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 DMP1 1758 broad.mit.edu 37 4 88584444 88584444 + Missense_Mutation SNP A A T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr4:88584444A>T ENST00000339673.6 + 6 1613 c.1514A>T c.(1513-1515)gAt>gTt p.D505V RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D489V|RP11-742B18.1_ENST00000507894.1_RNA NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 505 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) GGGGACCAAGATGACAATGAC 0.413000 56 88 0 0 0.870114 0 0 MS4A12 54860 broad.mit.edu 37 11 60274284 60274284 + Silent SNP C C G TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr11:60274284C>G ENST00000016913.4 + 6 729 c.672C>G c.(670-672)gcC>gcG p.A224A MS4A12_ENST00000537076.1_Silent_p.A178A NM_017716.2 NP_060186.2 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 12 224 integral to membrane receptor activity breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2) 17 CCCATTTTGCCAACCAAGCAA 0.418000 11 39 0 0 0.435327 0 0 TMEM38B 55151 broad.mit.edu 37 9 108483839 108483839 + Silent SNP G G A rs141978983 TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr9:108483839G>A ENST00000374688.1 + 3 839 c.129G>A c.(127-129)ccG>ccA p.P43P TMEM38B_ENST00000374692.3_Silent_p.P97P Q9NVV0 TM38B_HUMAN transmembrane protein 38B 97 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 TTTTTTGCCCGCATGACCTAG 0.353000 3 38 0 0 0.115264 0 0 TMEM101 84336 broad.mit.edu 37 17 42090386 42090386 + Silent SNP G G T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr17:42090386G>T ENST00000589334.1 - 4 771 c.456C>A c.(454-456)ctC>ctA p.L152L TMEM101_ENST00000587529.1_Silent_p.L152L|TMEM101_ENST00000206380.3_Silent_p.L152L|TMEM101_ENST00000542039.1_Silent_p.L94L Q96IK0 TM101_HUMAN transmembrane protein 101 152 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) CCACACAGATGAGGTAGATAC 0.597000 3 29 0.004672 0.00500571 0.115264 1 0 MBD6 0 broad.mit.edu 37 12 57919484 57919484 + Missense_Mutation SNP C C T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr12:57919484C>T ENST00000355673.3 + 6 1089 c.733C>T c.(733-735)Cct>Tct p.P245S MBD6_ENST00000431731.2_Missense_Mutation_p.P245S NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 245 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CCTGGGCTCTCCTCCGGCCCC 0.612000 4 226 0 0 0.150653 0 0 INHBC 3626 broad.mit.edu 37 12 57843479 57843479 + Missense_Mutation SNP A A G TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr12:57843479A>G ENST00000309668.2 + 2 860 c.733A>G c.(733-735)Agg>Ggg p.R245G INHBC_ENST00000550133.1_Intron NM_005538.2 NP_005529.1 P55103 INHBC_HUMAN inhibin, beta C 245 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 AGGAGGGTCCAGGATGTGCTG 0.577000 19 48 0 0 0.557998 0 0 FLG2 388698 broad.mit.edu 37 1 152328852 152328852 + Silent SNP C C T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr1:152328852C>T ENST00000388718.5 - 3 1482 c.1410G>A c.(1408-1410)ggG>ggA p.G470G FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 470 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGCTAGACCCATGCTGGT 0.522000 6 145 0 0 0.248553 0 0 CHEK2 11200 broad.mit.edu 37 22 29091784 29091784 + Missense_Mutation SNP C C A TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr22:29091784C>A ENST00000544772.1 - 12 1946 c.510G>T c.(508-510)ttG>ttT p.L170F CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.L391F|CHEK2_ENST00000382578.1_Missense_Mutation_p.L300F|CHEK2_ENST00000403642.1_Missense_Mutation_p.L300F|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.L391F|CHEK2_ENST00000328354.6_Missense_Mutation_p.L391F|CHEK2_ENST00000348295.3_Missense_Mutation_p.L362F|CHEK2_ENST00000402731.1_Missense_Mutation_p.L362F|CHEK2_ENST00000382580.2_Missense_Mutation_p.L434F NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 391 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CTTCAGGCGCCAAGTAGGTGG 0.423000 F breast Direct reversal of damage;Other conserved DNA damage response genes 26 14 4.87955e-14 5.85547e-14 0.693898 1 0 ITGA10 8515 broad.mit.edu 37 1 145534935 145534935 + Missense_Mutation SNP G G A TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr1:145534935G>A ENST00000369304.3 + 15 2013 c.1838G>A c.(1837-1839)cGa>cAa p.R613Q ITGA10_ENST00000538811.1_Missense_Mutation_p.R482Q|ITGA10_ENST00000539363.1_Missense_Mutation_p.R470Q NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 613 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.R613Q(1) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TACTTTGGCCGAAGTGTGGAT 0.577000 33 73 0 0 0.769981 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 106 0 0 0.870114 0 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 129 0 0 0.150653 0 0 INTS4L1 0 broad.mit.edu 37 7 64639752 64639752 + RNA SNP A A T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr7:64639752A>T ENST00000587624.1 + 0 635 TTGATTTCCTAGTTGACATGT 0.443000 4 20 0 0 0.307466 0 0 C1orf112 55732 broad.mit.edu 37 1 169811624 169811624 + Nonsense_Mutation SNP C C T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr1:169811624C>T ENST00000286031.6 + 18 2492 c.1792C>T c.(1792-1794)Caa>Taa p.Q598* C1orf112_ENST00000359326.4_Nonsense_Mutation_p.Q598*|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 598 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TACAGGAAAACAAACTGCAAT 0.368000 26 59 0 0 0.667858 0 0 ICAM3 3385 broad.mit.edu 37 19 10449575 10449575 + Silent SNP C C T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr19:10449575C>T ENST00000160262.5 - 2 334 c.126G>A c.(124-126)gtG>gtA p.V42V ICAM3_ENST00000589261.1_5'UTR NM_002162.3 NP_002153.2 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 42 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CAGCAGAGAGCACAGGGTTCT 0.552000 22 37 0 0 0.624587 0 0 C6orf211 79624 broad.mit.edu 37 6 151779565 151779565 + Missense_Mutation SNP G G C TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr6:151779565G>C ENST00000367294.3 + 3 509 c.250G>C c.(250-252)Gat>Cat p.D84H C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR NM_024573.1 NP_078849.1 Q9H993 CF211_HUMAN chromosome 6 open reading frame 211 84 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7) 15 BRCA - Breast invasive adenocarcinoma(37;0.183) OV - Ovarian serous cystadenocarcinoma(155;5.27e-11) GAAATTTGTTGATACTGATAT 0.363000 29 50 0 0 0.729181 0 0 THBS2 7058 broad.mit.edu 37 6 169637364 169637364 + Missense_Mutation SNP G G A TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr6:169637364G>A ENST00000366787.3 - 10 1627 c.1378C>T c.(1378-1380)Cgc>Tgc p.R460C XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 460 TSP type-1 2. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AGACGGATGCGTGTGATATTG 0.607000 23 25 0 0 0.608945 0 0 HTR3A 3359 broad.mit.edu 37 11 113853948 113853948 + Missense_Mutation SNP A A G TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr11:113853948A>G ENST00000504030.2 + 5 926 c.481A>G c.(481-483)Atc>Gtc p.I161V HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000299961.5_Missense_Mutation_p.I146V|HTR3A_ENST00000355556.2_Missense_Mutation_p.I167V|HTR3A_ENST00000375498.2_Missense_Mutation_p.I167V|HTR3A_ENST00000506841.2_Missense_Mutation_p.I161V P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic 161 digestion|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 36 all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191) Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199) TAGCCTCGACATCTACAACTT 0.547000 9 142 0 0 0.307466 0 0 NOMO1 23420 broad.mit.edu 37 16 14958553 14958553 + Missense_Mutation SNP G G T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr16:14958553G>T ENST00000287667.7 + 13 1678 c.1507G>T c.(1507-1509)Gca>Tca p.A503S NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 503 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 ACAGTTCTTGGCATCAGTTTC 0.468000 63 151 1.49723e-40 1.87154e-40 0.870114 1 0 PPCS 79717 broad.mit.edu 37 1 42925432 42925432 + Silent SNP T T C TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr1:42925432T>C ENST00000372561.3 + 3 778 c.771T>C c.(769-771)gcT>gcC p.A257A PPCS_ENST00000372562.1_Silent_p.A84A|PPCS_ENST00000455780.1_Silent_p.A84A|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000472013.1_3'UTR NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 257 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGGTGGTGGCTAATATCCTTG 0.398000 3 137 0 0 0.115264 0 0 CDH11 1009 broad.mit.edu 37 16 65016141 65016141 + Missense_Mutation SNP C C A TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr16:65016141C>A ENST00000394156.3 - 8 1516 c.1063G>T c.(1063-1065)Gac>Tac p.D355Y CDH11_ENST00000566827.1_Missense_Mutation_p.D229Y|CDH11_ENST00000268603.4_Missense_Mutation_p.D355Y P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 355 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) AACTTCGGGTCGATGTGCACG 0.468000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 29 47 9.39395e-14 1.08392e-13 0.706142 1 0 PTPN2 5771 broad.mit.edu 37 18 12817199 12817199 + Missense_Mutation SNP C C A TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr18:12817199C>A ENST00000309660.5 - 6 754 c.661G>T c.(661-663)Ggg>Tgg p.G221W PTPN2_ENST00000591497.1_Missense_Mutation_p.G192W|PTPN2_ENST00000591115.1_Missense_Mutation_p.G244W|PTPN2_ENST00000353319.4_Missense_Mutation_p.G221W|PTPN2_ENST00000327283.3_Missense_Mutation_p.G221W NM_002828.3 NP_002819.2 P17706 PTN2_HUMAN protein tyrosine phosphatase, non-receptor type 2 221 Substrate binding (By similarity).|Tyrosine-protein phosphatase. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway endoplasmic reticulum|nucleoplasm protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3) 13 Lung NSC(161;8.94e-06) CCAGAGCGCCCAATGCCTGCA 0.423000 4 115 0.150653 0.155848 0.150653 1 0 C16orf91 283951 broad.mit.edu 37 16 1470345 1470345 + Missense_Mutation SNP C C T TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr16:1470345C>T ENST00000310355.1 - 4 771 c.772G>A c.(772-774)Gcg>Acg p.A258T C16orf91_ENST00000563974.1_Missense_Mutation_p.A34T|C16orf91_ENST00000442039.2_Missense_Mutation_p.A101T Q4G0I0 CSMT1_HUMAN chromosome 16 open reading frame 91 101 integral to membrane breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CACTGGTCCGCCTCGCTCTCC 0.617000 41 73 0 0 0.864702 0 0 OR6F1 343169 broad.mit.edu 37 1 247875916 247875916 + Silent SNP A A G TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr1:247875916A>G ENST00000302084.2 - 1 189 c.142T>C c.(142-144)Ttg>Ctg p.L48L RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GTGCTCACCAACATCAAGATA 0.473000 9 113 0 0 0.307466 0 0 DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-DJ-A1QG-01A-11D-A14W-08 TCGA-DJ-A1QG-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6423bb49-a2d1-4c64-9da3-21d387df5510 1de19931-dbc5-4464-9c0c-3cc08cbd4846 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 2 4 --- --- --- ---