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 FDXR 2232 broad.mit.edu 37 17 72862631 72862631 + Silent SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr17:72862631G>A ENST00000455107.2 - 5 614 c.198C>T c.(196-198)aaC>aaT p.N66N FDXR_ENST00000544854.1_Silent_p.N58N|FDXR_ENST00000442102.2_Silent_p.N153N|FDXR_ENST00000293195.5_Silent_p.N110N|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000581530.1_Silent_p.N110N|FDXR_ENST00000583917.1_Silent_p.N111N|FDXR_ENST00000413947.2_Silent_p.N141N|FDXR_ENST00000582944.1_Silent_p.N102N P22570 ADRO_HUMAN ferredoxin reductase 110 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CCACCTCCACGTTGCCCCAGA 0.652000 12 33 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203677 140203677 + Missense_Mutation SNP C C G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr5:140203677C>G ENST00000529859.1 + 1 2317 c.2317C>G c.(2317-2319)Cca>Gca p.P773A PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P773A|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P773A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCTTCAGTCCAAGCCTTCC 0.507000 13 52 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671564 45671564 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr11:45671564C>T ENST00000308064.2 - 4 1580 c.910G>A c.(910-912)Gac>Aac p.D304N NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 304 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGAGCCAGGTCCTCGTAGCGC 0.632000 41 113 0 0 1 0 0 PPAP2A 8611 broad.mit.edu 37 5 54771207 54771207 + Missense_Mutation SNP A A G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr5:54771207A>G ENST00000307259.8 - 2 550 c.130T>C c.(130-132)Tcc>Ccc p.S44P PPAP2A_ENST00000264775.5_Intron|PPAP2A_ENST00000515132.1_Intron NM_003711.2 NP_003702.2 O14494 LPP1_HUMAN phosphatidic acid phosphatase type 2A 44 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process integral to plasma membrane|membrane fraction phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 9 Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544) TACTTGATGGACTCATCATTA 0.368000 5 20 0 0 1 0 0 RABL5 64792 broad.mit.edu 37 7 100962287 100962287 + Silent SNP A A G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr7:100962287A>G ENST00000315322.4 - 2 159 c.66T>C c.(64-66)ttT>ttC p.F22F RABL5_ENST00000495166.1_Intron|RABL5_ENST00000437644.2_Silent_p.F22F|RABL5_ENST00000517481.1_5'UTR|RABL5_ENST00000498704.2_Intron NM_022777.2 NP_073614.1 Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 22 GTP binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.215) ATTCTGTCAGAAAGTTGGCCA 0.463000 17 50 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44219921 44219921 + Missense_Mutation SNP A A G rs139414975 TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:44219921A>G ENST00000371554.1 + 10 1862 c.1648A>G c.(1648-1650)Aag>Gag p.K550E HSP90AB1_ENST00000353801.3_Missense_Mutation_p.K550E|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.K550E P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 550 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TGAGGAGGAGAAGAAGAAGAT 0.483000 12 32 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75838065 75838065 + Missense_Mutation SNP A A G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:75838065A>G ENST00000322507.8 - 38 6596 c.6287T>C c.(6286-6288)aTt>aCt p.I2096T COL12A1_ENST00000483888.2_Missense_Mutation_p.I2096T|COL12A1_ENST00000416123.2_Missense_Mutation_p.I2096T|COL12A1_ENST00000345356.6_Missense_Mutation_p.I932T NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2096 Fibronectin type-III 16. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ATAAACAGCAATAACAGTAAT 0.378000 14 20 0 0 1 0 0 EIF2A 83939 broad.mit.edu 37 3 150285753 150285753 + Missense_Mutation SNP A A C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr3:150285753A>C ENST00000460851.1 + 8 723 c.614A>C c.(613-615)aAc>aCc p.N205T EIF2A_ENST00000383043.3_Intron|EIF2A_ENST00000406576.3_Missense_Mutation_p.N144T|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.N200T|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Missense_Mutation_p.N180T Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 205 regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CAGTACCCCAACTTTGCTGGA 0.323000 5 29 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7594575 7594575 + Missense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr19:7594575G>A ENST00000264079.6 + 11 1461 c.1336G>A c.(1336-1338)Gtg>Atg p.V446M NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 446 V -> L (in MLIV; does not affect channel activity; affects channel inhibition by low pH). calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TGGCTGGATCGTGCTGGGGCC 0.582000 48 136 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117809951 117809951 + Missense_Mutation SNP A A T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chrX:117809951A>T ENST00000276204.6 + 47 5326 c.5252A>T c.(5251-5253)gAa>gTa p.E1751V DOCK11_ENST00000276202.7_Missense_Mutation_p.E1751V Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1751 DHR-2. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAAATTCTGGAAGTTATGCAT 0.294000 3 13 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2115837 2115837 + Missense_Mutation SNP G G T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr9:2115837G>T ENST00000382203.1 + 25 3681 c.3472G>T c.(3472-3474)Gac>Tac p.D1158Y SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1158Y|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1158Y|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1158Y P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1158 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GCAGGCCCAAGACCGAGCTCA 0.572000 4 8 0.00909568 0.00919674 1 1 0 SLC47A1 55244 broad.mit.edu 37 17 19470499 19470499 + Missense_Mutation SNP A A T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr17:19470499A>T ENST00000270570.4 + 14 1353 c.1267A>T c.(1267-1269)Atc>Ttc p.I423F SLC47A1_ENST00000436810.2_Missense_Mutation_p.I400F|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Missense_Mutation_p.I423F|SLC47A1_ENST00000571335.1_Missense_Mutation_p.I228F|SLC47A1_ENST00000457293.1_Missense_Mutation_p.I423F NM_018242.2 NP_060712.2 Q96FL8 S47A1_HUMAN solute carrier family 47 (multidrug and toxin extrusion), member 1 423 integral to membrane|plasma membrane drug:hydrogen antiporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) TGGCCTCCCCATCGGGATCGC 0.552000 39 171 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898840 130898840 + Nonsense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr12:130898840G>A ENST00000261655.4 - 14 2645 c.2482C>T c.(2482-2484)Cga>Tga p.R828* NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 828 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) AGGCGGTCTCGCCCGTAATCG 0.567000 24 76 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43821544 43821544 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr15:43821544C>T ENST00000382031.1 + 5 8618 c.8587C>T c.(8587-8589)Cgg>Tgg p.R2863W MAP1A_ENST00000300231.5_Missense_Mutation_p.R2625W|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2625W P78559 MAP1A_HUMAN microtubule-associated protein 1A 2625 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCTGGATCTTCGGGGAAAACG 0.652000 30 69 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55360339 55360339 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr16:55360339C>T ENST00000290552.7 + 2 1469 c.137C>T c.(136-138)gCt>gTt p.A46V RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 46 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCAGCGCCCGCTCTCTGCTGC 0.637000 17 56 0 0 1 0 0 LCA5L 150082 broad.mit.edu 37 21 40795120 40795120 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr21:40795120C>T ENST00000358268.2 - 5 1147 c.619G>A c.(619-621)Gta>Ata p.V207I LCA5L_ENST00000485895.2_Missense_Mutation_p.V207I|LCA5L_ENST00000380671.2_Missense_Mutation_p.V207I|LCA5L_ENST00000288350.3_Missense_Mutation_p.V207I O95447 LCA5L_HUMAN Leber congenital amaurosis 5-like 207 breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 24 Prostate(19;1.2e-06) AAATTTTTTACTTCATTCTGA 0.323000 3 25 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 86 0 0 1 0 0 RAB6C-AS1 100131320 broad.mit.edu 37 2 130725780 130725780 + RNA SNP C C A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:130725780C>A ENST00000412425.1 - 0 838 NR_036537.1 CAAACACACACAAAAAAGATG 0.423000 5 21 1.23904e-05 1.29601e-05 1 1 0 DOCK8 81704 broad.mit.edu 37 9 379811 379811 + Silent SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr9:379811C>T ENST00000432829.2 + 21 2593 c.2277C>T c.(2275-2277)atC>atT p.I759I DOCK8_ENST00000382331.1_Silent_p.I129I|DOCK8_ENST00000382329.1_Silent_p.I294I|DOCK8_ENST00000453981.1_Silent_p.I827I|DOCK8_ENST00000469391.1_Silent_p.I759I NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 827 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGGTGGCCATCGCCAACAGTC 0.577000 8 34 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225339003 225339003 + Nonsense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:225339003G>A ENST00000264414.4 - 16 2604 c.2266C>T c.(2266-2268)Cga>Tga p.R756* CUL3_ENST00000344951.4_Nonsense_Mutation_p.R690*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.R732*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.R732* NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 756 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAGGTGTTCGTGCCAAATAT 0.383000 3 24 0 0 1 0 0 ACTC1 70 broad.mit.edu 37 15 35086889 35086889 + Missense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr15:35086889G>A ENST00000290378.4 - 2 776 c.121C>T c.(121-123)Cgg>Tgg p.R41W RP11-814P5.1_ENST00000503496.1_RNA NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 41 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding p.R41W(1) central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) ACCTGGTGCCGCGGGCGGCCC 0.672000 26 53 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77043679 77043679 + Missense_Mutation SNP G G C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr17:77043679G>C ENST00000339142.2 + 5 910 c.355G>C c.(355-357)Gca>Cca p.A119P C1QTNF1_ENST00000578229.1_Missense_Mutation_p.A37P|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.A37P|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.A129P|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.A119P|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.A119P|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.A119P|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.A119P|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.A119P|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.A119P NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 119 Collagen-like. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) AACAGGCTCAGCAGGGGCCAG 0.622000 24 98 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3673432 3673432 + Missense_Mutation SNP A A T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:3673432A>T ENST00000294600.2 + 4 773 c.689A>T c.(688-690)tAc>tTc p.Y230F NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 230 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ATGCCCTGGTACCTCTCAGTC 0.602000 8 20 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328069 57328069 + Missense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr19:57328069G>A ENST00000326441.9 - 10 2104 c.1741C>T c.(1741-1743)Cac>Tac p.H581Y ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H455Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H457Y|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H581Y NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 581 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) ATTTTCTGGTGCTCAATCAGG 0.483000 15 30 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77624226 77624226 + Missense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr18:77624226G>A ENST00000316249.3 + 1 559 c.559G>A c.(559-561)Gtg>Atg p.V187M NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 187 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CGTGTCCTTCGTGGCCGTCAC 0.776000 7 38 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236997 140236997 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr5:140236997C>T ENST00000307360.5 + 1 1364 c.1364C>T c.(1363-1365)gCg>gTg p.A455V PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A455V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGCGTTCGCGCAGTCCGAG 0.687000 68 219 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150933236 150933236 + Nonsense_Mutation SNP G G T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:150933236G>T ENST00000271640.5 + 16 2888 c.2698G>T c.(2698-2700)Gag>Tag p.E900* SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.E900* NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 900 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GGACCCTGAAGAGTCCAATGA 0.527000 36 64 9.04072e-19 1.01569e-18 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 7 35 0 0 1 0 0 AKAP1 8165 broad.mit.edu 37 17 55193506 55193506 + Silent SNP G G T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr17:55193506G>T ENST00000337714.3 + 7 2549 c.2316G>T c.(2314-2316)ggG>ggT p.G772G AKAP1_ENST00000571629.1_Silent_p.G772G|AKAP1_ENST00000539273.1_Silent_p.G772G|AKAP1_ENST00000572557.1_Silent_p.G772G NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 772 Tudor. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GTGCGGACGGGGCCTGGTGGC 0.632000 18 57 9.16793e-09 1.00516e-08 1 1 0 ZEB1 6935 broad.mit.edu 37 10 31815754 31815754 + Missense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr10:31815754G>A ENST00000446923.2 + 9 3280 c.2889G>A c.(2887-2889)atG>atA p.M963I ZEB1_ENST00000320985.10_Missense_Mutation_p.M979I|ZEB1_ENST00000560721.2_Missense_Mutation_p.M959I|ZEB1_ENST00000361642.5_Missense_Mutation_p.M980I|ZEB1_ENST00000542815.3_Missense_Mutation_p.M912I NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 979 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) CTCAACACATGAATCATCGCT 0.468000 11 27 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 33 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368632 86368632 + Missense_Mutation SNP T T A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr13:86368632T>A ENST00000400286.2 - 2 2610 c.2012A>T c.(2011-2013)gAa>gTa p.E671V NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 671 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AGAGGGTCTTTCAGTAGTGTG 0.438000 25 70 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477377 88477377 + Silent SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr14:88477377C>T ENST00000267549.3 + 2 744 c.186C>T c.(184-186)ctC>ctT p.L62L RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 62 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 CAGATTTACTCTATGCATTAA 0.398000 30 75 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127483420 127483420 + Splice_Site SNP A A G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr5:127483420A>G ENST00000262461.2 + 11 2069 c.1881_splice c.e11+1 p.Q627_splice SLC12A2_ENST00000343225.4_Splice_Site_p.Q627_splice NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 627 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAAATATTTCAGGTAAGTGTT 0.328000 10 24 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44130210 44130210 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr12:44130210C>T ENST00000416848.2 - 7 2187 c.1699G>A c.(1699-1701)Gat>Aat p.D567N PUS7L_ENST00000551923.1_Missense_Mutation_p.D567N|PUS7L_ENST00000344862.5_Missense_Mutation_p.D567N|PUS7L_ENST00000431332.3_Missense_Mutation_p.D254N NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 567 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTCTCGTCATCAATGTCTTCA 0.368000 13 61 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17629177 17629177 + Missense_Mutation SNP C C A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:17629177C>A ENST00000262077.2 - 18 3252 c.3253G>T c.(3253-3255)Ggc>Tgc p.G1085C NUP153_ENST00000537253.1_Missense_Mutation_p.G1116C NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 1085 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TCCACGTTGCCAAAAGAGAAT 0.458000 13 66 5.50884e-06 5.8977e-06 1 1 0 KIAA0355 9710 broad.mit.edu 37 19 34832983 34832983 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr19:34832983C>T ENST00000299505.6 + 10 3017 c.2144C>T c.(2143-2145)cCg>cTg p.P715L NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 715 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ACACCCCAGCCGGGACTGGCA 0.647000 37 160 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 13948147 13948147 + Splice_Site SNP C C A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr8:13948147C>A ENST00000382080.1 - 8 1460 c.e8-1 SGCZ_ENST00000421524.2_Splice_Site NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TTAAAAATATCTATGGGAAAA 0.388000 9 28 0.00448238 0.00458311 1 1 0 CNTNAP5 129684 broad.mit.edu 37 2 124999953 124999953 + Missense_Mutation SNP C C G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:124999953C>G ENST00000431078.1 + 3 728 c.364C>G c.(364-366)Caa>Gaa p.Q122E NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 122 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACAGTACAAACAAGAAGACAG 0.448000 3 16 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2913354 2913354 + Silent SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr18:2913354C>T ENST00000254528.3 + 8 3273 c.3114C>T c.(3112-3114)taC>taT p.Y1038Y EMILIN2_ENST00000308080.5_3'UTR NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 1038 C1q. cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) ATGAAATGTACTCCACATTTA 0.498000 4 63 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62293120 62293120 + Silent SNP A A G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:62293120A>G ENST00000371158.2 + 16 1959 c.1845A>G c.(1843-1845)aaA>aaG p.K615K INADL_ENST00000316485.6_Silent_p.K615K NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 615 PDZ 4. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TTTATGGAAAATCTCGCCGAG 0.423000 40 115 0 0 1 0 0 DDX42 11325 broad.mit.edu 37 17 61885097 61885097 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr17:61885097C>T ENST00000578681.1 + 10 1461 c.860C>T c.(859-861)gCa>gTa p.A287V DDX42_ENST00000583590.1_Missense_Mutation_p.A287V|DDX42_ENST00000457800.2_Missense_Mutation_p.A287V|DDX42_ENST00000389924.2_Missense_Mutation_p.A287V|DDX42_ENST00000359353.5_Missense_Mutation_p.A168V NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 287 Helicase ATP-binding. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GTGCCTGTGGCATTAAGTGGT 0.393000 24 74 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058330 11058330 + RNA SNP G G A rs138162498 TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr21:11058330G>A 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) ATCGCTGAAAGGGGTAAAGGA 0.378000 6 110 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77378137 77378137 + Missense_Mutation SNP A A C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr11:77378137A>C ENST00000308488.6 - 16 4453 c.4151T>G c.(4150-4152)aTt>aGt p.I1384S RSF1_ENST00000480887.1_Missense_Mutation_p.I1132S|RSF1_ENST00000360355.2_Missense_Mutation_p.I1353S Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1384 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) AGGCTTGCCAATCAAGTTCTC 0.522000 28 89 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 4 23 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110466981 110466981 + Silent SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr8:110466981C>T ENST00000378402.5 + 45 6878 c.6774C>T c.(6772-6774)caC>caT p.H2258H NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2258 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATTCCAACACAAGGCTGTCA 0.468000 HNSCC(38;0.096) 18 43 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 7 89 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 28 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196238 62196238 + Missense_Mutation SNP G G C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr20:62196238G>C ENST00000467148.1 - 8 4006 c.3937C>G c.(3937-3939)Cag>Gag p.Q1313E HELZ2_ENST00000427522.2_Missense_Mutation_p.Q744E NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator ATGGTGGCCTGGTCCGACGGG 0.672000 21 63 0 0 1 0 0 UBA3 9039 broad.mit.edu 37 3 69120701 69120701 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr3:69120701C>T ENST00000361055.4 - 5 386 c.332G>A c.(331-333)aGg>aAg p.R111K UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Missense_Mutation_p.R97K|UBA3_ENST00000415609.2_Missense_Mutation_p.R70K NM_003968.3 NP_003959.3 Q8TBC4 UBA3_HUMAN ubiquitin-like modifier activating enzyme 3 111 protein neddylation|proteolysis nucleus acid-amino acid ligase activity|ATP binding|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241) TAAAAACTGCCTATTTAGATT 0.289000 4 10 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37414095 37414095 + Missense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:37414095G>A ENST00000373451.4 + 4 478 c.314G>A c.(313-315)gGa>gAa p.G105E NM_015050.2 NP_055865.1 Q8N1G2 MTR1_HUMAN 105 G-patch. mRNA capping cytoplasm|nucleus mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2) 31 GAAGGTGAAGGATTGGGTAAA 0.493000 48 147 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52813575 52813575 + Missense_Mutation SNP A A G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr3:52813575A>G ENST00000273283.2 + 5 562 c.538A>G c.(538-540)Aaa>Gaa p.K180E ITIH1_ENST00000540715.1_Missense_Mutation_p.K38E|ITIH1_ENST00000542827.1_Missense_Mutation_p.K180E NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 180 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) AATTGTCATCAAAGTCAAGCC 0.532000 21 80 0 0 1 0 0 WDR92 116143 broad.mit.edu 37 2 68358560 68358560 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:68358560C>T ENST00000295121.6 - 8 1000 c.884G>A c.(883-885)cGg>cAg p.R295Q WDR92_ENST00000492039.2_5'UTR NM_138458.3 NP_612467.1 Q96MX6 WDR92_HUMAN WD repeat domain 92 295 apoptosis|histone lysine methylation methylated histone residue binding endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1) 12 TTTCTTTGACCGCTGAATAGG 0.388000 19 59 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40258684 40258684 + Splice_Site SNP C C A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr12:40258684C>A ENST00000280871.4 - 6 1249 c.1198_splice c.e6-1 p.G400_splice NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 400 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TACGGTGGTACCTTAAAAAAA 0.373000 HNSCC(50;0.14) 14 37 2.32078e-09 2.5755e-09 1 1 0 LCMT2 9836 broad.mit.edu 37 15 43621188 43621188 + Silent SNP A A C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr15:43621188A>C ENST00000305641.5 - 1 1615 c.1500T>G c.(1498-1500)ggT>ggG p.G500G LCMT2_ENST00000544735.1_Silent_p.G79G|LCMT2_ENST00000567039.1_3'UTR NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 500 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) CCACGCTTCGACCCCCATACA 0.502000 25 88 0 0 1 0 0 NCALD 83988 broad.mit.edu 37 8 102705020 102705020 + Splice_Site SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr8:102705020G>A ENST00000395923.1 - 5 942 c.484_splice c.e5+1 p.D161_splice NCALD_ENST00000522951.1_Splice_Site_p.D161_splice|NCALD_ENST00000311028.3_Splice_Site_p.D161_splice|NCALD_ENST00000519508.2_Splice_Site_p.D161_splice|NCALD_ENST00000521599.1_Splice_Site_p.D161_splice|NCALD_ENST00000220931.6_Splice_Site_p.D161_splice NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 161 EF-hand 4. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) GCCTCCTACCGTCTCTATTGG 0.512000 12 38 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735662 158735662 + Missense_Mutation SNP C C T rs150263738 byFrequency TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:158735662C>T ENST00000335094.2 - 1 830 c.811G>A c.(811-813)Gac>Aac p.D271N NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) AGGGCCTGGTCATAGTCCAGT 0.532000 33 144 0 0 1 0 0 ABCF3 55324 broad.mit.edu 37 3 183910606 183910606 + Missense_Mutation SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr3:183910606G>A ENST00000429586.2 + 18 1857 c.1672G>A c.(1672-1674)Ggc>Agc p.G558S EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.G552S NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 558 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCTGAAGATTGGCTATTTCAG 0.542000 10 42 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51751972 51751972 + Silent SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:51751972C>T ENST00000371117.3 - 44 7343 c.7068G>A c.(7066-7068)ccG>ccA p.P2356P PKHD1_ENST00000340994.4_Silent_p.P2356P NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2356 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.P2356P(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AGGAAAGAAGCGGAGCTTGTG 0.388000 16 37 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19505624 19505624 + Missense_Mutation SNP G G C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:19505624G>C ENST00000375267.2 - 18 2278 c.2275C>G c.(2275-2277)Cgc>Ggc p.R759G UBR4_ENST00000375254.3_Missense_Mutation_p.R759G|UBR4_ENST00000375217.2_Missense_Mutation_p.R759G|UBR4_ENST00000375226.2_Missense_Mutation_p.R759G Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 759 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) AGCAGGAGGCGTGAAAGCACA 0.507000 35 60 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 70 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106110069 106110069 + RNA SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr14:106110069G>A ENST00000390545.2 - 0 548 CGGTGAGGACGCTGACCACAC 0.582000 82 246 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219301263 219301263 + Missense_Mutation SNP G G C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:219301263G>C ENST00000248444.5 + 16 1973 c.1885G>C c.(1885-1887)Ggg>Cgg p.G629R VIL1_ENST00000392114.2_Missense_Mutation_p.G318R NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 629 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.G629W(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAACAAGACTGGGCGCTTCCT 0.522000 65 151 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938335 38938335 + Splice_Site SNP C C A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr3:38938335C>A ENST00000302328.3 - 14 2602 c.e14+1 SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AAGACACATACCACAAGTTTT 0.308000 4 16 1 1 1 1 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26232191 26232191 + Missense_Mutation SNP T T C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr7:26232191T>C ENST00000354667.4 - 11 1175 c.1007A>G c.(1006-1008)tAt>tGt p.Y336C HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y324C NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 336 Gly-rich.|Nuclear targeting sequence (By similarity). RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 TCCTGGACCATAGTTTCCTAT 0.418000 T ETV1 prostate 34 105 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584955 82584955 + Missense_Mutation SNP C C T TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr7:82584955C>T ENST00000423517.2 - 5 5651 c.5314G>A c.(5314-5316)Gat>Aat p.D1772N PCLO_ENST00000333891.8_Missense_Mutation_p.D1772N NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1703 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TCTGAAGAATCTTCAATAGTA 0.428000 30 88 0 0 1 0 0 CDC20 991 broad.mit.edu 37 1 43826790 43826790 + Splice_Site SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:43826790G>A ENST00000372462.1 + 8 1280 c.e8-1 CDC20_ENST00000310955.6_Splice_Site Q12834 CDC20_HUMAN cell division cycle 20 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle cytosol|nucleoplasm|spindle enzyme binding|protein C-terminus binding endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATTCCATCTAGGCCGTAGCAT 0.557000 18 58 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11032424 11032424 + Silent SNP C C T rs147684194 byFrequency TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr19:11032424C>T ENST00000327064.4 + 16 2008 c.1818C>T c.(1816-1818)taC>taT p.Y606Y CARM1_ENST00000344150.4_Silent_p.Y583Y NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 606 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 CCATGCACTACGGGAGCTAGG 0.662000 12 163 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205238182 205238182 + Silent SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:205238182G>A ENST00000358024.3 + 3 1241 c.852G>A c.(850-852)cgG>cgA p.R284R TMCC2_ENST00000545499.1_Silent_p.R206R|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.R59R|TMCC2_ENST00000329800.7_Silent_p.R44R NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 284 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) ACCCCCAGCGGACCAAGGCCG 0.637000 25 127 0 0 1 0 0 KCTD2 23510 broad.mit.edu 37 17 73059133 73059133 + Silent SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr17:73059133G>A ENST00000322444.6 + 6 789 c.783G>A c.(781-783)tcG>tcA p.S261S KCTD2_ENST00000581589.1_Silent_p.S62S NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 261 voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) AGAGAGGATCGCGGATGTAAA 0.557000 4 47 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175618381 175618381 + Missense_Mutation SNP A A C TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:175618381A>C ENST00000348749.5 - 6 705 c.628T>G c.(628-630)Tat>Gat p.Y210D CHRNA1_ENST00000409323.1_Missense_Mutation_p.Y210D|CHRNA1_ENST00000409542.1_Missense_Mutation_p.Y128D|CHRNA1_ENST00000409219.1_Missense_Mutation_p.Y210D|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Missense_Mutation_p.Y235D NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 235 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 CAGCAGGAATAGGTCACGGAG 0.592000 11 103 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871082 170871082 + Silent SNP G G A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:170871082G>A ENST00000392092.2 + 3 537 c.258G>A c.(256-258)caG>caA p.Q86Q TBP_ENST00000540980.1_Silent_p.Q66Q|TBP_ENST00000230354.6_Silent_p.Q86Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 86 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q86Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 5 56 0 0 1 0 0 MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 7 59 --- --- --- --- WNT6 7475 broad.mit.edu 37 2 219724790 219724792 + In_Frame_Del DEL GCT GCT - TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr2:219724790_219724792delGCT ENST00000233948.3 + 1 247_249 c.30_32delGCT c.(28-33)ggg>gg p.GL10del WNT6_ENST00000486233.1_3'UTR NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 10 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.L17delL(1) large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCCGCCTCGGGCTGCTGCTGCTG 0.773 2 4 --- --- --- --- CTNNB1 1499 broad.mit.edu 37 3 41268759 41268760 + In_Frame_Ins INS - - ACG TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr3:41268759_41268760insACG ENST00000349496.5 + 7 1277_1278 c.997_998insACG c.(997-999)cga>ACGcga p.332_333insT CTNNB1_ENST00000405570.1_In_Frame_Ins_p.332_333insT|CTNNB1_ENST00000453024.1_In_Frame_Ins_p.325_326insT|CTNNB1_ENST00000396183.3_In_Frame_Ins_p.332_333insT|CTNNB1_ENST00000396185.3_In_Frame_Ins_p.332_333insT NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 332 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GACCTATACTTACGAAAAACTA 0.386 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 8 60 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324730 74324730 + Frame_Shift_Del DEL A A - TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr5:74324730delA ENST00000322348.4 - 1 1994 c.1133delT c.(1132-1134)tcfs p.F378fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 378 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ACTGGGATAGAAAAAGCCTTC 0.438 7 41 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29761783 29761784 + RNA INS - - G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:29761783_29761784insG ENST00000457107.1 + 0 1009_1010 ggattggtgcaaagccctgctt 0.550 3 6 --- --- --- --- MDFI 4188 broad.mit.edu 37 6 41621169 41621171 + In_Frame_Del DEL CTG CTG - TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr6:41621169_41621171delCTG ENST00000373050.4 + 4 601_603 c.414_416delCTG c.(412-417)ctc>ct p.LC138del Q99750 MDFI_HUMAN MyoD family inhibitor 199 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) ACTCGTGCCTCTGCTGCTGCTGC 0.655 7 233 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 114186064 114186064 + Frame_Shift_Del DEL T T - TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr8:114186064delT ENST00000297405.5 - 4 840 c.596delA c.(595-597)agfs p.K199fs CSMD3_ENST00000352409.3_Frame_Shift_Del_p.K199fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.K199fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.K159fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 199 Sushi 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTAGCGGATCTTGTCCCCGAC 0.453 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 72 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 6 9 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 2 4 --- --- --- --- APOC1P1 342 broad.mit.edu 37 19 45431267 45431268 + RNA INS - - A TCGA-62-A46V-01A-11D-A24D-08 TCGA-62-A46V-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c39c017-a02d-4ed9-bd4d-29e243c8ab82 1658aa2e-ddb3-4e73-aee4-33c3f640ce41 g.chr19:45431267_45431268insA ENST00000574565.1 + 0 402 NR_028412.1 TGAACAGATTGAAAAAAAAAAC 0.525 3 3 --- --- --- ---