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 SSX2IP 117178 broad.mit.edu 37 1 85116179 85116179 + Silent SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr1:85116179C>T ENST00000437941.2 - 12 1807 c.1455G>A c.(1453-1455)tcG>tcA p.S485S SSX2IP_ENST00000370612.4_Silent_p.S512S|SSX2IP_ENST00000342203.3_Silent_p.S512S|SSX2IP_ENST00000605755.1_Silent_p.S485S|SSX2IP_ENST00000603677.1_Silent_p.S31S NM_001166295.1|NM_001166417.1 NP_001159767.1|NP_001159889.1 Q9Y2D8 ADIP_HUMAN synovial sarcoma, X breakpoint 2 interacting protein 512 cell adhesion nucleus|protein complex endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1) 19 all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173) GCGGCTGCCTCGAGTGCACTA 0.413000 7 149 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089838 12089838 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr19:12089838C>T ENST00000343949.5 + 4 1263 c.1108C>T c.(1108-1110)Cct>Tct p.P370S ZNF763_ENST00000590798.1_Missense_Mutation_p.P387S|ZNF763_ENST00000545530.1_Missense_Mutation_p.P245S|ZNF763_ENST00000538752.1_Missense_Mutation_p.P387S|ZNF763_ENST00000358987.3_Missense_Mutation_p.P367S NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TGCGAAAAAACCTTATGAATG 0.398000 52 81 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1903277 1903277 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr20:1903277C>T ENST00000358771.4 + 4 1225 c.1073C>T c.(1072-1074)tCa>tTa p.S358L SIRPA_ENST00000356025.3_Missense_Mutation_p.S358L|SIRPA_ENST00000400068.3_Missense_Mutation_p.S358L NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 358 blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GAGCAGGGCTCAAATACCGCC 0.488000 4 13 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 88 0 0 1 0 0 TFDP3 51270 broad.mit.edu 37 X 132351178 132351178 + Silent SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chrX:132351178G>A ENST00000310125.4 - 1 1198 c.1110C>T c.(1108-1110)tcC>tcT p.S370S NM_016521.2 NP_057605.3 Q5H9I0 TFDP3_HUMAN transcription factor Dp family, member 3 370 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2) 19 Acute lymphoblastic leukemia(192;0.000127) GAGATCCACCGGAGCTTGTGG 0.572000 4 69 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75289357 75289357 + Missense_Mutation SNP C C G TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr10:75289357C>G ENST00000319786.7 - 15 2984 c.2141G>C c.(2140-2142)aGa>aCa p.R714T USP54_ENST00000408019.1_Intron|USP54_ENST00000394811.2_Intron|USP54_ENST00000339859.4_Intron|USP54_ENST00000428547.1_Intron|USP54_ENST00000497106.1_Intron Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 0 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CTCCACTTGTCTCAGCCATGC 0.473000 OREG0020266 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 32 0 0 1 0 0 KCNA10 3744 broad.mit.edu 37 1 111060344 111060344 + Missense_Mutation SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr1:111060344G>A ENST00000369771.2 - 1 1453 c.1066C>T c.(1066-1068)Cgc>Tgc p.R356C NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 356 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity p.R356C(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TTGGAGTGGCGCGAGAGCTTG 0.572000 9 98 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104678735 104678735 + Missense_Mutation SNP C C A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr10:104678735C>A ENST00000369878.3 + 1 622 c.498C>A c.(496-498)aaC>aaA p.N166K CNNM2_ENST00000433628.2_Missense_Mutation_p.N166K|CNNM2_ENST00000369875.3_Missense_Mutation_p.N166K NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 166 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCATTCTCAACCGCCGCACCT 0.647000 8 165 5.18039e-06 5.77244e-06 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141253252 141253252 + Silent SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr2:141253252G>A ENST00000389484.3 - 56 9887 c.8916C>T c.(8914-8916)tgC>tgT p.C2972C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2972 EGF-like 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGCCTGAAGAGCATTCATCAA 0.418000 TSP Lung(27;0.18) 9 46 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644447 20644447 + RNA SNP T T G TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr15:20644447T>G ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGACGGCCACTCACCTCTGAG 0.637000 8 9 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135024980 135024980 + Silent SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr10:135024980C>T ENST00000304613.3 + 22 3984 c.3963C>T c.(3961-3963)tgC>tgT p.C1321C KNDC1_ENST00000368572.2_Silent_p.C1323C Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1321 N-terminal Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGAGCCTCTGCGTCCTGCAGG 0.642000 27 45 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45219653 45219653 + Silent SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr17:45219653C>T ENST00000066544.3 - 11 1413 c.1320G>A c.(1318-1320)ggG>ggA p.G440G CDC27_ENST00000527547.1_Silent_p.G440G|CDC27_ENST00000531206.1_Silent_p.G446G|CDC27_ENST00000446365.2_Silent_p.G379G NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 440 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGGATATTTTCCCTTCTGAAA 0.313000 3 22 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49934916 49934916 + Splice_Site SNP G G T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr12:49934916G>T ENST00000257981.6 + 2 570 c.e2+1 KCNH3_ENST00000550434.1_Splice_Site NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CGGAAGAGCGGTGAGGGGCCA 0.617000 8 11 0.00307968 0.00333632 1 1 0 LAMA3 3909 broad.mit.edu 37 18 21484015 21484015 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr18:21484015C>T ENST00000313654.9 + 50 6678 c.6437C>T c.(6436-6438)gCg>gTg p.A2146V LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2090V|LAMA3_ENST00000587184.1_Missense_Mutation_p.A481V|LAMA3_ENST00000269217.6_Missense_Mutation_p.A537V NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2146 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAAAGCACGCGCGGTCCTTA 0.522000 7 88 0 0 1 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54108441 54108441 + Missense_Mutation SNP G G T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr12:54108441G>T ENST00000548263.1 - 11 1471 c.1423C>A c.(1423-1425)Ctg>Atg p.L475M CALCOCO1_ENST00000430117.2_Missense_Mutation_p.L390M|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.L475M|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.L475M Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 475 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 GCTGACCGCAGCTCTGTCAGC 0.562000 4 30 0.150653 0.150653 1 1 0 CHST11 50515 broad.mit.edu 37 12 105150943 105150943 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr12:105150943C>T ENST00000303694.5 + 3 860 c.421C>T c.(421-423)Cgg>Tgg p.R141W CHST11_ENST00000549260.1_Missense_Mutation_p.R136W NM_018413.5 NP_060883.1 Q9NPF2 CHSTB_HUMAN carbohydrate (chondroitin 4) sulfotransferase 11 141 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 CCTGACCGGGCGGGGGAAGTA 0.597000 6 51 0 0 1 0 0 RPL10 6134 broad.mit.edu 37 X 153628938 153628938 + Missense_Mutation SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chrX:153628938G>A ENST00000424325.2 + 6 651 c.463G>A c.(463-465)Gcc>Acc p.A155T RPL10_ENST00000406022.2_Missense_Mutation_p.A104T|RPL10_ENST00000369817.2_Missense_Mutation_p.A155T NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 155 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTGCGCAGGGCCAAGTTCAA 0.582000 3 42 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517850 158517850 + Missense_Mutation SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr1:158517850G>A ENST00000302617.3 - 1 45 c.46C>T c.(46-48)Cgt>Tgt p.R16C NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) AGAATGAAACGTGTTGTCACT 0.458000 17 38 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98513418 98513418 + Silent SNP T T C TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr7:98513418T>C ENST00000359863.4 + 19 2481 c.2272T>C c.(2272-2274)Ttg>Ctg p.L758L TRRAP_ENST00000355540.3_Silent_p.L758L|TRRAP_ENST00000446306.3_Silent_p.L757L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 758 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAACTACTTCTTGCTGCTACG 0.532000 4 83 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156883723 156883723 + Silent SNP G G T rs150673528 TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr1:156883723G>T ENST00000338302.3 + 23 3018 c.2793G>T c.(2791-2793)ctG>ctT p.L931L PEAR1_ENST00000292357.7_Silent_p.L931L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 931 Pro-rich. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TCCGGGACCTGCCCAGCTTGC 0.617000 3 20 0.115264 0.118297 1 1 0 TUSC5 286753 broad.mit.edu 37 17 1183349 1183349 + Silent SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr17:1183349C>T ENST00000333813.3 + 1 393 c.54C>T c.(52-54)gcC>gcT p.A18A NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 18 A -> T. response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CAGGCTCCGCCGCATTCCTGG 0.642000 9 65 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 44 0 0 1 0 0 SLC5A5 6528 broad.mit.edu 37 19 17993012 17993012 + Missense_Mutation SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr19:17993012G>A ENST00000222248.3 + 10 1573 c.1226G>A c.(1225-1227)gGa>gAa p.G409E NM_000453.2 NP_000444.1 Q92911 SC5A5_HUMAN solute carrier family 5 (sodium/iodide cotransporter), member 5 409 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TCACTGCTCGGAGGAGGTGTC 0.617000 13 25 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060807 12060807 + Silent SNP A A G TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr19:12060807A>G ENST00000482090.1 + 3 2332 c.1914A>G c.(1912-1914)gcA>gcG p.A638A ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.A656A Q9H0M5 ZN700_HUMAN zinc finger protein 700 656 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GCGAAAAAGCATTCTGTAAAT 0.418000 6 63 0 0 1 0 0 PPAT 5471 broad.mit.edu 37 4 57261635 57261635 + Missense_Mutation SNP T T A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr4:57261635T>A ENST00000264220.2 - 11 1574 c.1437A>T c.(1435-1437)aaA>aaT p.K479N NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 479 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) GCTTTTTCTCTTTCTGTTTTT 0.358000 4 45 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15534433 15534433 + Missense_Mutation SNP T T C TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr2:15534433T>C ENST00000281513.5 - 28 3200 c.3175A>G c.(3175-3177)Att>Gtt p.I1059V NBAS_ENST00000441750.1_Missense_Mutation_p.I939V NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1059 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ACAAATGAAATTGGTTTCTCG 0.363000 3 50 0 0 1 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28210279 28210279 + Silent SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr21:28210279G>A ENST00000284984.2 - 9 2977 c.2523C>T c.(2521-2523)ttC>ttT p.F841F NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 841 Spacer. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) TCTTCTTTACGAAGTAGGTGT 0.443000 3 49 0 0 1 0 0 MEF2A 0 broad.mit.edu 37 15 100211761 100211761 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr15:100211761C>T ENST00000354410.5 + 5 924 c.295C>T c.(295-297)Cca>Tca p.P99S MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000453228.2_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000338042.6_Intron NM_005587.2 NP_005578.2 Q02078 MEF2A_HUMAN myocyte enhancer factor 2A 99 apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development nuclear chromatin|nucleoplasm activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding p.P99S(3) endometrium(2)|large_intestine(2)|lung(7)|ovary(1) 12 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00085) GTGCGACAGCCCAGACCCTGA 0.333000 3 29 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78337016 78337016 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr17:78337016C>T ENST00000582970.1 + 40 11613 c.11470C>T c.(11470-11472)Cgt>Tgt p.R3824C RNF213_ENST00000508628.2_Missense_Mutation_p.R3873C|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R1897C|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTTCAGAAGCCGTCTGCAGAA 0.552000 24 46 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 4 23 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60033834 60033834 + Missense_Mutation SNP C C T TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr17:60033834C>T ENST00000397786.2 - 24 5565 c.5489G>A c.(5488-5490)cGg>cAg p.R1830Q NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1830 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ACTTTTTTTCCGACGAGCCCT 0.358000 23 64 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418827 105418827 + Silent SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr14:105418827G>A ENST00000333244.5 - 7 3080 c.2961C>T c.(2959-2961)gcC>gcT p.A987A AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 987 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CGTCCTTGTCGGCCAGGGACA 0.617000 8 519 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135282924 135282924 + Missense_Mutation SNP G G A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr7:135282924G>A ENST00000285968.6 + 15 2269 c.2243G>A c.(2242-2244)cGt>cAt p.R748H NUP205_ENST00000440390.2_3'UTR NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 748 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 CTACGATTCCGTACAAGAGCT 0.428000 5 181 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6934826 6934827 + Frame_Shift_Ins INS - - A TCGA-VN-A88M-01A-11D-A34U-08 TCGA-VN-A88M-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 06941061-7bb1-4dce-9bf7-c107d90e0017 71c317f6-14a3-48e0-a4b2-d53d72060ff3 g.chr12:6934826_6934827insA ENST00000311268.3 + 3 1832_1833 c.1045_1046insA c.(1045-1047)tggfs p.W349fs GPR162_ENST00000382315.3_Frame_Shift_Ins_p.W45fs|GPR162_ENST00000428545.2_Frame_Shift_Ins_p.W65fs NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 349 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GTCTGAGGAGGATGGAGATGAC 0.609 OREG0021636 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- ---