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 C14orf159 80017 broad.mit.edu 37 14 91639743 91639743 + Silent SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr14:91639743C>T ENST00000518868.1 + 9 1257 c.567C>T c.(565-567)ctC>ctT p.L189L C14orf159_ENST00000525393.2_Silent_p.L60L|C14orf159_ENST00000523816.1_Silent_p.L184L|C14orf159_ENST00000428926.2_Silent_p.L184L|C14orf159_ENST00000412671.2_Silent_p.L189L|C14orf159_ENST00000522322.1_Silent_p.L184L|C14orf159_ENST00000523771.1_Silent_p.L184L|C14orf159_ENST00000256324.10_Silent_p.L189L|C14orf159_ENST00000521077.2_Silent_p.L189L|C14orf159_ENST00000520328.1_Silent_p.L184L Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 184 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GCTGCTCCCTCGGAGGTGAGC 0.612000 OREG0022869 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 21 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22657646 22657646 + RNA SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr22:22657646C>T ENST00000426066.1 + 0 58 NR_027293.1 AAGGGAAAATCGGGCCCCGAT 0.507000 4 22 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141730215 141730215 + Silent SNP T T C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr7:141730215T>C ENST00000475668.2 + 11 1329 c.1275T>C c.(1273-1275)taT>taC p.Y425Y MGAM_ENST00000549489.2_Silent_p.Y425Y O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 425 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTTCACTTATGATTCAGTGG 0.383000 18 17 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 21 28 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28320051 28320051 + Missense_Mutation SNP T T A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr1:28320051T>A ENST00000373871.3 - 14 1403 c.1163A>T c.(1162-1164)gAt>gTt p.D388V EYA3_ENST00000373863.3_Missense_Mutation_p.D342V|EYA3_ENST00000545175.1_Missense_Mutation_p.D335V|EYA3_ENST00000540618.1_Missense_Mutation_p.D342V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.D262V|EYA3_ENST00000373864.1_Missense_Mutation_p.D231V Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 388 D -> N (in Ref. 1; CAA71311). anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) ACTGAAACCATCTGTTGAGAA 0.428000 24 22 0 0 1 0 0 BZW1 9689 broad.mit.edu 37 2 201686894 201686894 + Missense_Mutation SNP G G T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr2:201686894G>T ENST00000409600.1 + 12 1708 c.1253G>T c.(1252-1254)gGt>gTt p.G418V BZW1_ENST00000409226.1_Missense_Mutation_p.G422V|BZW1_ENST00000452790.2_Missense_Mutation_p.G450V NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 418 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 GCTGAAGAAGGTGACTGAATT 0.373000 4 18 1.23904e-05 1.27081e-05 1 1 0 ANK3 288 broad.mit.edu 37 10 61829127 61829127 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr10:61829127G>A ENST00000280772.1 - 37 11703 c.11512C>T c.(11512-11514)Cac>Tac p.H3838Y ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3838 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTTACACAGTGTCCTTGTAGT 0.398000 55 138 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 125032328 125032328 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr3:125032328G>A ENST00000360647.4 - 4 642 c.157C>T c.(157-159)Cct>Tct p.P53S ZNF148_ENST00000484491.1_Missense_Mutation_p.P53S|ZNF148_ENST00000485866.1_Missense_Mutation_p.P53S|ZNF148_ENST00000492394.1_Missense_Mutation_p.P53S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 53 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TCCTGGTGAGGCATACTTCGA 0.453000 4 76 0 0 1 0 0 TMEM98 26022 broad.mit.edu 37 17 31260234 31260234 + Silent SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr17:31260234G>A ENST00000579849.1 + 4 605 c.174G>A c.(172-174)gaG>gaA p.E58E TMEM98_ENST00000394642.3_Silent_p.E58E|TMEM98_ENST00000578289.1_Silent_p.E58E NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 58 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) CCCAGTCTGAGCCCTCTGAGT 0.532000 17 33 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683256 50683256 + Missense_Mutation SNP T T A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:50683256T>A ENST00000008391.3 + 2 695 c.467T>A c.(466-468)aTg>aAg p.M156K NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 156 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CAGTATGGAATGCACCCAGAT 0.617000 49 53 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31779452 31779452 + Missense_Mutation SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:31779452C>T ENST00000375654.4 - 2 487 c.298G>A c.(298-300)Gga>Aga p.G100R HSPA1L_ENST00000417199.3_Missense_Mutation_p.G100R NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 100 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGCTTGCCTCCTTCATTAATC 0.413000 4 121 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 29 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62039370 62039370 + Missense_Mutation SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr10:62039370C>T ENST00000280772.1 - 2 333 c.142G>A c.(142-144)Gca>Aca p.A48T ANK3_ENST00000373827.2_Missense_Mutation_p.A42T|ANK3_ENST00000503366.1_Missense_Mutation_p.A31T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 48 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GCTCGAGCTGCTCTTAAGTAA 0.343000 37 71 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11995945 11995945 + Silent SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr8:11995945G>A ENST00000333796.3 - 1 641 c.325C>T c.(325-327)Ctg>Ttg p.L109L FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 109 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 TCCCGGGACAGCATGTAGTTG 0.567000 17 41 0 0 1 0 0 STAC3 246329 broad.mit.edu 37 12 57642487 57642487 + Splice_Site SNP A A C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr12:57642487A>C ENST00000332782.2 - 4 634 c.e4+1 STAC3_ENST00000554578.1_Splice_Site|STAC3_ENST00000546246.2_Intron NM_145064.1 NP_659501.1 Q96MF2 STAC3_HUMAN SH3 and cysteine rich domain 3 intracellular signal transduction identical protein binding|metal ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1) 18 CAGCCTACTCACGATCTTGCC 0.542000 9 405 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94223489 94223489 + Splice_Site SNP T T A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr10:94223489T>A ENST00000265986.6 - 21 2816 c.2761_splice c.e21+1 p.R920_splice IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Splice_Site_p.R365_splice NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 920 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTACCTTACCTCTGTCAAAAT 0.373000 9 110 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124530814 124530814 + Missense_Mutation SNP C C T TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr9:124530814C>T ENST00000408936.3 + 10 1983 c.1801C>T c.(1801-1803)Ctc>Ttc p.L601F DAB2IP_ENST00000259371.2_Missense_Mutation_p.L573F|DAB2IP_ENST00000309989.1_Missense_Mutation_p.L477F Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 601 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCCCGAGACCCTCTCCAATAC 0.597000 68 33 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65253674 65253674 + Splice_Site SNP T T C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chrX:65253674T>C ENST00000455586.2 - 2 182 c.e2-2 VSIG4_ENST00000412866.2_Splice_Site|VSIG4_ENST00000374737.4_Splice_Site NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGGGACGGCCTGAAGAGGCGG 0.512000 10 8 0 0 1 0 0 RAB6A 5870 broad.mit.edu 37 11 73388973 73388973 + Silent SNP T T C TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr11:73388973T>C ENST00000310653.6 - 8 1098 c.597A>G c.(595-597)caA>caG p.Q199Q RAB6A_ENST00000336083.3_Silent_p.Q199Q|RAB6A_ENST00000541588.1_Silent_p.Q95Q|RAB6A_ENST00000536566.1_Silent_p.Q166Q NM_001077637.1|NM_002869.4 NP_001071105.1|NP_002860.2 P20340 RAB6A_HUMAN RAB6A, member RAS oncogene family 199 minus-end-directed organelle transport along microtubule|peptidyl-cysteine methylation|protein targeting to Golgi|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction cytoplasmic vesicle|cytosol|Golgi membrane|trans-Golgi network GTP binding|GTPase activity|protein domain specific binding large_intestine(2)|lung(2) 4 CACTGACTGGTTGCTCCTGAG 0.418000 4 77 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 3 36 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89926980 89926980 + Missense_Mutation SNP G G A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:89926980G>A ENST00000435811.1 - 1 516 c.62C>T c.(61-63)gCc>gTc p.A21V GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000454853.2_Missense_Mutation_p.A21V NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 21 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GCTTTCAGTGGCCAAAACCCA 0.463000 3 34 0 0 1 0 0 VPS37A 137492 broad.mit.edu 37 8 17123483 17123483 + Missense_Mutation SNP A A G TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr8:17123483A>G ENST00000324849.4 + 2 867 c.193A>G c.(193-195)Att>Gtt p.I65V VPS37A_ENST00000521829.1_Intron|VPS37A_ENST00000324815.3_Missense_Mutation_p.I65V NM_001145152.1|NM_152415.2 NP_001138624.1|NP_689628.2 Q8NEZ2 VP37A_HUMAN vacuolar protein sorting 37 homolog A (S. cerevisiae) 65 cellular membrane organization|endosome transport|protein transport centrosome|late endosome membrane|nucleus autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1) 10 Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212) GACAATTAACATTAATATGTG 0.284000 10 72 0 0 1 0 0 CLEC18B 497190 broad.mit.edu 37 16 74443772 74443772 + Missense_Mutation SNP C C T rs139908030 byFrequency TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr16:74443772C>T ENST00000339953.5 - 11 1337 c.1216G>A c.(1216-1218)Gtg>Atg p.V406M NM_001011880.2 NP_001011880.2 Q6UXF7 CL18B_HUMAN C-type lectin domain family 18, member B 406 C-type lectin. extracellular region sugar binding endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CTCAGCCACACCAGCCTGTGG 0.627000 4 38 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 38 0 0 1 0 0 MCUR1 63933 broad.mit.edu 37 6 13794127 13794127 + Splice_Site SNP A A G TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:13794127A>G ENST00000379170.4 - 7 1046 c.909_splice c.e7+1 p.L303_splice NM_001031713.3 NP_001026883.1 mitochondrial calcium uniporter regulator 1 GTTTCTTACCAATGCCACTAT 0.373000 11 31 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 5 132 0 0 1 0 0 UBXN6 80700 broad.mit.edu 37 19 4446365 4446365 + Missense_Mutation SNP C C A TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr19:4446365C>A ENST00000301281.6 - 9 1090 c.966G>T c.(964-966)atG>atT p.M322I UBXN6_ENST00000394765.3_Missense_Mutation_p.M269I NM_025241.2 NP_079517.1 Q9BZV1 UBXN6_HUMAN UBX domain protein 6 322 microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 CCTTCTCCCGCATGGCCTTGG 0.711000 3 6 6.4e-05 6.4e-05 1 1 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074470 76074470 + RNA SNP A A G TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr15:76074470A>G ENST00000395215.3 + 0 649 p.Q203R(4) CGGTTACAGCAGACCATAAAG 0.577000 6 43 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054178 71054178 + Missense_Mutation SNP T T C rs117718337 TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr16:71054178T>C ENST00000393567.2 - 22 3379 c.3229A>G c.(3229-3231)Ata>Gta p.I1077V HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1077 I -> V (in dbSNP:rs6416709). p.I1077V(3)|p.I1029V(3) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATGTTCTTTATGGCCAAGGGC 0.418000 3 39 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr6:157100396_157100397insCGC ENST00000346085.5 + 1 1334_1335 c.1333_1334insCGC c.(1333-1335)gcc>CGCgcc p.444_445insR ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 444 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P392_S393insP(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCCCCAGCGCGCCGCCGCCG 0.787 4 5 --- --- --- --- TPM2 7169 broad.mit.edu 37 9 35683161 35683161 + Frame_Shift_Del DEL G G - TCGA-WB-A81T-01A-11D-A35I-08 TCGA-WB-A81T-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 556c1156-ed29-43ee-a71e-53c24c51bed2 0c820458-5d04-4ba4-ba51-7a3e58fdd3fb g.chr9:35683161delG ENST00000360958.2 - 9 954 c.850delC c.(850-852)tcfs p.L284fs TPM2_ENST00000378292.3_Intron|TPM2_ENST00000329305.2_Intron|TPM2_ENST00000378300.5_Intron NM_003289.3 NP_003280.2 P07951 TPM2_HUMAN tropomyosin 2 (beta) 284 muscle filament sliding|regulation of ATPase activity cytosol|muscle thin filament tropomyosin actin binding|structural constituent of muscle NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_epithelial(49;0.121) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGGGCTCAGAGGGAGGTGATG 0.577 2 4 --- --- --- ---