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 ASB9 140462 broad.mit.edu 37 X 15267054 15267054 + Missense_Mutation SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chrX:15267054G>A ENST00000546332.1 - 7 1055 c.572C>T c.(571-573)gCg>gTg p.A191V ASB9_ENST00000380488.4_Missense_Mutation_p.A191V|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Missense_Mutation_p.A191V|ASB9_ENST00000380483.3_Missense_Mutation_p.A181V NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 191 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) GTTCACGTCCGCTCCTAAACA 0.532000 12 22 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17017717 17017717 + RNA SNP C C T rs12561804 by1000genomes TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:17017717C>T ENST00000492551.1 - 0 2010 NR_026567.1 GCTCACCTCTCTTCTTCCAGC 0.622000 9 24 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30680011 30680011 + Missense_Mutation SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr6:30680011C>T ENST00000376406.3 - 5 2355 c.1708G>A c.(1708-1710)Gcc>Acc p.A570T MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A570T NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 570 cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 AGAGGCCAGGCTTCCTCTAGA 0.507000 Other conserved DNA damage response genes 7 64 0 0 1 0 0 RPL34 6164 broad.mit.edu 37 4 109543293 109543293 + Missense_Mutation SNP T T G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr4:109543293T>G ENST00000394668.2 + 3 164 c.98T>G c.(97-99)cTt>cGt p.L33R RPL34_ENST00000394667.3_Missense_Mutation_p.L33R|RPL34_ENST00000394665.1_Missense_Mutation_p.L33R|RPL34_ENST00000502534.1_Missense_Mutation_p.L33R|RPL34_ENST00000506397.1_Missense_Mutation_p.L33R NM_033625.2 NP_296374.1 P49207 RL34_HUMAN ribosomal protein L34 33 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome kidney(2)|lung(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000286) ATTGTTTACCTTTATACCAAG 0.413000 5 74 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102303120 102303120 + RNA SNP C C G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr15:102303120C>G ENST00000561463.1 + 0 11166 CTTCTCAGAGCTGCTGTCCAA 0.592000 3 34 0 0 1 0 0 CSDE1 7812 broad.mit.edu 37 1 115272878 115272878 + Splice_Site SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:115272878C>T ENST00000438362.2 - 12 1873 c.e12+1 CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site NM_001242891.1 NP_001229820.1 O75534 CSDE1_HUMAN cold shock domain containing E1, RNA-binding male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 51 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-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) GCAAAACCTACCTTCTCTTTG 0.368000 10 71 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13441043 13441043 + Missense_Mutation SNP G G C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr11:13441043G>C ENST00000278174.5 - 4 793 c.548C>G c.(547-549)tCc>tGc p.S183C BTBD10_ENST00000530907.1_Missense_Mutation_p.S191C|BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Missense_Mutation_p.S135C NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 183 BTB. nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) AGTAAAAATGGATGGGTCTAC 0.338000 7 108 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 3 37 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30732974 30732974 + Nonsense_Mutation SNP G G T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr20:30732974G>T ENST00000217315.5 + 7 1022 c.682G>T c.(682-684)Gag>Tag p.E228* TM9SF4_ENST00000398022.2_Nonsense_Mutation_p.E245* Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 245 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCCACCAAGGAGAATCAGCT 0.557000 11 64 0.00829132 0.00852163 1 1 0 A2M 2 broad.mit.edu 37 12 9242536 9242536 + Missense_Mutation SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr12:9242536C>T ENST00000318602.7 - 21 2987 c.2680G>A c.(2680-2682)Gga>Aga p.G894R NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 894 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TCTTTCCTTCCGTGTTCAGGA 0.393000 11 65 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25932726 25932726 + Silent SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr17:25932726C>T ENST00000398988.3 + 16 1981 c.1536C>T c.(1534-1536)gaC>gaT p.D512D KSR1_ENST00000509603.2_Silent_p.D627D|KSR1_ENST00000268763.6_Silent_p.D512D|KSR1_ENST00000319524.6_Silent_p.D649D NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 647 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) ACAACCAGGACCACCTGAAGC 0.667000 11 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179418227 179418227 + Splice_Site SNP A A T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:179418227A>T ENST00000589042.1 - 334 89728 c.e334+1 TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAGGTACATACCAAGTATAT 0.343000 12 71 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188211041 188211041 + Missense_Mutation SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:188211041G>A ENST00000409998.1 - 16 2037 c.1256C>T c.(1255-1257)gCg>gTg p.A419V CALCRL_ENST00000410068.1_Missense_Mutation_p.A419V|CALCRL_ENST00000392370.3_Missense_Mutation_p.A419V|AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 419 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TGTGTAAGACGCACTACGAAG 0.373000 10 73 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58983066 58983066 + Missense_Mutation SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr19:58983066G>A ENST00000536459.2 + 4 1916 c.1207G>A c.(1207-1209)Ggt>Agt p.G403S ZNF324_ENST00000535298.1_Missense_Mutation_p.G180S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G403S O75467 Z324A_HUMAN zinc finger protein 324 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CGCGCTCTGCGGTGCTGCCTT 0.662000 3 54 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4920308 4920308 + Missense_Mutation SNP T T G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr16:4920308T>G ENST00000396658.4 + 8 1980 c.1277T>G c.(1276-1278)cTc>cGc p.L426R UBN1_ENST00000590769.1_Missense_Mutation_p.L426R|UBN1_ENST00000545171.1_Missense_Mutation_p.L426R|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.L426R NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 426 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GATGCCCTGCTCAAGCGTGCT 0.572000 6 41 0 0 1 0 0 PSD4 23550 broad.mit.edu 37 2 113940295 113940295 + Missense_Mutation SNP C C G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:113940295C>G ENST00000245796.6 + 2 457 c.262C>G c.(262-264)Cag>Gag p.Q88E PSD4_ENST00000441564.2_Missense_Mutation_p.Q88E|PSD4_ENST00000465917.1_3'UTR NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 88 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGAGCCTTGCCAGGAGCAAAC 0.637000 7 45 0 0 1 0 0 PTGS1 5742 broad.mit.edu 37 9 125140786 125140786 + Missense_Mutation SNP C C T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr9:125140786C>T ENST00000362012.2 + 4 291 c.286C>T c.(286-288)Cgc>Tgc p.R96C PTGS1_ENST00000540753.1_Missense_Mutation_p.R71C|PTGS1_ENST00000223423.4_Missense_Mutation_p.R96C|PTGS1_ENST00000373698.5_5'UTR NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 96 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CACTCACGGGCGCTGGTTCTG 0.632000 7 70 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 24 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56504748 56504748 + Silent SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr6:56504748G>A ENST00000370754.5 - 18 2498 c.2499C>T c.(2497-2499)ctC>ctT p.L833L DST_ENST00000370769.4_Silent_p.L655L|DST_ENST00000370788.2_Silent_p.L655L|DST_ENST00000446842.2_Silent_p.L329L|DST_ENST00000361203.3_Silent_p.L655L|DST_ENST00000370765.6_Silent_p.L329L|DST_ENST00000421834.2_Silent_p.L655L|DST_ENST00000312431.6_Silent_p.L655L|DST_ENST00000518935.1_Silent_p.L329L|DST_ENST00000244364.6_Silent_p.L329L Q03001 DYST_HUMAN dystonin 655 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAGCTTCTTTGAGACTAGATT 0.323000 23 104 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682737 100682737 + Missense_Mutation SNP C C A rs71286275 TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr7:100682737C>A ENST00000306151.4 + 3 8104 c.8040C>A c.(8038-8040)agC>agA p.S2680R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2680 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CTGAAGGTAGCAGCATGCCAA 0.488000 9 338 7.48243e-07 8.14264e-07 1 1 0 FRG1BP 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 6 152 0 0 1 0 0 IGHV1-45 28466 broad.mit.edu 37 14 106963220 106963220 + RNA SNP A A C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr14:106963220A>C ENST00000390621.2 - 0 119 CACCAGCTGCATCTGGGAGTA 0.567000 12 85 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112176079 112176079 + Missense_Mutation SNP G G C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr5:112176079G>C ENST00000457016.1 + 16 5168 c.4788G>C c.(4786-4788)caG>caC p.Q1596H APC_ENST00000257430.4_Missense_Mutation_p.Q1596H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.Q1596H P25054 APC_HUMAN adenomatous polyposis coli 1596 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.K1192fs*3(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGCCAGCCCAGACTGCTTCAA 0.403000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 28 130 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160920865 160920865 + Missense_Mutation SNP A A T rs141731306 TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:160920865A>T ENST00000368029.3 - 4 466 c.409T>A c.(409-411)Tct>Act p.S137T NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 137 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) GCCTCTGCAGATCCAAAGGTG 0.597000 13 97 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1723958 1723958 + Missense_Mutation SNP A A G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr16:1723958A>G ENST00000397412.3 + 21 3821 c.3722A>G c.(3721-3723)cAa>cGa p.Q1241R CRAMP1L_ENST00000262317.4_Missense_Mutation_p.Q616R|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.Q1241R|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.Q1238R Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1241 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GACCTGGCCCAAGAGCTGTCC 0.562000 10 65 0 0 1 0 0 ALDH2 217 broad.mit.edu 37 12 112223106 112223106 + Nonsense_Mutation SNP C C A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr12:112223106C>A ENST00000546840.2 + 5 386 c.386C>A c.(385-387)tCa>tAa p.S129* ALDH2_ENST00000416293.3_Silent_p.V85V|ALDH2_ENST00000261733.2_Silent_p.V132V AGCCCTATGTCATCTCCTACC 0.517000 16 91 8.00594e-06 8.46342e-06 1 1 0 ALS2 57679 broad.mit.edu 37 2 202606482 202606482 + Silent SNP A A G TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr2:202606482A>G ENST00000264276.6 - 11 2638 c.2266T>C c.(2266-2268)Ttg>Ctg p.L756L ALS2_ENST00000457679.2_Silent_p.L68L NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 756 DH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 AAGCTGCTCAATGAGGCTCCA 0.473000 5 35 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11514012 11514012 + Missense_Mutation SNP G G C TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr7:11514012G>C ENST00000423059.3 - 8 2452 c.2201C>G c.(2200-2202)aCa>aGa p.T734R AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 734 TSP type-1 7. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GACTTTTCTTGTCTGCATGCC 0.512000 HNSCC(18;0.044) 3 62 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150768535 150768535 + Silent SNP G G A TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr7:150768535G>A ENST00000485713.1 + 14 3074 c.2034G>A c.(2032-2034)acG>acA p.T678T SLC4A2_ENST00000392826.2_Silent_p.T669T|SLC4A2_ENST00000413384.2_Silent_p.T678T|SLC4A2_ENST00000461735.1_Silent_p.T664T|SLC4A2_ENST00000310317.5_Silent_p.T596T NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 678 AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 6; CAA27556). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCGGCGGACGGGGCGGCCCT 0.677000 7 16 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152127903 152127903 + Frame_Shift_Del DEL G G - TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:152127903delG ENST00000316073.3 - 3 1736 c.1672delC c.(1672-1674)acfs p.H558fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 558 Gln-rich. proteinaceous extracellular matrix calcium ion binding p.H558D(1) breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGACCGTAGTGGGAACTCTGG 0.507 7 810 --- --- --- --- ASH1L 55870 broad.mit.edu 37 1 155340331 155340340 + Frame_Shift_Del DEL TTGATGAATC TTGATGAATC - TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr1:155340331_155340340delTTGATGAATC ENST00000368346.3 - 12 7295_7304 c.6656_6665delGATTCATCAA c.(6655-6666)ccfs p.RFIN2219fs ASH1L_ENST00000392403.3_Frame_Shift_Del_p.RFIN2214fs Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2219 SET. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ACAGCTATGGTTGATGAATCGGGCCTCATT 0.448 15 203 --- --- --- --- CCR4 1233 broad.mit.edu 37 3 32995645 32995659 + In_Frame_Del DEL TCTTTGCCGTGGTGG TCTTTGCCGTGGTGG - rs147951720 byFrequency TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr3:32995645_32995659delTCTTTGCCGTGGTGG ENST00000330953.5 + 2 899_913 c.731_745delTCTTTGCCGTGGTGG c.(730-747)atc>a p.IFAVVV244del NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 244 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 GTGAAGATGATCTTTGCCGTGGTGGTCCTCTTCCT 0.470 17 23 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085901 11085903 + RNA DEL CAT CAT - rs28477888 TCGA-S7-A7WT-01A-12D-A35I-08 TCGA-S7-A7WT-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 104e94c6-55c9-4957-b1ae-9a592158d0e3 a6647b15-29af-4228-bc47-202916482c4d g.chr21:11085901_11085903delCAT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccaccaccatcaccaccatc 0.567 2 4 --- --- --- ---