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 FUT7 2529 broad.mit.edu 37 9 139925558 139925558 + Silent SNP G G A rs144968285 TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr9:139925558G>A ENST00000314412.6 - 2 1651 c.633C>T c.(631-633)tgC>tgT p.C211C C9orf139_ENST00000314330.2_Intron NM_004479.3 NP_004470.1 Q11130 FUT7_HUMAN fucosyltransferase 7 (alpha (1,3) fucosyltransferase) 211 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1) 8 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GGCAGCTGGCGCACAGTGGCC 0.627000 15 146 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276799 15276799 + Silent SNP G G A rs148053028 TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr19:15276799G>A ENST00000263388.2 - 30 5541 c.5466C>T c.(5464-5466)tcC>tcT p.S1822S NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1822 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AGATCAGGTCGGAGATGATGC 0.602000 8 18 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098130 220098130 + Missense_Mutation SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr2:220098130G>A ENST00000323348.5 + 7 968 c.794G>A c.(793-795)cGc>cAc p.R265H ANKZF1_ENST00000409849.1_Missense_Mutation_p.R55H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R265H NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 265 intracellular zinc ion binding p.R265L(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AACCTGAGGCGCTACAATGAA 0.512000 8 18 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5369234 5369234 + Missense_Mutation SNP A A G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr6:5369234A>G ENST00000324331.6 + 2 767 c.431A>G c.(430-432)tAt>tGt p.Y144C FARS2_ENST00000274680.4_Missense_Mutation_p.Y144C O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 144 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) GGGGACAACTATTACCTGAAT 0.572000 18 43 0 0 1 0 0 DEFB129 140881 broad.mit.edu 37 20 207948 207948 + Missense_Mutation SNP A A G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr20:207948A>G ENST00000246105.4 + 1 50 c.19A>G c.(19-21)Atc>Gtc p.I7V NM_080831.3 NP_543021.1 Q9H1M3 DB129_HUMAN defensin, beta 129 7 defense response to bacterium extracellular region endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CCTTTTTCCTATCTTTGCCAG 0.498000 11 73 0 0 1 0 0 CCDC13 152206 broad.mit.edu 37 3 42751216 42751216 + Missense_Mutation SNP C C G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr3:42751216C>G ENST00000310232.6 - 15 2031 c.1948G>C c.(1948-1950)Gat>Cat p.D650H NM_144719.3 NP_653320.3 Q8IYE1 CCD13_HUMAN coiled-coil domain containing 13 650 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 ACGGGCACATCGGAGAGCTGG 0.592000 6 81 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188242556 188242556 + Missense_Mutation SNP A A G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr3:188242556A>G ENST00000312675.4 + 5 656 c.410A>G c.(409-411)tAt>tGt p.Y137C LPP_ENST00000448637.1_Missense_Mutation_p.Y137C|LPP_ENST00000543006.1_Missense_Mutation_p.Y137C NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 137 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) AGCTCCCCCTATAAGCCTCGG 0.537000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 30 110 0 0 1 0 0 LPGAT1 9926 broad.mit.edu 37 1 211923271 211923271 + Silent SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr1:211923271G>A ENST00000366997.4 - 8 1309 c.1083C>T c.(1081-1083)atC>atT p.I361I LPGAT1_ENST00000366996.1_Silent_p.I361I NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 361 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) AATACTGAATGATGTTGTACC 0.398000 4 125 0 0 1 0 0 FAM102B 284611 broad.mit.edu 37 1 109143213 109143213 + Missense_Mutation SNP C C A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr1:109143213C>A ENST00000370035.3 + 2 503 c.163C>A c.(163-165)Cgc>Agc p.R55S FAM102B_ENST00000405454.1_Missense_Mutation_p.R55S NM_001010883.2 NP_001010883.2 Q5T8I3 F102B_HUMAN family with sequence similarity 102, member B 55 autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) AAACTGTGTTCGCTGGAGAAA 0.398000 3 55 0.115264 0.115264 1 1 0 OR6S1 341799 broad.mit.edu 37 14 21109704 21109704 + Silent SNP C C G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr14:21109704C>G ENST00000320704.3 - 1 146 c.147G>C c.(145-147)ggG>ggC p.G49G NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CCCTTACCACCCCCACAATCA 0.463000 24 64 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116263608 116263608 + Missense_Mutation SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr6:116263608G>A ENST00000606080.1 - 8 1933 c.1487C>T c.(1486-1488)tCa>tTa p.S496L FRK_ENST00000538210.1_Missense_Mutation_p.S354L NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 496 negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) ATCTGAATATGAAGAGTCTGT 0.343000 19 56 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4694806 4694806 + Silent SNP T T C TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr19:4694806T>C ENST00000262960.9 - 13 1660 c.1383A>G c.(1381-1383)caA>caG p.Q461Q DPP9_ENST00000598800.1_Silent_p.Q432Q|DPP9_ENST00000597849.1_Silent_p.Q461Q|DPP9_ENST00000594671.1_Silent_p.Q432Q NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 432 L -> F (in Ref. 7; CAD39039). proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CTCCCTCTGATTGGGGGAAGG 0.532000 15 19 0 0 1 0 0 NPAS4 266743 broad.mit.edu 37 11 66190206 66190206 + Missense_Mutation SNP C C A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr11:66190206C>A ENST00000311034.2 + 4 668 c.492C>A c.(490-492)aaC>aaA p.N164K NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 164 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 GTGCAGGCAACAAACTCGTGC 0.552000 14 34 1.15088e-07 1.24174e-07 1 1 0 MRPS18B 28973 broad.mit.edu 37 6 30593484 30593484 + Silent SNP C C T rs148815125 byFrequency TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr6:30593484C>T ENST00000259873.4 + 7 844 c.687C>T c.(685-687)ggC>ggT p.G229G MRPS18B_ENST00000506373.2_3'UTR|MRPS18B_ENST00000472229.1_3'UTR NM_014046.3 NP_054765.1 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B 229 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2) 13 AAGAGAGTGGCCCCCCACCTG 0.592000 13 67 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14108529 14108529 + Silent SNP G G C TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr1:14108529G>C ENST00000235372.7 + 8 5095 c.4239G>C c.(4237-4239)tcG>tcC p.S1413S PRDM2_ENST00000413440.1_Silent_p.S1212S|PRDM2_ENST00000311066.5_Silent_p.S1413S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1212S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1413 Arg/Lys-rich (basic). Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S1413S(1) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GCAAAATGTCGTCGAATAAGC 0.393000 30 55 0 0 1 0 0 DPM1 8813 broad.mit.edu 37 20 49557452 49557452 + Missense_Mutation SNP T T A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr20:49557452T>A ENST00000371582.4 - 8 625 c.594A>T c.(592-594)ttA>ttT p.L198F DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Missense_Mutation_p.L171F|DPM1_ENST00000371583.5_Missense_Mutation_p.L166F O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 171 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 7 AGATCTGAGTTAAAAAATTGG 0.343000 26 64 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46415244 46415244 + Missense_Mutation SNP C C G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr3:46415244C>G ENST00000343801.4 + 3 1208 c.851C>G c.(850-852)aCt>aGt p.T284S CCR5_ENST00000445772.1_Missense_Mutation_p.T284S|CCR5_ENST00000292303.4_Missense_Mutation_p.T284S|RP11-24F11.2_ENST00000451485.1_RNA NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 284 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GTGACAGAGACTCTTGGGATG 0.468000 26 269 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95518093 95518093 + Silent SNP C C G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr10:95518093C>G ENST00000371418.4 + 1 452 c.192C>G c.(190-192)acC>acG p.T64T LGI1_ENST00000371413.3_Silent_p.T64T|LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Silent_p.T64T NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 64 LRRNT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TTCCACGCACCGTTCCTCCTG 0.438000 7 78 0 0 1 0 0 NDUFA9 4704 broad.mit.edu 37 12 4771727 4771727 + Missense_Mutation SNP C C A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr12:4771727C>A ENST00000266544.5 + 6 601 c.581C>A c.(580-582)gCa>gAa p.A194E NM_005002.4 NP_004993.1 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa 194 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 NADH(DB00157) GTGAGAGATGCATTTCCGGAA 0.373000 4 102 0.014758 0.0151269 1 1 0 AK8 158067 broad.mit.edu 37 9 135730299 135730299 + Missense_Mutation SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr9:135730299G>A ENST00000298545.3 - 5 868 c.347C>T c.(346-348)gCg>gTg p.A116V AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 116 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 GACGAGCAGCGCGCTGGGAAC 0.547000 13 28 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3391659 3391659 + Missense_Mutation SNP C C T TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr2:3391659C>T ENST00000324266.5 + 2 460 c.265C>T c.(265-267)Cgg>Tgg p.R89W TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 89 binding GGGCCGAGTGCGGGACGAAGC 0.711000 2 2 0 0 1 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880318 105880318 + Missense_Mutation SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr11:105880318G>A ENST00000301919.4 - 3 2397 c.982C>T c.(982-984)Cgc>Tgc p.R328C MSANTD4_ENST00000529805.1_5'UTR NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 328 nucleus ACCTGTAAGCGTTCCTTTTCA 0.393000 17 72 0 0 1 0 0 TUBG2 27175 broad.mit.edu 37 17 40818390 40818390 + Missense_Mutation SNP T T G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr17:40818390T>G ENST00000251412.7 + 10 1245 c.1046T>G c.(1045-1047)aTc>aGc p.I349S NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 349 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) GCCAACTTCATCCCGTGGGGC 0.662000 13 25 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567051 136567051 + Missense_Mutation SNP A A C TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr2:136567051A>C ENST00000264162.2 - 8 2876 c.2866T>G c.(2866-2868)Tat>Gat p.Y956D NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 956 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCTGGTGATAGCTGTCACAG 0.527000 25 56 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116931620 116931620 + Silent SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr9:116931620G>A ENST00000356083.3 + 3 2176 c.1785G>A c.(1783-1785)gcG>gcA p.A595A NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 595 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TGGCCCCGGCGCAATTCCTGT 0.657000 23 52 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544340 23544340 + Missense_Mutation SNP T T C TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr19:23544340T>C ENST00000300619.7 - 4 1646 c.1441A>G c.(1441-1443)Aag>Gag p.K481E ZNF91_ENST00000397082.2_Missense_Mutation_p.K449E|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 481 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TGTATCCTCTTATGTCTAGTT 0.363000 31 70 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212293169 212293169 + Missense_Mutation SNP T T C TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr2:212293169T>C ENST00000342788.4 - 22 2993 c.2683A>G c.(2683-2685)Agg>Ggg p.R895G ERBB4_ENST00000402597.1_Missense_Mutation_p.R885G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R895G NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 895 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTGAATTTCCTGTAATGTATA 0.299000 TSP Lung(8;0.080) 29 94 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36307352 36307352 + Splice_Site SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr1:36307352G>A ENST00000373210.3 + 15 2420 c.e15+1 AGO4_ENST00000488778.1_Splice_Site NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 AACAGAAAGGGTAAGAAGATA 0.313000 13 54 0 0 1 0 0 FH 2271 broad.mit.edu 37 1 241671932 241671932 + Missense_Mutation SNP G G T TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr1:241671932G>T ENST00000366560.3 - 5 747 c.709C>A c.(709-711)Cag>Aag p.Q237K NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 237 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) ACAGCATCCTGAGTATGAGTA 0.398000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 5 62 1.23904e-05 1.30258e-05 1 1 0 SALL1 6299 broad.mit.edu 37 16 51175661 51175661 + Missense_Mutation SNP T T C rs139646526 byFrequency TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr16:51175661T>C ENST00000440970.1 - 2 612 c.181A>G c.(181-183)Agc>Ggc p.S61G SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 158 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ccgccgctgctgctgctgctg 0.632000 4 43 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225371708 225371708 + Missense_Mutation SNP A A C TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr2:225371708A>C ENST00000264414.4 - 7 1234 c.896T>G c.(895-897)aTg>aGg p.M299R CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000409777.1_Missense_Mutation_p.M275R|CUL3_ENST00000344951.4_Missense_Mutation_p.M233R NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 299 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding p.M299R(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TAACTTGTACATGCAACCAAG 0.358000 11 29 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90258216 90258216 + Missense_Mutation SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr15:90258216G>A ENST00000268130.7 + 6 747 c.646G>A c.(646-648)Gga>Aga p.G216R WDR93_ENST00000560294.1_Missense_Mutation_p.G216R NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 216 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) TGCAGGAGCCGGAGATATTTG 0.453000 8 29 0 0 1 0 0 PRSS8 5652 broad.mit.edu 37 16 31143854 31143854 + Missense_Mutation SNP A A T TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr16:31143854A>T ENST00000317508.6 - 5 864 c.601T>A c.(601-603)Tgt>Agt p.C201S PRSS8_ENST00000568261.1_Missense_Mutation_p.C147S NM_002773.3 NP_002764.1 Q16651 PRSS8_HUMAN protease, serine, 8 201 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 AGGCAGTTACACGTCTCACGA 0.607000 20 51 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41615618 41615618 + Missense_Mutation SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr8:41615618G>A ENST00000396942.1 - 2 148 c.65C>T c.(64-66)tCa>tTa p.S22L ANK1_ENST00000347528.4_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L|ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L P16157 ANK1_HUMAN ankyrin 1, erythrocytic 22 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.S22L(1)|p.S55L(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CAAGTTACCTGATCTTGCTGC 0.507000 25 807 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16621337 16621337 + Missense_Mutation SNP A A G TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr1:16621337A>G ENST00000375592.3 - 4 659 c.443T>C c.(442-444)tTc>tCc p.F148S FBXO42_ENST00000478089.1_5'UTR NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 148 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GAGGTCATTGAAAGCAGCATT 0.433000 3 60 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74703250 74703250 + Silent SNP G G A TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr15:74703250G>A ENST00000261918.4 - 14 2264 c.1716C>T c.(1714-1716)caC>caT p.H572H SEMA7A_ENST00000543145.2_Silent_p.H558H|SEMA7A_ENST00000542748.1_Silent_p.H407H NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 572 Ig-like C2-type. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 AGTAGGTGGCGTGGCGGGATT 0.622000 16 60 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 3 30 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 3 5 --- --- --- --- ABCA13 154664 broad.mit.edu 37 7 48411971 48411972 + Frame_Shift_Ins INS - - T TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr7:48411971_48411972insT ENST00000435803.1 + 33 11034_11035 c.11010_11011insT c.(11008-11013)gcttttfs p.AF3670fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3670 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TCTTGAGTGCATTTTTCAGCCA 0.426 18 182 --- --- --- --- ELMSAN1 91748 broad.mit.edu 37 14 74186068 74186069 + Frame_Shift_Ins INS - - T rs111577434 TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr14:74186068_74186069insT ENST00000286523.5 - 12 3855_3856 c.3073_3074insA c.(3073-3075)agafs p.R1025fs ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.R1025fs NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GAATGTCTCTGTTTTTTTCTTC 0.569 8 21 --- --- --- --- IREB2 3658 broad.mit.edu 37 15 78786337 78786337 + Frame_Shift_Del DEL T T - TCGA-V1-A9Z7-01A-11D-A41K-08 TCGA-V1-A9Z7-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 10f30605-2413-49d7-a9e7-042fb7c2c336 87158802-66e8-4c56-9f08-3cb5033e6cb4 g.chr15:78786337delT ENST00000258886.8 + 19 2560 c.2411delT c.(2410-2412)ctfs p.L804fs NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 804 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AATATCAAGCTTTTTAATAAG 0.363 25 55 --- --- --- ---