863737 + Silent SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:58863737A>G ENST00000263100.3 - 4 586 c.525T>C c.(523-525)caT>caC p.H175H A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 175 Ig-like V-type 2. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) TGCCAGGCTGATGGACTGGAA 0.622000 3 95 0 0 0.009096 0 0 TMEM150B 284417 broad.mit.edu 37 19 55828207 55828207 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:55828207A>G ENST00000326652.4 - 7 634 c.452T>C c.(451-453)aTt>aCt p.I151T TMEM150B_ENST00000438693.1_Missense_Mutation_p.I151T A6NC51 T150B_HUMAN transmembrane protein 150B 151 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 GAGGGGCCCAATCCAGGCAGC 0.627000 2 2 0 0 0.004672 0 0 NLRP14 338323 broad.mit.edu 37 11 7061017 7061017 + Splice_Site SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:7061017G>A ENST00000299481.4 + 3 707 c.e3+1 NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GCAGTGCTGGGTGAGTAGTTA 0.468000 5 114 0 0 0.000602 0 0 TMEM63B 55362 broad.mit.edu 37 6 44116117 44116117 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:44116117C>T ENST00000259746.9 + 13 1299 c.1116C>T c.(1114-1116)acC>acT p.T372T TMEM63B_ENST00000323267.6_Silent_p.T372T Q5T3F8 TM63B_HUMAN transmembrane protein 63B 372 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) AGACTATCACCGCCATGTGAG 0.592000 6 83 0 0 0.001984 0 0 RAB38 23682 broad.mit.edu 37 11 87883114 87883114 + Missense_Mutation SNP C C A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:87883114C>A ENST00000243662.6 - 2 294 c.212G>T c.(211-213)aGa>aTa p.R71I NM_022337.2 NP_071732.1 P57729 RAB38_HUMAN RAB38, member RAS oncogene family 71 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GTTTCCAAATCTTTCTTGACC 0.383000 19 275 5.35267e-07 5.94741e-07 0.007413 1 0 ANKRD11 29123 broad.mit.edu 37 16 89348536 89348536 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr16:89348536C>T ENST00000301030.4 - 9 4874 c.4414G>A c.(4414-4416)Gag>Aag p.E1472K ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1472K NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1472 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ctctccttctcgtctctccat 0.532000 10 31 0 0 0.006214 0 0 OR5L1 219437 broad.mit.edu 37 11 55579456 55579456 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:55579456A>G ENST00000333973.2 + 1 603 c.514A>G c.(514-516)Aat>Gat p.N172D NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTATAGATCTAATGTGATTAA 0.458000 5 219 0 0 0.001168 0 0 GPRC5A 0 broad.mit.edu 37 12 13061477 13061477 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr12:13061477C>T ENST00000014914.5 + 2 1184 c.294C>T c.(292-294)ttC>ttT p.F98F GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 98 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CCACACGCTTCTTCCTCTTTG 0.577000 4 191 0 0 0.009096 0 0 ALX1 8092 broad.mit.edu 37 12 85677644 85677644 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr12:85677644C>T ENST00000316824.3 + 2 676 c.521C>T c.(520-522)gCc>gTc p.A174V NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 174 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) CTCACTGAGGCCAGGGTCCAG 0.443000 18 82 0 0 0.004990 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869695 22869695 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr22:22869695G>A ENST00000302097.3 - 2 512 c.260C>T c.(259-261)tCg>tTg p.S87L NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TGCAGGCTGCGACACGTGAGC 0.468000 21 90 0 0 0.002780 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508692 37508692 + Missense_Mutation SNP C C A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr10:37508692C>A ENST00000374660.1 + 40 4340 c.4241C>A c.(4240-4242)aCa>aAa p.T1414K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T1295K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1295K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1351 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGCAAGATAACAATTGATATT 0.294000 9 24 2.17888e-05 2.39145e-05 0.006214 1 0 DNAH9 1770 broad.mit.edu 37 17 11827172 11827172 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:11827172A>G ENST00000262442.3 + 62 11859 c.11791A>G c.(11791-11793)Aac>Gac p.N3931D DNAH9_ENST00000396001.2_Missense_Mutation_p.N243D|DNAH9_ENST00000454412.2_Missense_Mutation_p.N3931D NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3931 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAACTTTCACAACGTGTCTTT 0.458000 11 53 0 0 0.008291 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 24 0 0 0.009096 0 0 PPARG 5468 broad.mit.edu 37 3 12458613 12458613 + Silent SNP C C T rs148844673 TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr3:12458613C>T ENST00000397026.2 + 8 1547 c.1164C>T c.(1162-1164)agC>agT p.S388S PPARG_ENST00000397015.2_Silent_p.S382S|PPARG_ENST00000397010.2_Silent_p.S382S|PPARG_ENST00000287820.6_Silent_p.S410S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397012.2_Silent_p.S382S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Silent_p.S382S P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 410 Ligand-binding. F -> L (in FPLD3). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TAGATGACAGCGACTTGGCAA 0.428000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 7 44 0 0 0.001984 0 0 ZDHHC4 55146 broad.mit.edu 37 7 6624735 6624735 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr7:6624735C>T ENST00000396706.2 + 7 1028 c.585C>T c.(583-585)ctC>ctT p.L195L ZDHHC4_ENST00000396707.2_Silent_p.L195L|ZDHHC4_ENST00000405731.3_Silent_p.L195L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Silent_p.L195L|ZDHHC4_ENST00000396709.1_Silent_p.L195L|ZDHHC4_ENST00000335965.6_Silent_p.L195L Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 195 integral to membrane acyltransferase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) GGTACTTCCTCATCTACGTCT 0.527000 3 42 0 0 0.004672 0 0 NEU2 4759 broad.mit.edu 37 2 233899633 233899633 + Missense_Mutation SNP C C A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr2:233899633C>A ENST00000233840.3 + 2 1009 c.1009C>A c.(1009-1011)Ctc>Atc p.L337I NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 337 exo-alpha-sialidase activity endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) CTACTCAGACCTCCAGAGCAT 0.607000 18 128 5.01169e-05 5.36967e-05 0.004990 1 0 RP1 6101 broad.mit.edu 37 8 55541622 55541622 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr8:55541622A>G ENST00000220676.1 + 4 5328 c.5180A>G c.(5179-5181)gAt>gGt p.D1727G NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1727 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAACAAAATGATGATAGCAGA 0.393000 6 72 0 0 0.001168 0 0 COBL 23242 broad.mit.edu 37 7 51287614 51287614 + Silent SNP T T G rs145775268 by1000genomes TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr7:51287614T>G ENST00000395542.2 - 2 253 c.69A>C c.(67-69)ccA>ccC p.P23P COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P|COBL_ENST00000265136.7_Silent_p.P23P O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 23 Poly-Pro. NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TTCCAGGAGGTGGGGGAGCAC 0.552000 4 36 0 0 0.000602 0 0 LINC00969 0 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 5 33 0 0 0.001168 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815253 179815253 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:179815253G>A ENST00000367612.3 - 6 1753 c.1366C>T c.(1366-1368)Cca>Tca p.P456S NM_001199260.1|NM_145034.4 NP_001186189.1|NP_659471.1 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 456 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 GGCTGGACTGGCAGTACCAGG 0.463000 3 71 0 0 0.004672 0 0 XKR9 389668 broad.mit.edu 37 8 71646325 71646325 + Missense_Mutation SNP A A G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr8:71646325A>G ENST00000408926.3 + 5 1322 c.788A>G c.(787-789)tAt>tGt p.Y263C XKR9_ENST00000520030.1_Missense_Mutation_p.Y263C|XKR9_ENST00000520273.1_Intron NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 263 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GAATTCTTATATAGGATTGTT 0.289000 20 56 0 0 0.007413 0 0 MUC16 94025 broad.mit.edu 37 19 9070400 9070400 + Silent SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:9070400G>A ENST00000397910.4 - 3 17249 c.17046C>T c.(17044-17046)ccC>ccT p.P5682P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5684 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5682P(2)|p.P1315P(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AACTCGTTACGGGCTCTGGGC 0.512000 18 27 0 0 0.006122 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17950915 17950915 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:17950915G>A ENST00000361221.3 + 13 1393 c.1234G>A c.(1234-1236)Gac>Aac p.D412N ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.D170N|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.D190N|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D412N NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 412 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) TGTGTACAGTGACTACGTGAA 0.557000 4 105 0 0 0.009096 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413214 139413214 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr9:139413214C>T ENST00000277541.6 - 6 1003 c.928G>A c.(928-930)Ggg>Agg p.G310R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 310 EGF-like 8; 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 p.G310R(2) 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) TGGCAGGTCCCGCCGTTCTGG 0.627000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 16 0 0 0.003080 0 0 REEP6 92840 broad.mit.edu 37 19 1495534 1495534 + Silent SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:1495534C>T ENST00000233596.3 + 3 380 c.276C>T c.(274-276)taC>taT p.Y92Y NM_138393.1 NP_612402.1 Q96HR9 REEP6_HUMAN receptor accessory protein 6 92 integral to membrane lung(1)|ovary(1) 2 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGTGGTGTACGCCCTGTTTG 0.622000 5 68 0 0 0.001168 0 0 AP000295.9 0 broad.mit.edu 37 21 34625023 34625023 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr21:34625023G>A ENST00000433395.2 + 3 320 c.320G>A c.(319-321)aGt>aAt p.S107N IFNAR2_ENST00000382264.3_Silent_p.K199K|IFNAR2_ENST00000382241.3_Silent_p.K199K|IFNAR2_ENST00000342101.3_Silent_p.K199K|IFNAR2_ENST00000413881.1_Silent_p.K127K|IFNAR2_ENST00000342136.4_Silent_p.K199K|IFNAR2_ENST00000404220.3_Silent_p.K199K TCATTGACAAGTTAATTCCAA 0.353000 29 31 0 0 0.009535 0 0 DNAH2 146754 broad.mit.edu 37 17 7662866 7662866 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:7662866C>T ENST00000572933.1 + 16 4035 c.2575C>T c.(2575-2577)Cca>Tca p.P859S DNAH2_ENST00000389173.2_Missense_Mutation_p.P859S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 859 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AAAGACCAGCCCAAACCCACT 0.502000 26 35 0 0 0.005443 0 0 ESR2 0 broad.mit.edu 37 14 64735545 64735545 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr14:64735545C>T ENST00000557772.1 - 3 619 c.620G>A c.(619-621)cGg>cAg p.R207Q ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.R207Q|ESR2_ENST00000353772.3_Missense_Mutation_p.R207Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R207Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R207Q|ESR2_ENST00000554572.1_Missense_Mutation_p.R207Q|ESR2_ENST00000555278.1_Missense_Mutation_p.R207Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R207Q|ESR2_ENST00000341099.4_Missense_Mutation_p.R207Q|ESR2_ENST00000267525.6_Missense_Mutation_p.R207Q NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 207 cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GTAACACTTCCGAAGTCGGCA 0.478000 12 90 0 0 0.001855 0 0 LINC00969 0 broad.mit.edu 37 3 195400799 195400799 + RNA SNP G G A rs7635172 by1000genomes TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr3:195400799G>A ENST00000445430.1 + 0 1395 CAAACTCGCTGTTGGACCTGG 0.597000 3 22 0 0 0.009096 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40758165 40758165 + Missense_Mutation SNP G G A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:40758165G>A ENST00000372759.3 + 10 1417 c.1252G>A c.(1252-1254)Gct>Act p.A418T NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 418 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TGAGTTTCAAGCTGATGCATT 0.388000 23 108 0 0 0.014323 0 0 C3 718 broad.mit.edu 37 19 6678249 6678249 + Silent SNP G G T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:6678249G>T ENST00000245907.6 - 40 4856 c.4764C>A c.(4762-4764)atC>atA p.I1588I C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1588 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTCTGCACTTGATGGGGCTGA 0.587000 7 29 2.7689e-08 3.11501e-08 0.001984 1 0 GRIN2A 0 broad.mit.edu 37 16 9928049 9928049 + Missense_Mutation SNP T T A TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr16:9928049T>A ENST00000396573.2 - 9 1999 c.1690A>T c.(1690-1692)Atg>Ttg p.M564L GRIN2A_ENST00000396575.2_Missense_Mutation_p.M564L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M407L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M564L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M564L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M564L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 564 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGAGCAGCATCACAAACATC 0.428000 4 128 0 0 0.009096 0 0 DMD 1756 broad.mit.edu 37 X 32380909 32380909 + Missense_Mutation SNP C C T TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chrX:32380909C>T ENST00000357033.4 - 37 5527 c.5321G>A c.(5320-5322)gGa>gAa p.G1774E DMD_ENST00000378677.2_Missense_Mutation_p.G1770E NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1774 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCTACCTTTCCAGTCTTAAT 0.483000 16 26 0 0 0.004007 0 0 LMX1A 4009 broad.mit.edu 37 1 165183011 165183011 + Missense_Mutation SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr1:165183011T>C ENST00000342310.3 - 5 918 c.536A>G c.(535-537)cAt>cGt p.H179R LMX1A_ENST00000294816.2_Missense_Mutation_p.H179R|LMX1A_ENST00000367893.4_Missense_Mutation_p.H179R NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 179 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CCCTGCCCCATGGGCTGACTT 0.498000 91 97 0 0 0.014410 0 0 OR9G1 390174 broad.mit.edu 37 11 56468711 56468711 + Missense_Mutation SNP T T G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:56468711T>G ENST00000312153.1 + 1 848 c.848T>G c.(847-849)aTg>aGg p.M283R NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 GTATTCCCCATGTTGAATCTC 0.388000 19 91 0 0 0.006122 0 0 MCF2 4168 broad.mit.edu 37 X 138678852 138678852 + Silent SNP T T C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chrX:138678852T>C ENST00000520602.1 - 22 2598 c.2313A>G c.(2311-2313)acA>acG p.T771T MCF2_ENST00000414978.1_Silent_p.T771T|MCF2_ENST00000370573.4_Silent_p.T711T|MCF2_ENST00000536274.1_Silent_p.T672T|MCF2_ENST00000370578.4_Silent_p.T856T|MCF2_ENST00000338585.6_Silent_p.T727T|MCF2_ENST00000370576.4_Silent_p.T711T|MCF2_ENST00000519895.1_Silent_p.T787T P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 711 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) CCTTCATTTTTGTAGCACCTT 0.398000 30 46 0 0 0.009535 0 0 TP53 7157 broad.mit.edu 37 17 7578554 7578554 + Splice_Site SNP A A C TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:7578554A>C ENST00000420246.2 - 5 508 c.375_splice c.e5-1 p.Y126_splice TP53_ENST00000445888.2_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000413465.2_Splice_Site_p.Y126_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 126 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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) GCAGGGGAGTACTGTAGGAAG 0.557000 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) 8 15 0 0 0.003080 0 0 OR9G4 283189 broad.mit.edu 37 11 56511045 56511045 + Silent SNP C C G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr11:56511045C>G ENST00000302957.3 - 1 242 c.243G>C c.(241-243)ctG>ctC p.L81L NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 81 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CCAAAAAAGACAGATTGCCAA 0.428000 12 76 0 0 0.001855 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933968 49933968 + Missense_Mutation SNP C C G TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr19:49933968C>G ENST00000221485.3 - 12 1662 c.1491G>C c.(1489-1491)tgG>tgC p.W497C SLC17A7_ENST00000600601.1_Missense_Mutation_p.W430C|SLC17A7_ENST00000543531.1_Missense_Mutation_p.W485C NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 497 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CAGGCTCTGCCCACGGCTGCT 0.587000 4 52 0 0 0.009096 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147128 55147128 + Frame_Shift_Del DEL G G - TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr6:55147128delG ENST00000370862.3 + 7 1547 c.1211delG c.(1210-1212)cgfs p.R404fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 404 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ACAGAGAGCCGGAAGTCCTTG 0.483 12 25 --- --- --- --- ASCL4 121549 broad.mit.edu 37 12 108169502 108169502 + Frame_Shift_Del DEL G G - TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr12:108169502delG ENST00000342331.4 + 1 1341 c.510delG c.(508-510)gafs p.E170fs NM_203436.2 NP_982260.2 Q6XD76 ASCL4_HUMAN achaete-scute family bHLH transcription factor 4 169 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 13 AGCCCGAGGAGGGGGGCAGCT 0.736 4 7 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577081 7577099 + Frame_Shift_Del DEL TCCTCTGTGCGCCGGTCTC TCCTCTGTGCGCCGGTCTC - rs28934574 byFrequency TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC ENST00000420246.2 - 8 971_989 c.839_857delGAGACCGGCGCACAGAGGA c.(838-858)aafs p.RDRRTEE280fs TP53_ENST00000359597.4_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RDRRTEE280fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(401)|p.E285K(111)|p.R280T(65)|p.E286K(58)|p.R280K(49)|p.R282G(29)|p.D281E(28)|p.R283P(27)|p.R282Q(27)|p.D281N(25)|p.E285*(24)|p.E286*(22)|p.D281H(19)|p.E286G(18)|p.R283C(17)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.E285V(15)|p.R280S(15)|p.R283H(13)|p.R282R(10)|p.D281G(10)|p.E286V(9)|p.T284P(9)|p.0?(8)|p.E285G(5)|p.E286Q(5)|p.D281V(5)|p.D281D(5)|p.E285Q(4)|p.R283R(4)|p.R283L(4)|p.R282fs*24(4)|p.R283fs*62(4)|p.E285E(3)|p.T284T(3)|p.R282L(3)|p.R282H(3)|p.R280R(3)|p.T284A(3)|p.R283G(2)|p.E285A(2)|p.D281fs*63(2)|p.E286fs*59(2)|p.D281_R282>EW(2)|p.R283fs*23(2)|p.D281A(2)|p.T284fs*21(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283S(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_N288delEEEN(1)|p.R283del(1)|p.R283fs*22(1)|p.V272_K292del21(1)|p.D281R(1)|p.E285fs*60(1)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.T284_G293del10(1)|p.D281fs*24(1)|p.E285fs*13(1)|p.T284I(1)|p.L265_K305del41(1)|p.R283_T284>T(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.E285_L289delEEENL(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.T284fs*57(1)|p.D281_R282delDR(1)|p.E285fs*20(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) GAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA 0.553 111 """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) 15 48 --- --- --- --- RP11-271K11.5 0 broad.mit.edu 37 17 29369492 29369493 + RNA DEL CA CA - TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chr17:29369492_29369493delCA ENST00000583112.1 - 0 628 p.?(1) cacaggcaagcacacacacaca 0.510 2 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939864 76939864 + Frame_Shift_Del DEL T T - TCGA-DU-6399-01A-12D-1705-08 TCGA-DU-6399-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d386817-502d-4f0b-86a6-be6c07742c3a b1f23f7a-9ecf-4f17-8692-dff4f56e41b9 g.chrX:76939864delT ENST00000373344.5 - 9 1098 c.884delA c.(883-885)agfs p.K297fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K259fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 297 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) TATCTTCTTCTTATTTTGCTG 0.348 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 85 11 --- --- --- ---