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 DPY19L3 147991 broad.mit.edu 37 19 32923652 32923652 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:32923652G>C ENST00000342179.5 + 4 483 c.268G>C c.(268-270)Gag>Cag p.E90Q DPY19L3_ENST00000392250.2_Missense_Mutation_p.E90Q|DPY19L3_ENST00000586987.1_Missense_Mutation_p.E90Q NM_207325.2 NP_997208.2 Q6ZPD9 D19L3_HUMAN dpy-19-like 3 (C. elegans) 90 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1) 32 Esophageal squamous(110;0.162) ATTCAGAACAGAGTGTGGCCT 0.408000 6 86 0 0 0.248553 0 0 PDCD11 22984 broad.mit.edu 37 10 105176373 105176373 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:105176373C>T ENST00000369797.3 + 13 1738 c.1644C>T c.(1642-1644)ttC>ttT p.F548F NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 548 S1 motif 6. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CACATGGCTTCATCATCAGGG 0.488000 OREG0020494 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 131 0 0 0.335167 0 0 FCRLB 127943 broad.mit.edu 37 1 161697058 161697058 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:161697058C>G ENST00000367948.2 + 8 1102 c.887C>G c.(886-888)tCc>tGc p.S296C FCRLB_ENST00000392158.1_Missense_Mutation_p.S296C|FCRLB_ENST00000367944.3_Silent_p.L254L|FCRLB_ENST00000367945.1_Missense_Mutation_p.P241A|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000336830.5_Silent_p.L261L|FCRLB_ENST00000367946.3_Missense_Mutation_p.P248A Q6BAA4 FCRLB_HUMAN Fc receptor-like B 296 endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GACCCGGCCTCCACCACCGCC 0.667000 3 47 0 0 0.150653 0 0 C11orf54 28970 broad.mit.edu 37 11 93488478 93488478 + Missense_Mutation SNP T T G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:93488478T>G ENST00000528288.1 + 6 668 c.433T>G c.(433-435)Tac>Gac p.Y145D C11orf54_ENST00000528099.1_Missense_Mutation_p.Y145D|C11orf54_ENST00000354421.3_Missense_Mutation_p.Y145D|C11orf54_ENST00000540113.1_Missense_Mutation_p.Y126D|C11orf54_ENST00000331239.4_Missense_Mutation_p.Y145D NM_014039.2 NP_054758.2 Q9H0W9 CK054_HUMAN chromosome 11 open reading frame 54 145 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ACTGGAGAAATACAGTGAGAA 0.423000 4 105 0 0 0.150653 0 0 ZNF676 163223 broad.mit.edu 37 19 22363822 22363822 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:22363822C>T ENST00000397121.2 - 3 1014 c.697G>A c.(697-699)Gct>Act p.A233T NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) CGATTAAAAGCTTTGCCACAT 0.363000 11 179 0 0 0.387290 0 0 LINC00669 647946 broad.mit.edu 37 18 37202131 37202131 + RNA SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr18:37202131G>A ENST00000591629.1 - 0 282 NR_024391.1 gacatcacaagactctattga 0.393000 4 75 0 0 0.184627 0 0 FXR1 8087 broad.mit.edu 37 3 180666565 180666565 + Missense_Mutation SNP T T A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr3:180666565T>A ENST00000357559.4 + 6 860 c.476T>A c.(475-477)aTt>aAt p.I159N FXR1_ENST00000491062.1_Missense_Mutation_p.I110N|FXR1_ENST00000305586.7_Missense_Mutation_p.I74N|FXR1_ENST00000468861.1_Missense_Mutation_p.I74N|FXR1_ENST00000445140.2_Missense_Mutation_p.I159N|FXR1_ENST00000480918.1_Missense_Mutation_p.I146N NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 159 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) GCATGCAGAATTTTTTACCAT 0.303000 6 169 0 0 0.278610 0 0 MCM9 254394 broad.mit.edu 37 6 119238864 119238864 + Missense_Mutation SNP G G A rs142688993 byFrequency TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:119238864G>A ENST00000316316.6 - 5 1052 c.766C>T c.(766-768)Cgc>Tgc p.R256C MCM9_ENST00000316068.3_Missense_Mutation_p.R256C NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 256 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) ACTTCACAGCGCACATCTTGC 0.453000 4 189 0 0 0.217242 0 0 UGT1A8 54576 broad.mit.edu 37 2 234527158 234527158 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:234527158A>G ENST00000373450.4 + 1 868 c.805A>G c.(805-807)Atg>Gtg p.M269V NM_019076.4 NP_061949.3 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) GATGCCCAATATGATCTTCAT 0.433000 33 408 0 0 0.779181 0 0 GPATCH3 63906 broad.mit.edu 37 1 27226896 27226896 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:27226896A>G ENST00000361720.5 - 1 61 c.38T>C c.(37-39)gTt>gCt p.V13A NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 13 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) TACCAGGTAAACTGTCGCCTC 0.592000 3 68 0 0 0.150653 0 0 HMGB1 3146 broad.mit.edu 37 13 31037728 31037728 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr13:31037728C>T ENST00000405805.1 - 2 1030 c.90G>A c.(88-90)aaG>aaA p.K30K HMGB1_ENST00000399489.1_Silent_p.K30K|HMGB1_ENST00000339872.4_Silent_p.K30K|HMGB1_ENST00000326004.4_Silent_p.K30K|HMGB1_ENST00000341423.5_Silent_p.K30K|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000399494.1_Silent_p.K30K P09429 HMGB1_HUMAN high mobility group box 1 30 base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CATCTGGGTGCTTCTTCTTAT 0.408000 6 196 0 0 0.217242 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432666 117432666 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:117432666A>G ENST00000160373.3 - 4 675 c.584T>C c.(583-585)gTa>gCa p.V195A CTTNBP2_ENST00000487820.1_5'UTR NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 195 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TTTGGCCATTACGTCTTCGAG 0.483000 3 159 0 0 0.115264 0 0 SPZ1 84654 broad.mit.edu 37 5 79616171 79616171 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:79616171C>T ENST00000296739.4 + 1 382 c.137C>T c.(136-138)tCc>tTc p.S46F NM_032567.3 NP_115956.3 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2) 26 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TCCCCTTCCTCCTGGGGCTCT 0.403000 7 225 0 0 0.278610 0 0 SULT6B1 391365 broad.mit.edu 37 2 37410658 37410658 + Splice_Site SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:37410658C>G ENST00000535679.1 - 3 312 c.e3-1 SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000260637.3_Splice_Site|SULT6B1_ENST00000407963.1_Splice_Site Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) CTTTCATTCTCTTAAAAATAT 0.408000 3 105 0 0 0.115264 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740003 140740003 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:140740003C>G ENST00000522605.1 + 1 301 c.301C>G c.(301-303)Ctg>Gtg p.L101V PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGCAGCCTCTGTGTGTTCT 0.418000 9 140 0 0 0.335167 0 0 RAET1G 353091 broad.mit.edu 37 6 150240360 150240360 + Silent SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:150240360G>C ENST00000367360.2 - 3 517 c.450C>G c.(448-450)ctC>ctG p.L150L RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.1_ENST00000446954.1_RNA|RAET1G_ENST00000479265.1_Silent_p.L150L|RP11-244K5.8_ENST00000606915.1_RNA NM_001001788.2 NP_001001788.2 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G 150 MHC class I alpha-2 like. antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1) 13 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CTGAGTCAAAGAGGAGGAAGA 0.493000 18 183 0 0 0.520397 0 0 USP9X 8239 broad.mit.edu 37 X 41000632 41000632 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chrX:41000632A>G ENST00000324545.7 + 9 1742 c.1109A>G c.(1108-1110)cAt>cGt p.H370R USP9X_ENST00000378308.2_Missense_Mutation_p.H370R NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 370 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 TACTATACTCATCGACATGGT 0.353000 7 33 0 0 0.248553 0 0 CACNG8 59283 broad.mit.edu 37 19 54466602 54466602 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:54466602G>A ENST00000270458.2 + 1 309 c.206G>A c.(205-207)gGg>gAg p.G69E NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 69 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CCCCACCGCGGGGGCGGCGGC 0.716000 3 14 0 0 0.150653 0 0 TBC1D1 23216 broad.mit.edu 37 4 38138875 38138875 + Silent SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:38138875G>A ENST00000261439.4 + 20 3781 c.3426G>A c.(3424-3426)acG>acA p.T1142T TBC1D1_ENST00000508802.1_Silent_p.T1133T|TBC1D1_ENST00000407365.1_3'UTR NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1142 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TGCTGCAGACGGTGGAGGAGC 0.642000 7 60 0 0 0.307466 0 0 PLCB2 5330 broad.mit.edu 37 15 40591135 40591135 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr15:40591135C>T ENST00000260402.3 - 9 963 c.714G>A c.(712-714)aaG>aaA p.K238K PLCB2_ENST00000456256.2_Silent_p.K238K|PLCB2_ENST00000557821.1_Silent_p.K238K NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 238 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) TCAGGTGCTCCTTCGTCATGT 0.577000 9 164 0 0 0.335167 0 0 MAGI2 9863 broad.mit.edu 37 7 77885568 77885568 + Missense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:77885568C>A ENST00000354212.4 - 10 1992 c.1739G>T c.(1738-1740)gGc>gTc p.G580V MAGI2_ENST00000535697.1_Missense_Mutation_p.G417V|MAGI2_ENST00000536571.1_Missense_Mutation_p.G412V|MAGI2_ENST00000419488.1_Missense_Mutation_p.G580V|MAGI2_ENST00000522391.1_Missense_Mutation_p.G580V NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 580 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGATACGTGCCGTCTAGCTG 0.507000 4 60 0.000602214 0.00072117 0.184627 1 0 ACTN4 81 broad.mit.edu 37 19 39200969 39200969 + Nonsense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:39200969C>G ENST00000252699.2 + 8 882 c.806C>G c.(805-807)tCa>tGa p.S269* ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 269 Actin-binding.|CH 2. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CATGCCTTTTCAGGAGCGCAG 0.607000 4 218 0 0 0.150653 0 0 SAMD9L 219285 broad.mit.edu 37 7 92761232 92761232 + Nonsense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:92761232G>T ENST00000318238.4 - 5 5269 c.4053C>A c.(4051-4053)taC>taA p.Y1351* SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.Y1351*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.Y1351* NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1351 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TAGCATCTTTGTAGTTTGGAT 0.388000 40 232 5.59293e-11 7.13834e-11 0.827153 1 0 RNASE11 122651 broad.mit.edu 37 14 21052160 21052160 + Nonsense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr14:21052160G>T ENST00000335950.4 - 3 936 c.474C>A c.(472-474)tgC>tgA p.C158* RNASE11_ENST00000398009.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000555841.1_Nonsense_Mutation_p.C158*|RNASE11_ENST00000398008.2_Nonsense_Mutation_p.C158*|RNASE11_ENST00000553849.1_Nonsense_Mutation_p.C158*|RNASE11_ENST00000432835.2_Nonsense_Mutation_p.C158* NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 158 extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) TAGTGAACTGGCACACTGTAT 0.488000 9 85 0.00448238 0.00523845 0.307466 1 0 CNTNAP3B 728577 broad.mit.edu 37 9 43861012 43861012 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr9:43861012C>T ENST00000377564.3 + 13 2279 c.1886C>T c.(1885-1887)gCg>gTg p.A629V NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 629 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 GCAGACTCCGCGTGGACGGTG 0.647000 3 7 0 0 0.115264 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784546 140784546 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:140784546G>A ENST00000573521.1 + 1 2027 c.2027G>A c.(2026-2028)gGc>gAc p.G676D PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGACCTGGGCAGTCTTCAG 0.592000 9 136 0 0 0.361761 0 0 HTR1D 3352 broad.mit.edu 37 1 23520602 23520602 + Silent SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:23520602G>C ENST00000374619.1 - 1 620 c.111C>G c.(109-111)ctC>ctG p.L37L HTR1D_ENST00000314113.3_Silent_p.L37L NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 37 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GGGAGATCTTGAGCGCCTGGA 0.567000 9 126 0 0 0.335167 0 0 ANK2 287 broad.mit.edu 37 4 114279897 114279897 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:114279897C>G ENST00000357077.4 + 38 10176 c.10123C>G c.(10123-10125)Cag>Gag p.Q3375E ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.Q3342E NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3342 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGTGGCTCCTCAGGGACAGGA 0.468000 9 103 0 0 0.335167 0 0 JAK1 3716 broad.mit.edu 37 1 65307005 65307005 + Missense_Mutation SNP C C G rs67572613 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:65307005C>G ENST00000342505.4 - 19 2820 c.2572G>C c.(2572-2574)Gaa>Caa p.E858Q NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 858 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGTTTTTTTTCTGAAACAATA 0.473000 Mis ALL 16 143 0 0 0.520397 0 0 SHROOM3 57619 broad.mit.edu 37 4 77692006 77692006 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:77692006G>C ENST00000296043.6 + 10 6530 c.5577G>C c.(5575-5577)gaG>gaC p.E1859D RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1859 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) CCCGTGTTGAGAATGTCCTTA 0.502000 6 157 0 0 0.217242 0 0 CMTR2 55783 broad.mit.edu 37 16 71319121 71319121 + Missense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr16:71319121C>A ENST00000338099.5 - 3 1039 c.703G>T c.(703-705)Gat>Tat p.D235Y FTSJD1_ENST00000434935.2_Missense_Mutation_p.D235Y Q8IYT2 FTSJ1_HUMAN 235 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 AAACTCCCATCTGCAGTGACC 0.428000 19 75 9.7654e-05 0.000119904 0.557998 1 0 OR4D2 124538 broad.mit.edu 37 17 56247483 56247483 + Missense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr17:56247483C>A ENST00000545221.1 + 1 467 c.467C>A c.(466-468)tCt>tAt p.S156Y NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 TTTGTCCACTCTATTGTCCAG 0.567000 12 120 3.07112e-06 3.86881e-06 0.387290 1 0 DHX30 22907 broad.mit.edu 37 3 47882464 47882464 + Missense_Mutation SNP G G A rs139889547 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr3:47882464G>A ENST00000446256.2 + 8 919 c.347G>A c.(346-348)cGt>cAt p.R116H DHX30_ENST00000457607.1_Missense_Mutation_p.R183H|DHX30_ENST00000445061.1_Missense_Mutation_p.R155H|DHX30_ENST00000348968.4_Missense_Mutation_p.R127H NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 155 DRBM. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGCTGGTGGCGTCCGGAACCC 0.617000 7 53 0 0 0.335167 0 0 PHF3 23469 broad.mit.edu 37 6 64421505 64421505 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:64421505C>G ENST00000262043.3 + 16 4361 c.4021C>G c.(4021-4023)Cta>Gta p.L1341V PHF3_ENST00000393387.1_Missense_Mutation_p.L1341V Q92576 PHF3_HUMAN PHD finger protein 3 1341 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TAGACCTAATCTATTGTTGGG 0.373000 13 197 0 0 0.435327 0 0 GNE 10020 broad.mit.edu 37 9 36227321 36227321 + Missense_Mutation SNP T T C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr9:36227321T>C ENST00000396594.3 - 7 1409 c.1298A>G c.(1297-1299)cAt>cGt p.H433R GNE_ENST00000447283.2_Missense_Mutation_p.H402R|GNE_ENST00000543356.2_Missense_Mutation_p.H397R|GNE_ENST00000539208.1_Missense_Mutation_p.H292R|GNE_ENST00000539815.1_Missense_Mutation_p.H402R|GNE_ENST00000377902.5_Missense_Mutation_p.H402R NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 402 N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) TTCAAGAATATGGTCAATATC 0.408000 7 102 0 0 0.278610 0 0 OR8D4 338662 broad.mit.edu 37 11 123777472 123777472 + Missense_Mutation SNP T T A rs139359205 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:123777472T>A ENST00000321355.2 + 1 364 c.334T>A c.(334-336)Tgc>Agc p.C112S NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TATTTCTGAATGCTACATGCT 0.478000 11 251 0 0 0.608945 0 0 SLFN12L 100506736 broad.mit.edu 37 17 33806816 33806816 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr17:33806816G>A ENST00000260908.7 - 2 530 c.413C>T c.(412-414)gCc>gTc p.A138V SLFN12L_ENST00000449046.1_Missense_Mutation_p.A169V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A167V NM_001195790.1 NP_001182719.1 Q6IEE8 SN12L_HUMAN schlafen family member 12-like 170 integral to membrane ATP binding breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1) 16 GCTCAACGTGGCAATCTGCGG 0.433000 3 35 0 0 0.115264 0 0 LILRB1 10859 broad.mit.edu 37 19 55085362 55085362 + Missense_Mutation SNP C C T rs145704089 byFrequency TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:55085362C>T ENST00000396321.2 + 1 17 c.17C>T c.(16-18)aCg>aTg p.T6M LILRA2_ENST00000391737.1_Missense_Mutation_p.T6M|LILRA2_ENST00000251376.3_Missense_Mutation_p.T6M|LILRA2_ENST00000391738.3_Missense_Mutation_p.T6M|LILRB1_ENST00000448689.1_Missense_Mutation_p.T6M|LILRB1_ENST00000418536.2_Missense_Mutation_p.T6M|LILRA2_ENST00000251377.3_Missense_Mutation_p.T6M|LILRA2_ENST00000495786.1_Intron Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 6 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCATCCTCACGGTCCTGATC 0.602000 HNSCC(37;0.09) 13 159 0 0 0.520397 0 0 KIFC1 3833 broad.mit.edu 37 6 33372879 33372879 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:33372879C>T ENST00000428849.2 + 7 1457 c.1007C>T c.(1006-1008)tCt>tTt p.S336F NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 336 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 CTGTTTCCCTCTGGCCCTGGT 0.682000 5 187 0 0 0.217242 0 0 HMGB1 3146 broad.mit.edu 37 13 31037677 31037677 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr13:31037677C>G ENST00000405805.1 - 2 1081 c.141G>C c.(139-141)gaG>gaC p.E47D HMGB1_ENST00000399489.1_Missense_Mutation_p.E47D|HMGB1_ENST00000339872.4_Missense_Mutation_p.E47D|HMGB1_ENST00000326004.4_Missense_Mutation_p.E47D|HMGB1_ENST00000341423.5_Missense_Mutation_p.E47D|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000399494.1_Missense_Mutation_p.E47D P09429 HMGB1_HUMAN high mobility group box 1 47 base-excision repair, DNA ligation|dendritic cell chemotaxis|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm chemoattractant activity|cytokine activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1) 8 Lung SC(185;0.0257) all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232) CCTTCCACCTCTCTGAGCACT 0.408000 5 243 0 0 0.184627 0 0 ANK2 287 broad.mit.edu 37 4 114279449 114279449 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:114279449C>T ENST00000357077.4 + 38 9728 c.9675C>T c.(9673-9675)ctC>ctT p.L3225L ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.L3192L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3192 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCAAGGACCTCCCCACCGTGC 0.478000 10 106 0 0 0.361761 0 0 ZFP30 22835 broad.mit.edu 37 19 38126325 38126325 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr19:38126325G>C ENST00000351218.2 - 6 1674 c.1117C>G c.(1117-1119)Cag>Gag p.Q373E ZFP30_ENST00000392144.1_Missense_Mutation_p.Q373E|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.Q373E NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTATTCTCTGATGGAGAGTT 0.408000 4 137 0 0 0.150653 0 0 ESYT1 23344 broad.mit.edu 37 12 56527377 56527377 + Silent SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr12:56527377C>T ENST00000394048.5 + 12 1563 c.1299C>T c.(1297-1299)ttC>ttT p.F433F ESYT1_ENST00000541590.1_Silent_p.F433F|ESYT1_ENST00000267113.4_Silent_p.F433F NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 433 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 TCTAGTGGTTCCCTCTACAAG 0.458000 6 101 0 0 0.335167 0 0 EGF 1950 broad.mit.edu 37 4 110834553 110834553 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:110834553C>T ENST00000265171.5 + 1 507 c.62C>T c.(61-63)tCa>tTa p.S21L EGF_ENST00000509793.1_Missense_Mutation_p.S21L|EGF_ENST00000503392.1_Missense_Mutation_p.S21L NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 21 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTTAGTCTCTCAGCACCGCAG 0.428000 4 75 0 0 0.184627 0 0 CPLX1 10815 broad.mit.edu 37 4 786392 786392 + Silent SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr4:786392G>A ENST00000304062.6 - 3 267 c.36C>T c.(34-36)gcC>gcT p.A12A CPLX1_ENST00000505203.1_Silent_p.A12A NM_006651.3 NP_006642.1 O14810 CPLX1_HUMAN complexin 1 12 glutamate secretion cytosol kidney(1)|lung(2) 3 Colorectal(103;0.187) TGTCCTTGGTGGCCCCTGGTA 0.662000 11 93 0 0 0.387290 0 0 CACNA1F 778 broad.mit.edu 37 X 49065126 49065126 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chrX:49065126G>A ENST00000376265.2 - 43 5066 c.5005C>T c.(5005-5007)Ccc>Tcc p.P1669S CACNA1F_ENST00000376251.1_Missense_Mutation_p.P1604S|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P1658S NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1669 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CGAGCTGAGGGCTGGGAGACC 0.567000 3 55 0 0 0.184627 0 0 TYW1B 441250 broad.mit.edu 37 7 72040531 72040531 + RNA SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:72040531G>T ENST00000438125.1 - 0 1399 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity GATGTCTTGTGTCCTTGGGAT 0.408000 5 101 0.00116845 0.00138219 0.217242 1 0 DNAH3 55567 broad.mit.edu 37 16 21136514 21136514 + Silent SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr16:21136514G>A ENST00000261383.3 - 9 1385 c.1386C>T c.(1384-1386)tcC>tcT p.S462S DNAH3_ENST00000415178.1_Silent_p.S462S|CTC-508F8.1_ENST00000575612.1_RNA NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 462 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TCATGAAAAGGGAAACGAGGT 0.453000 8 113 0 0 0.335167 0 0 NISCH 11188 broad.mit.edu 37 3 52505975 52505975 + Missense_Mutation SNP T T G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr3:52505975T>G ENST00000345716.4 + 5 689 c.555T>G c.(553-555)tgT>tgG p.C185W NISCH_ENST00000479054.1_Missense_Mutation_p.C185W|NISCH_ENST00000488380.1_Missense_Mutation_p.C185W|NISCH_ENST00000420808.2_Missense_Mutation_p.C185W NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 185 Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) ACTTCACCTGTCGCCTTAAGT 0.617000 OREG0015615 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 64 0 0 0.217242 0 0 IMMT 10989 broad.mit.edu 37 2 86374882 86374882 + Silent SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:86374882A>G ENST00000410111.3 - 13 1863 c.1476T>C c.(1474-1476)gaT>gaC p.D492D IMMT_ENST00000449247.2_Silent_p.D481D|IMMT_ENST00000409051.2_Silent_p.D445D|IMMT_ENST00000254636.5_Silent_p.D393D|IMMT_ENST00000442664.2_Silent_p.D491D NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 492 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTCGCAAGTGATCAGTGTGGG 0.478000 8 128 0 0 0.307466 0 0 ACTG1 71 broad.mit.edu 37 17 79478103 79478103 + Silent SNP G G T rs140289614 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr17:79478103G>T ENST00000575842.1 - 4 1260 c.834C>A c.(832-834)acC>acA p.T278T AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000331925.2_Silent_p.T278T|ACTG1_ENST00000575087.1_Silent_p.T278T|ACTG1_ENST00000573283.1_Silent_p.T278T P63261 ACTG_HUMAN actin, gamma 1 278 T -> I (in DFNA20; dbSNP:rs28999112). adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) TGGAGTTGAAGGTGGTCTCGT 0.552000 9 150 0.0135373 0.0154484 0.411799 1 0 NEURL2 140825 broad.mit.edu 37 20 44519216 44519216 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr20:44519216G>C ENST00000372518.4 - 1 710 c.415C>G c.(415-417)Cca>Gca p.P139A NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 139 NHR. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) AGGAGGGTTGGAGGTCGGCTG 0.697000 6 54 0 0 0.217242 0 0 TRIM43 129868 broad.mit.edu 37 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:96260870G>A ENST00000272395.2 + 3 620 c.484G>A c.(484-486)Gga>Aga p.G162R NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 162 intracellular zinc ion binding p.G162R(2) breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 ATATGAGGAGGGAAGAACAGC 0.398000 3 45 0 0 0.115264 0 0 IGSF22 283284 broad.mit.edu 37 11 18743146 18743146 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:18743146C>T ENST00000513874.1 - 4 453 c.314G>A c.(313-315)gGc>gAc p.G105D RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 105 Ig-like 1. p.G105D(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GATGGGGATGCCGCTCTCCCT 0.592000 OREG0020822 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 201 0 0 0.184627 0 0 TTN 7273 broad.mit.edu 37 2 179436108 179436108 + Silent SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:179436108G>C ENST00000589042.1 - 326 74975 c.74751C>G c.(74749-74751)gtC>gtG p.V24917V TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.V15977V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.V16044V|TTN_ENST00000342992.6_Silent_p.V22349V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.V15852V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V23276V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23276 Fibronectin type-III 81. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGACAGTGTGACAACTGGAG 0.468000 6 157 0 0 0.217242 0 0 PAPSS2 9060 broad.mit.edu 37 10 89472868 89472868 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:89472868C>T ENST00000361175.4 + 3 551 c.182C>T c.(181-183)gCc>gTc p.A61V PAPSS2_ENST00000456849.1_Missense_Mutation_p.A61V|PAPSS2_ENST00000482258.1_3'UTR|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A65V NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 61 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) ATAAGTTTTGCCCTGGAGGAG 0.473000 5 281 0 0 0.248553 0 0 RICTOR 253260 broad.mit.edu 37 5 38944564 38944564 + Nonsense_Mutation SNP C C A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:38944564C>A ENST00000357387.3 - 36 4927 c.4897G>T c.(4897-4899)Gag>Tag p.E1633* RICTOR_ENST00000296782.5_Nonsense_Mutation_p.E1657* NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1633 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding p.E1633Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) AGCCCAGTCTCATGACATTTA 0.323000 9 214 2.17888e-05 2.70963e-05 0.335167 1 0 SASH1 23328 broad.mit.edu 37 6 148855896 148855896 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:148855896C>T ENST00000367467.3 + 16 2429 c.1954C>T c.(1954-1956)Ccc>Tcc p.P652S NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 652 SAM 1. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GGAGCACATGCCCACTTTCCT 0.502000 4 132 0 0 0.184627 0 0 VIL1 7429 broad.mit.edu 37 2 219313973 219313973 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr2:219313973C>G ENST00000248444.5 + 20 2486 c.2398C>G c.(2398-2400)Cag>Gag p.Q800E VIL1_ENST00000392114.2_Missense_Mutation_p.Q489E NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 800 HP.|Headpiece. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATTTCACTCAGGCCTTTGG 0.493000 6 353 0 0 0.248553 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964688 88964688 + Nonsense_Mutation SNP A A T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:88964688A>T ENST00000333190.4 + 4 3001 c.2392A>T c.(2392-2394)Aaa>Taa p.K798* NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 798 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAAATACTCAAAACGTAGATA 0.348000 HNSCC(36;0.09) 9 72 0 0 0.335167 0 0 PITX1 5307 broad.mit.edu 37 5 134364577 134364577 + Missense_Mutation SNP G G C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:134364577G>C ENST00000265340.7 - 3 1253 c.837C>G c.(835-837)aaC>aaG p.N279K PITX1_ENST00000506438.1_Missense_Mutation_p.N279K NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 279 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CTAGGCTCGAGTTGCACGTGT 0.677000 3 27 0 0 0.115264 0 0 PCLO 27445 broad.mit.edu 37 7 82785433 82785433 + Missense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:82785433G>T ENST00000423517.2 - 2 861 c.524C>A c.(523-525)cCt>cAt p.P175H PCLO_ENST00000333891.8_Missense_Mutation_p.P175H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 175 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAAATCAAAAGGGTTGAATTT 0.398000 5 70 0.184627 0.205849 0.184627 1 0 KMT2A 4297 broad.mit.edu 37 11 118390377 118390377 + Missense_Mutation SNP G G T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr11:118390377G>T ENST00000534358.1 + 32 11214 c.11191G>T c.(11191-11193)Gtg>Ttg p.V3731L KMT2A_ENST00000389506.5_Missense_Mutation_p.V3728L|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Missense_Mutation_p.V3690L|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000528578.1_RNA NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A TGATGCAGTTGTGTTCCTCAT 0.502000 16 151 0.000566183 0.000686497 0.520397 1 0 GLUL 2752 broad.mit.edu 37 1 182355001 182355001 + Missense_Mutation SNP C C T TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr1:182355001C>T ENST00000311223.5 - 6 1393 c.497G>A c.(496-498)gGa>gAa p.G166E GLUL_ENST00000417584.2_Missense_Mutation_p.G166E|GLUL_ENST00000339526.4_Missense_Mutation_p.G166E|GLUL_ENST00000331872.6_Missense_Mutation_p.G166E|GLUL_ENST00000491322.1_5'UTR NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 166 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) TCTGTCTGCTCCCACACCACA 0.512000 14 176 0 0 0.557998 0 0 ESR1 2099 broad.mit.edu 37 6 152163869 152163869 + Missense_Mutation SNP A A G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr6:152163869A>G ENST00000440973.1 + 4 960 c.590A>G c.(589-591)tAt>tGt p.Y197C ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.Y197C|ESR1_ENST00000206249.3_Missense_Mutation_p.Y197C|ESR1_ENST00000338799.5_Missense_Mutation_p.Y197C|ESR1_ENST00000443427.1_Missense_Mutation_p.Y197C|ESR1_ENST00000544394.1_Missense_Mutation_p.Y24C NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 197 Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) GGCTACCATTATGGAGTCTGG 0.453000 8 99 0 0 0.307466 0 0 TNKS2 80351 broad.mit.edu 37 10 93602119 93602119 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:93602119G>A ENST00000371627.4 + 16 2409 c.2030G>A c.(2029-2031)gGc>gAc p.G677D NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 677 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) GATACCCAAGGCAGACATTCA 0.403000 5 104 0 0 0.217242 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498545 123498545 + Missense_Mutation SNP C C G TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr12:123498545C>G ENST00000280562.5 - 3 328 c.123G>C c.(121-123)gaG>gaC p.E41D PITPNM2_ENST00000542749.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000392428.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000546049.1_Missense_Mutation_p.E41D|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E41D|PITPNM2_ENST00000451868.2_5'UTR Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 41 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TCTCCAGGATCTCCACGCCGC 0.587000 4 108 0 0 0.150653 0 0 FBN2 2201 broad.mit.edu 37 5 127599146 127599147 + Frame_Shift_Ins INS - - C TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr5:127599146_127599147insC ENST00000508053.1 - 69 9136_9137 c.8162_8163insG c.(8161-8163)tccfs p.S2721fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.S2721fs P35556 FBN2_HUMAN fibrillin 2 2721 EGF-like 47; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACCCAGGGGGGCAGCCACAGAG 0.584 17 206 --- --- --- --- CCT6P3 643180 broad.mit.edu 37 7 64532452 64532452 + RNA DEL T T - rs67432959 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr7:64532452delT ENST00000426828.1 + 0 1228 NR_033416.1 atgcccagccttttttttttt 0.408 4 2 --- --- --- --- GPR158 57512 broad.mit.edu 37 10 25464475 25464476 + Frame_Shift_Ins INS - - A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr10:25464475_25464476insA ENST00000376351.3 + 1 485_486 c.126_127insA c.(124-129)ggagccfs p.A43fs GPR158-AS1_ENST00000449643.1_RNA NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 43 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CCCCGAAGGGGAAGCCGCACGC 0.688 12 51 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 7 68 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 3 5 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578222 7578223 + Frame_Shift_Del DEL TC TC - TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr17:7578222_7578223delTC ENST00000420246.2 - 6 758_759 c.626_627delGA c.(625-627)afs p.R209fs TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 209 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(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) GAAAAGTGTTTCTGTCATCCAA 0.535 111 """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) 19 87 --- --- --- --- AP000705.7 0 broad.mit.edu 37 21 23605003 23605003 + RNA DEL A A - rs66463347 TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr21:23605003delA ENST00000444130.1 + 0 385 ggaaggaaggaaaagaaggaa 0.388 2 4 --- --- --- --- CELSR1 9620 broad.mit.edu 37 22 46777939 46777939 + Frame_Shift_Del DEL G G - TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 498c0b1f-678f-4f70-b0d1-aad89bfa2a23 125882f9-462f-4cc5-935e-4b8b253c1cce g.chr22:46777939delG ENST00000262738.3 - 21 6891 c.6892delC c.(6892-6894)tgfs p.L2299fs NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2299 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGCCTCAGCAGGGGGCCTTCT 0.667 2 4 --- --- --- ---