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 ARHGEF26 26084 broad.mit.edu 37 3 153840317 153840317 + Missense_Mutation SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr3:153840317C>T ENST00000356448.4 + 2 820 c.536C>T c.(535-537)gCc>gTc p.A179V ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A179V|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A179V NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 179 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 AATGGCCTTGCCGCTAATAAC 0.652000 3 36 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 27 0 0 1 0 0 MS4A13 503497 broad.mit.edu 37 11 60285574 60285574 + Silent SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr11:60285574C>T ENST00000378186.2 + 3 341 c.18C>T c.(16-18)caC>caT p.H6H MS4A13_ENST00000437058.2_Silent_p.H6H|MS4A13_ENST00000378185.2_Silent_p.H6H|MS4A13_ENST00000527948.1_Silent_p.H6H NM_001012417.2 NP_001012417.2 Q5J8X5 M4A13_HUMAN membrane-spanning 4-domains, subfamily A, member 13 6 integral to membrane endometrium(3)|large_intestine(1)|lung(2)|skin(2) 8 GCATCTTTCACATTTTCATGT 0.313000 9 37 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99672880 99672880 + Missense_Mutation SNP G G C TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr15:99672880G>C ENST00000336292.6 + 5 4432 c.4312G>C c.(4312-4314)Ggc>Cgc p.G1438R SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1439 Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CCCTGAGCTAGGCAAGTTAGC 0.512000 4 157 0 0 1 0 0 ANO1 55107 broad.mit.edu 37 11 70009403 70009403 + Missense_Mutation SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr11:70009403C>T ENST00000355303.5 + 19 2212 c.1907C>T c.(1906-1908)cCg>cTg p.P636L ANO1_ENST00000316296.5_Missense_Mutation_p.P578L|ANO1_ENST00000538023.1_Missense_Mutation_p.P636L|ANO1_ENST00000530676.1_Missense_Mutation_p.P490L|ANO1_ENST00000398543.2_Missense_Mutation_p.P490L|ANO1_ENST00000531349.1_Missense_Mutation_p.P345L NM_018043.5 NP_060513.5 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 636 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GTTGGACGCCCGGGCGACTAC 0.532000 15 48 0 0 1 0 0 UGT1A7 0 broad.mit.edu 37 2 234591304 234591304 + Missense_Mutation SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr2:234591304G>A ENST00000373426.3 + 1 721 c.721G>A c.(721-723)Gca>Aca p.A241T UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCCTGTCACGGCATATGATCT 0.413000 5 309 0 0 1 0 0 NUMA1 0 broad.mit.edu 37 11 71727189 71727189 + Missense_Mutation SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr11:71727189G>A ENST00000393695.3 - 15 1691 c.1360C>T c.(1360-1362)Cgg>Tgg p.R454W RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.R454W|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 454 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 AAGTGGCCCCGCTCAGCAAGC 0.577000 T RARA APL OREG0021187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 87 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 55 0 0 1 0 0 ATG10 83734 broad.mit.edu 37 5 81548458 81548458 + Silent SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr5:81548458G>A ENST00000282185.3 + 6 825 c.531G>A c.(529-531)aaG>aaA p.K177K ATG10_ENST00000514253.2_Intron|ATG10_ENST00000513634.1_Silent_p.K177K|ATG10_ENST00000458350.3_Silent_p.K177K NM_031482.4 NP_113670.1 Q9H0Y0 ATG10_HUMAN autophagy related 10 177 autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport cytoplasm Atg12 ligase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2) 9 Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30) CTGTATTAAAGAATTCTCAGA 0.343000 4 55 0 0 1 0 0 JHDM1D 0 broad.mit.edu 37 7 139810907 139810907 + Missense_Mutation SNP A A C TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr7:139810907A>C ENST00000397560.2 - 11 1513 c.1416T>G c.(1414-1416)atT>atG p.I472M JHDM1D_ENST00000006967.5_Missense_Mutation_p.I472M NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 472 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CTATTGCTCGAATTACTTTAG 0.323000 3 53 0 0 1 0 0 FYN 2534 broad.mit.edu 37 6 111995769 111995769 + Missense_Mutation SNP C C A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr6:111995769C>A ENST00000354650.3 - 13 1944 c.1338G>T c.(1336-1338)aaG>aaT p.K446N FYN_ENST00000538466.1_Missense_Mutation_p.K443N|FYN_ENST00000368678.4_Missense_Mutation_p.K443N|FYN_ENST00000229470.5_Missense_Mutation_p.K394N|FYN_ENST00000368682.3_Missense_Mutation_p.K443N|FYN_ENST00000229471.4_Missense_Mutation_p.K391N|FYN_ENST00000368667.2_Missense_Mutation_p.K446N|FYN_ENST00000356013.2_Missense_Mutation_p.K391N NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 446 Protein kinase. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ACACGTCAGACTTGATTGTGA 0.537000 12 107 6.40141e-05 7.06363e-05 1 1 0 AXDND1 126859 broad.mit.edu 37 1 179380298 179380298 + Missense_Mutation SNP A A G TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr1:179380298A>G ENST00000367618.3 + 12 1514 c.1127A>G c.(1126-1128)cAt>cGt p.H376R AXDND1_ENST00000457238.2_Missense_Mutation_p.H376R|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 376 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GAAGAATATCATGACTTATAT 0.279000 4 57 0 0 1 0 0 ZNF699 374879 broad.mit.edu 37 19 9407214 9407214 + Missense_Mutation SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr19:9407214C>T ENST00000591998.1 - 6 1094 c.866G>A c.(865-867)aGt>aAt p.S289N ZNF699_ENST00000308650.3_Missense_Mutation_p.S289N Q32M78 ZN699_HUMAN zinc finger protein 699 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGAGGAACAACTAAAACCTTT 0.413000 10 62 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63824850 63824850 + Silent SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr15:63824850C>T ENST00000268049.7 + 3 354 c.30C>T c.(28-30)tgC>tgT p.C10C USP3_ENST00000536001.1_Silent_p.C32C|USP3_ENST00000539772.1_Intron|USP3_ENST00000380324.3_Silent_p.C32C|USP3_ENST00000540797.1_Silent_p.C32C|USP3_ENST00000558285.1_Silent_p.C15C Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 32 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) TATTAGTGTGCCGGTCCAACA 0.363000 4 116 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186545479 186545479 + Silent SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr4:186545479G>A ENST00000431808.1 - 14 1655 c.1092C>T c.(1090-1092)aaC>aaT p.N364N SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000319471.9_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 364 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGATTTCTGCGTTTTGCCGGG 0.517000 32 58 0 0 1 0 0 LPPR4 0 broad.mit.edu 37 1 99772424 99772424 + Missense_Mutation SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr1:99772424C>T ENST00000370185.3 + 7 2647 c.2150C>T c.(2149-2151)aCg>aTg p.T717M LPPR4_ENST00000370184.1_Missense_Mutation_p.T559M|LPPR4_ENST00000457765.1_Missense_Mutation_p.T659M NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 717 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GGCTCAGAGACGCTGTCCATT 0.502000 17 27 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 54 0 0 1 0 0 GPR19 2842 broad.mit.edu 37 12 12814629 12814629 + Missense_Mutation SNP T T C TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr12:12814629T>C ENST00000540510.1 - 2 946 c.754A>G c.(754-756)Aga>Gga p.R252G GPR19_ENST00000332427.2_Missense_Mutation_p.R252G Q15760 GPR19_HUMAN G protein-coupled receptor 19 252 integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) GTGCCTATTCTCCAAATATAT 0.403000 3 44 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63554356 63554356 + Missense_Mutation SNP A A G TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr17:63554356A>G ENST00000307078.5 - 2 696 c.383T>C c.(382-384)tTa>tCa p.L128S AXIN2_ENST00000375702.5_Missense_Mutation_p.L128S|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 128 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GGCTACTCGTAAAGTTTTGGT 0.463000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 5 144 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149915370 149915370 + Missense_Mutation SNP C C T rs150009231 TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr5:149915370C>T ENST00000261797.6 + 6 1862 c.1360C>T c.(1360-1362)Cgc>Tgc p.R454C NDST1_ENST00000523767.1_Missense_Mutation_p.R454C NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 454 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGGAGCATCCGCGTGACCAG 0.642000 8 14 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49094842 49094842 + Missense_Mutation SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr3:49094842G>A ENST00000395443.2 - 3 1263 c.791C>T c.(790-792)cCg>cTg p.P264L QRICH1_ENST00000424300.1_Missense_Mutation_p.P264L|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.P264L NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 264 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGTGGCCACCGGCTGCCCTGA 0.602000 14 31 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42249395 42249395 + Silent SNP G G C TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr13:42249395G>C ENST00000379310.3 - 36 4433 c.4365C>G c.(4363-4365)gtC>gtG p.V1455V NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 GAAGATCAGTGACTTCTATAT 0.343000 4 33 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 3 59 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170134406 170134406 + Missense_Mutation SNP C C T TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr2:170134406C>T ENST00000263816.3 - 13 1906 c.1621G>A c.(1621-1623)Gca>Aca p.A541T LRP2_ENST00000443831.1_Intron NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 541 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCCATGAATGCCCTTTCCAGC 0.423000 4 108 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73478019 73478019 + Missense_Mutation SNP C C A TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr7:73478019C>A ENST00000252034.7 + 29 2386 c.1987C>A c.(1987-1989)Ctt>Att p.L663I ELN_ENST00000320492.7_Missense_Mutation_p.L582I|ELN_ENST00000380584.4_Missense_Mutation_p.L615I|ELN_ENST00000358929.4_Missense_Mutation_p.L731I|ELN_ENST00000380575.4_Missense_Mutation_p.L634I|ELN_ENST00000380562.4_Missense_Mutation_p.L669I|ELN_ENST00000445912.1_Missense_Mutation_p.L663I|ELN_ENST00000429192.1_Missense_Mutation_p.L649I|ELN_ENST00000458204.1_Missense_Mutation_p.L653I|ELN_ENST00000357036.5_Missense_Mutation_p.L668I|ELN_ENST00000320399.6_Missense_Mutation_p.L696I|ELN_ENST00000380576.5_Missense_Mutation_p.L644I|ELN_ENST00000380553.4_Missense_Mutation_p.L527I|ELN_ENST00000414324.1_Missense_Mutation_p.L639I NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 725 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGTTGGGGGCCTTGGAGGTGA 0.572000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 4 84 0.150653 0.155513 1 1 0 HLA-V 0 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 2 4 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 8 232 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 4 8 --- --- --- --- CSPG4P5 0 broad.mit.edu 37 15 84957480 84957499 + RNA DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA ENST00000558801.1 - 0 7230_7249 TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT 0.586 4 3 --- --- --- --- AC005176.2 0 broad.mit.edu 37 19 40131120 40131120 + RNA DEL C C - TCGA-EJ-AB20-01A-12D-A41K-08 TCGA-EJ-AB20-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42430570-8b50-44a2-88bc-57b1aab9fad7 aad0c72f-096f-4d7b-8cf7-46c5ab0939d5 g.chr19:40131120delC ENST00000594263.1 + 0 1291 NR_026870.1 TCAGCAATGACCCAGAGCTGC 0.522 2 4 --- --- --- ---