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 FER1L6 654463 broad.mit.edu 37 8 125072866 125072866 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr8:125072866C>T ENST00000522917.1 + 24 3269 c.3063C>T c.(3061-3063)tgC>tgT p.C1021C FER1L6_ENST00000399018.1_Silent_p.C1021C|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1021 integral to membrane p.C1021C(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TCATTGAGTGCGGAGGACAAG 0.547000 26 56 0 0 1 0 0 EIF2B4 0 broad.mit.edu 37 2 27590021 27590021 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:27590021C>G ENST00000493344.2 - 9 1308 c.996G>C c.(994-996)aaG>aaC p.K332N EIF2B4_ENST00000347454.4_Missense_Mutation_p.K311N|AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000451130.2_Missense_Mutation_p.K331N|EIF2B4_ENST00000445933.2_Missense_Mutation_p.K310N Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 311 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTAGCACAATCTTCTCTTGCA 0.438000 5 107 0 0 1 0 0 TRIT1 54802 broad.mit.edu 37 1 40318540 40318540 + Missense_Mutation SNP C C A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:40318540C>A ENST00000316891.5 - 4 437 c.423G>T c.(421-423)gaG>gaT p.E141D TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.E61D|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E141D|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537223.1_Intron NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 141 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAGTGCCCATCTCCTGGGGCT 0.443000 7 153 0.0293803 0.0296524 1 1 0 DDX58 23586 broad.mit.edu 37 9 32457322 32457322 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:32457322C>T ENST00000379882.1 - 17 2598 c.2441G>A c.(2440-2442)aGa>aAa p.R814K DDX58_ENST00000379883.2_Missense_Mutation_p.R859K|DDX58_ENST00000542096.1_Missense_Mutation_p.R788K|DDX58_ENST00000379868.1_Missense_Mutation_p.R656K O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 859 Repressor domain. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TATCTTTGCTCTTTTTTCAAA 0.398000 10 54 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057031 72057031 + Silent SNP A A C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:72057031A>C ENST00000378743.3 - 1 718 c.360T>G c.(358-360)ccT>ccG p.P120P ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Silent_p.P120P|ZFC3H1_ENST00000548100.1_Silent_p.P120P NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 120 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GTGAGCTCGAAGGCATCCGTA 0.657000 57 95 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 36 1 1 1 1 0 COL4A5 1287 broad.mit.edu 37 X 107834385 107834385 + Silent SNP T T G rs104886109 TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chrX:107834385T>G ENST00000328300.6 + 20 1507 c.1263T>G c.(1261-1263)ccT>ccG p.P421P COL4A5_ENST00000361603.2_Silent_p.P421P NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 421 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTCCTGGACCTCCTGGACTTG 0.557000 Alport syndrome with Diffuse Leiomyomatosis 26 65 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13541899 13541899 + Silent SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:13541899G>C ENST00000341083.3 - 3 467 c.171C>G c.(169-171)ctC>ctG p.L57L BEND7_ENST00000396898.2_Silent_p.L109L|BEND7_ENST00000396900.2_Silent_p.L109L|BEND7_ENST00000378605.3_Silent_p.L57L NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 109 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 AAGACGGGTGGAGGCTTTGCG 0.562000 8 115 0 0 1 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064504 78064504 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:78064504G>C ENST00000299642.4 + 3 472 c.387G>C c.(385-387)agG>agC p.R129S CLEC3A_ENST00000575655.1_Missense_Mutation_p.R120S|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA NM_001244755.1 NP_001231684.1 O75596 CLC3A_HUMAN C-type lectin domain family 3, member A 120 C-type lectin. skeletal system development extracellular region sugar binding NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 18 ATGGTAAAAGGAGCCTGCCAG 0.488000 36 167 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076162 51076162 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chrX:51076162G>A ENST00000376006.3 + 2 565 c.345G>A c.(343-345)agG>agA p.R115R NUDT10_ENST00000356450.2_Silent_p.R115R NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 115 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) GCATTGGGAGGAAGCGAGAGT 0.532000 12 107 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947970 40947970 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr19:40947970C>T ENST00000322354.3 - 2 514 c.18G>A c.(16-18)aaG>aaA p.K6K SERTAD3_ENST00000392028.4_Silent_p.K6K NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 6 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTGTTTCCTCTTCAAGCCTC 0.562000 15 19 0 0 1 0 0 MTERFD3 80298 broad.mit.edu 37 12 107372093 107372093 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:107372093C>T ENST00000552029.1 - 2 2468 c.400G>A c.(400-402)Gag>Aag p.E134K MTERFD3_ENST00000240050.4_Missense_Mutation_p.E134K|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E134K Q49AM1 MTER3_HUMAN MTERF domain containing 3 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 GGAAACTGCTCTATTAACTTG 0.403000 45 85 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854171 40854171 + Nonsense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:40854171C>T ENST00000254691.5 + 3 2936 c.2737C>T c.(2737-2739)Cag>Tag p.Q913* CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 913 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 ACCTGCTTCTCAGCAAGGAGT 0.478000 11 190 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28972184 28972184 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr18:28972184G>C ENST00000359747.4 + 8 915 c.886G>C c.(886-888)Gat>Cat p.D296H DSG4_ENST00000308128.4_Missense_Mutation_p.D296H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 296 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AATTGATCTTGATGAAGAAGG 0.358000 3 38 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 5 35 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37153437 37153437 + Nonstop_Mutation SNP A A T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr20:37153437A>T ENST00000537204.1 + 10 1684 c.1434A>T c.(1432-1434)taA>taT p.*478Y RALGAPB_ENST00000397042.3_Missense_Mutation_p.I546F|RALGAPB_ENST00000397038.1_Missense_Mutation_p.I324F|RALGAPB_ENST00000262879.6_Missense_Mutation_p.I546F|RALGAPB_ENST00000397040.1_Missense_Mutation_p.I546F Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 0 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CATGCTTTTAATTCAAGGTTT 0.328000 42 53 0 0 1 0 0 GTF2IRD1P1 0 broad.mit.edu 37 7 66296199 66296199 + RNA SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:66296199C>T ENST00000457166.1 - 0 667 NR_003934.1 GCATCTCCATCCCACAATCAG 0.567000 3 32 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33450189 33450189 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:33450189C>T ENST00000283629.3 - 8 1449 c.920G>A c.(919-921)cGa>cAa p.R307Q UBP1_ENST00000283628.5_Missense_Mutation_p.R307Q|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Intron NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 307 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TACACTGCCTCGCTTTGCCAG 0.448000 5 63 0 0 1 0 0 OPN4 94233 broad.mit.edu 37 10 88419672 88419672 + Missense_Mutation SNP C C A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:88419672C>A ENST00000372071.2 + 7 1081 c.854C>A c.(853-855)gCc>gAc p.A285D OPN4_ENST00000241891.5_Missense_Mutation_p.A274D NM_001030015.2 NP_001025186.1 Q9UHM6 OPN4_HUMAN opsin 4 274 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception integral to membrane|plasma membrane 11-cis retinal binding|G-protein coupled photoreceptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3) 18 ACCTTCGGGGCCTGCAAGGGC 0.637000 5 61 0.000602214 0.000625156 1 1 0 MACF1 23499 broad.mit.edu 37 1 39799522 39799522 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:39799522C>T ENST00000564288.1 + 37 8039 c.7262C>T c.(7261-7263)tCa>tTa p.S2421L MACF1_ENST00000372915.3_Missense_Mutation_p.S2426L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2458L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S861L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2426 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAAAAAGTTTCAGTAACTTTG 0.433000 5 87 0 0 1 0 0 C16orf62 57020 broad.mit.edu 37 16 19711771 19711771 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:19711771C>T ENST00000438132.3 + 31 3180 c.3132C>T c.(3130-3132)ctC>ctT p.L1044L C16orf62_ENST00000417362.2_Silent_p.L862L|C16orf62_ENST00000543152.1_Silent_p.L704L|C16orf62_ENST00000542263.1_Silent_p.L951L|C16orf62_ENST00000448695.1_Silent_p.L805L|C16orf62_ENST00000251143.5_Silent_p.L955L NM_020314.5 NP_064710.4 Q7Z3J2 CP062_HUMAN chromosome 16 open reading frame 62 955 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 36 AGCTGGCCCTCAGACTCCCTC 0.522000 20 35 0 0 1 0 0 LRPPRC 10128 broad.mit.edu 37 2 44174896 44174896 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:44174896C>G ENST00000260665.7 - 19 1996 c.1939G>C c.(1939-1941)Gag>Cag p.E647Q NM_133259.3 NP_573566.2 P42704 LPPRC_HUMAN leucine-rich pentatricopeptide repeat containing 647 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2) 41 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTCTTACTCTCAACCAACAAG 0.294000 4 19 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142458441 142458441 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:142458441G>A ENST00000486171.1 + 2 93 c.76G>A c.(76-78)Ggg>Agg p.G26R PRSS1_ENST00000311737.7_Missense_Mutation_p.G26R P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 26 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CAAGATCGTTGGGGGCTACAA 0.547000 8 203 0 0 1 0 0 LARGE 9215 broad.mit.edu 37 22 34046477 34046477 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr22:34046477C>T ENST00000354992.2 - 4 855 c.284G>A c.(283-285)cGa>cAa p.R95Q LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000402320.1_Missense_Mutation_p.R95Q|LARGE_ENST00000437602.2_Missense_Mutation_p.R95Q|LARGE_ENST00000397394.2_Missense_Mutation_p.R95Q|LARGE_ENST00000337431.2_Missense_Mutation_p.R95Q NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 95 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) GTGGTTGCCTCGGCGATGGGA 0.682000 8 120 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183685541 183685541 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:183685541C>T ENST00000334444.6 - 12 2015 c.1775G>A c.(1774-1776)gGa>gAa p.G592E ABCC5_ENST00000265586.6_Missense_Mutation_p.G592E NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 592 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCCACAGATTCCAACCAGTTT 0.438000 5 121 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42626418 42626418 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr6:42626418G>A ENST00000372899.1 + 29 3356 c.3098G>A c.(3097-3099)aGa>aAa p.R1033K UBR2_ENST00000372883.3_Missense_Mutation_p.E541K|UBR2_ENST00000372901.1_Missense_Mutation_p.R1033K NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1033 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GAGAGGAAGAGAAAAGCAGAG 0.393000 4 64 0 0 1 0 0 COX20 116228 broad.mit.edu 37 1 245006477 245006477 + Nonstop_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:245006477G>C ENST00000411948.2 + 4 749 c.356G>C c.(355-357)tGa>tCa p.*119S COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Nonstop_Mutation_p.*131S NM_198076.4 NP_932342.1 Q5RI15 FA36A_HUMAN COX20 cytochrome C oxidase assembly factor 0 integral to membrane AGCAGCAATTGAACAATCTTG 0.348000 4 68 0 0 1 0 0 UBE2A 7319 broad.mit.edu 37 X 118708873 118708873 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chrX:118708873G>A ENST00000371558.2 + 2 228 c.54G>A c.(52-54)gaG>gaA p.E18E UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Silent_p.E18E NM_003336.2|NM_181762.1 NP_003327.2|NP_861427.1 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A 18 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity haematopoietic_and_lymphoid_tissue(1)|lung(7) 8 GGTTGCAGGAGGATCCTCCAG 0.692000 Rad6 pathway 29 46 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49933541 49933541 + Splice_Site SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:49933541C>T ENST00000296474.3 - 11 2677 c.e11-1 MST1R_ENST00000344206.4_Intron NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCCCAATATACTGCAGAGAGG 0.577000 55 127 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134021671 134021671 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:134021671C>T ENST00000359428.5 + 13 2069 c.1925C>T c.(1924-1926)tCa>tTa p.S642L RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S642L|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S631L|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA P35658 NU214_HUMAN nucleoporin 214kDa 642 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TTGAAGTCCTCAGTCTTGCCC 0.502000 T """DEK, SET, ABL1""" """AML, T-ALL""" 9 247 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821420 72821420 + Silent SNP A A C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:72821420A>C ENST00000268489.5 - 10 11427 c.10755T>G c.(10753-10755)tcT>tcG p.S3585S ZFHX3_ENST00000397992.5_Silent_p.S2671S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3585 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ACTGCGAGGTAGATGCGGTGC 0.617000 48 80 0 0 1 0 0 THOC5 8563 broad.mit.edu 37 22 29915049 29915049 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr22:29915049G>C ENST00000490103.1 - 15 1557 c.1435C>G c.(1435-1437)Ctg>Gtg p.L479V THOC5_ENST00000397873.2_Missense_Mutation_p.L479V|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.L479V|THOC5_ENST00000397872.1_Missense_Mutation_p.L479V NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 479 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTGGTCTTCAGAAGTTTCATG 0.537000 6 157 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) 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) tgctgctgctgctactgctgc 0.537000 T MLL ALL 9 115 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 6 27 0 0 1 0 0 CBX5 23468 broad.mit.edu 37 12 54651351 54651351 + Missense_Mutation SNP C C A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:54651351C>A ENST00000209875.4 - 2 220 c.84G>T c.(82-84)agG>agT p.R28S CBX5_ENST00000439541.2_Missense_Mutation_p.R28S|CBX5_ENST00000550411.1_Missense_Mutation_p.R28S NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 28 Chromo 1. blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 TAACCACGCGCCTGTCTAGCA 0.488000 41 63 4.40578e-31 4.75475e-31 1 1 0 LOX 4015 broad.mit.edu 37 5 121413255 121413255 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:121413255C>T ENST00000231004.4 - 1 725 c.426G>A c.(424-426)gcG>gcA p.A142A NM_001178102.1|NM_002317.5 NP_001171573.1|NP_002308.2 P28300 LYOX_HUMAN lysyl oxidase 142 protein modification process extracellular space copper ion binding|protein-lysine 6-oxidase activity endometrium(1)|lung(6)|prostate(1) 8 all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02) TCTGGTTCTCCGCGCGCGAGG 0.682000 28 38 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661208 22661208 + RNA SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr22:22661208C>T ENST00000426066.1 + 0 300 NR_027293.1 CTGAATCATGCAGAATTTGAA 0.408000 4 47 0 0 1 0 0 GOLGA2B 0 broad.mit.edu 37 12 100551837 100551837 + RNA SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:100551837C>T ENST00000397112.4 - 0 1618 NR_036632.1 large_intestine(1)|lung(3) 4 ACCTCCTCCTCCTCCTCACTG 0.632000 3 14 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 3 37 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 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 24 26 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126312016 126312016 + Missense_Mutation SNP A A C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:126312016A>C ENST00000337318.3 - 5 1275 c.1064T>G c.(1063-1065)gTc>gGc p.V355G RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.V355G NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 355 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) AGGCTCAGGGACCGGGGTCCC 0.706000 13 11 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64527091 64527091 + Splice_Site SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:64527091C>G ENST00000498707.1 - 35 5635 c.e35-1 ADAMTS9_ENST00000295903.4_Splice_Site NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CACAGAATATCTGAAAGACCA 0.458000 6 126 0 0 1 0 0 PELO 53918 broad.mit.edu 37 5 52097426 52097426 + Nonsense_Mutation SNP G G T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:52097426G>T ENST00000274311.2 + 3 1895 c.910G>T c.(910-912)Gaa>Taa p.E304* PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 304 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) GAAGGCCAATGAAGCCATGGC 0.502000 20 48 8.00594e-06 8.47231e-06 1 1 0 SLC30A8 169026 broad.mit.edu 37 8 118159317 118159317 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr8:118159317G>A ENST00000427715.2 + 5 483 c.49G>A c.(49-51)Gag>Aag p.E17K SLC30A8_ENST00000521243.1_Missense_Mutation_p.E17K|SLC30A8_ENST00000456015.2_Missense_Mutation_p.E66K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E17K NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 66 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity p.E66Q(1) breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) GGGGGCGAATGAGTACGCCTA 0.498000 5 133 0 0 1 0 0 KIAA1919 91749 broad.mit.edu 37 6 111583465 111583465 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr6:111583465G>A ENST00000368847.4 + 2 386 c.33G>A c.(31-33)ttG>ttA p.L11L NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 11 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) TTTAGGGATTGAGTGTTGCTA 0.358000 5 109 0 0 1 0 0 C10orf62 414157 broad.mit.edu 37 10 99349675 99349675 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:99349675G>C ENST00000370640.3 + 1 226 c.21G>C c.(19-21)aaG>aaC p.K7N HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|PI4K2A_ENST00000370649.3_Intron NM_001009997.2 NP_001009997.2 Q5T681 CJ062_HUMAN chromosome 10 open reading frame 62 7 protein binding endometrium(2)|kidney(1)|lung(1) 4 Colorectal(252;0.162) Epithelial(162;9.58e-11)|all cancers(201;8.62e-09) TTCAGAGAAAGAGGAGAAGAA 0.498000 5 88 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782199 56782199 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:56782199G>A ENST00000569842.1 + 2 136 c.40G>A c.(40-42)Gaa>Aaa p.E14K NUP93_ENST00000308159.5_Missense_Mutation_p.E14K Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 14 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E14K(3) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TCAGCAAGCTGAACAGCTTGC 0.517000 6 74 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 12957007 12957007 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr8:12957007G>A ENST00000276297.4 - 9 3248 c.2839C>T c.(2839-2841)Cca>Tca p.P947S DLC1_ENST00000520226.1_Missense_Mutation_p.P436S|DLC1_ENST00000512044.2_Missense_Mutation_p.P544S|DLC1_ENST00000358919.2_Missense_Mutation_p.P510S NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 947 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 ATCTGTTTTGGAGAGGACGGG 0.567000 4 71 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16799102 16799102 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr19:16799102C>G ENST00000187762.2 + 6 911 c.820C>G c.(820-822)Cag>Gag p.Q274E NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 274 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 GCCAGGAGCTCAGCATTCGGC 0.647000 8 170 0 0 1 0 0 HMOX2 3163 broad.mit.edu 37 16 4557905 4557905 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:4557905G>A ENST00000570646.1 + 4 1001 c.396G>A c.(394-396)caG>caA p.Q132Q HMOX2_ENST00000575120.1_Silent_p.Q103Q|HMOX2_ENST00000398595.3_Silent_p.Q132Q|HMOX2_ENST00000414777.1_Silent_p.Q132Q|HMOX2_ENST00000458134.3_Silent_p.Q132Q|HMOX2_ENST00000406590.2_Silent_p.Q132Q|HMOX2_ENST00000219700.6_Silent_p.Q132Q NM_002134.3 NP_002125.3 P30519 HMOX2_HUMAN heme oxygenase (decycling) 2 132 cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport endoplasmic reticulum membrane|microsome|plasma membrane electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) AGGCTGCCCAGAAGTACGTGG 0.607000 6 69 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130027837 130027837 + Silent SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:130027837G>C ENST00000011292.3 + 10 1395 c.1245G>C c.(1243-1245)ctG>ctC p.L415L CPA1_ENST00000484324.1_Silent_p.L327L NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 415 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) AGCACACCCTGAATCACCCCT 0.567000 14 278 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505811 195505811 + Missense_Mutation SNP T T C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:195505811T>C ENST00000463781.3 - 2 13099 c.12640A>G c.(12640-12642)Act>Gct p.T4214A MUC4_ENST00000475231.1_Missense_Mutation_p.T4214A|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 971 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GCTGAGGAAGTGTCGGTGACA 0.592000 3 14 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56496024 56496024 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr6:56496024G>A ENST00000370754.5 - 29 4027 c.4028C>T c.(4027-4029)tCc>tTc p.S1343F DST_ENST00000370765.6_Missense_Mutation_p.S839F|DST_ENST00000518935.1_Missense_Mutation_p.S839F|DST_ENST00000446842.2_Missense_Mutation_p.S839F|DST_ENST00000244364.6_Missense_Mutation_p.S839F|DST_ENST00000370788.2_Missense_Mutation_p.S1165F|DST_ENST00000361203.3_Missense_Mutation_p.S1165F|DST_ENST00000370769.4_Missense_Mutation_p.S1165F|DST_ENST00000312431.6_Missense_Mutation_p.S1165F|DST_ENST00000421834.2_Missense_Mutation_p.S1165F Q03001 DYST_HUMAN dystonin 1165 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATGTAAGTGGAAGACATAGA 0.318000 7 23 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 4 39 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98507778 98507778 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:98507778C>T ENST00000359863.4 + 15 1659 c.1450C>T c.(1450-1452)Ctg>Ttg p.L484L TRRAP_ENST00000446306.3_Silent_p.L484L|TRRAP_ENST00000355540.3_Silent_p.L484L NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 484 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGAAGCAGCTCTGCCTGGGGT 0.622000 5 118 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959814 16959814 + RNA SNP C C T rs1759187 by1000genomes TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:16959814C>T ENST00000412962.1 - 0 43 p.V18I(1) GCCTCCTGGACAGCTCCCCTC 0.642000 3 32 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181767468 181767468 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:181767468C>G ENST00000526775.1 + 46 6419 c.6254C>G c.(6253-6255)tCt>tGt p.S2085C CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2128C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S2036C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2147C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1711C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S2098C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S2104C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2147 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCCTCTGTCTCTGACACCAGC 0.592000 13 182 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27165613 27165613 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:27165613G>C ENST00000288699.6 + 11 1593 c.1435G>C c.(1435-1437)Gag>Cag p.E479Q DPYSL5_ENST00000401478.1_Missense_Mutation_p.E479Q NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 479 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTCCAGAGAGAGAAGGTGAG 0.562000 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 48 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79403640 79403640 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr4:79403640G>A ENST00000264895.6 + 58 9143 c.8703G>A c.(8701-8703)ctG>ctA p.L2901L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2896 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GAGCCGAACTGACCAAACCCT 0.433000 6 152 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29623199 29623199 + Missense_Mutation SNP C C A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr20:29623199C>A ENST00000278882.3 + 3 391 c.11C>A c.(10-12)cCt>cAt p.P4H FRG1B_ENST00000358464.4_Missense_Mutation_p.P4H|FRG1B_ENST00000439954.2_Silent_p.T5T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAGGGAACCTATATACATG 0.383000 10 357 0.00621372 0.00638958 1 1 0 FRMD4A 55691 broad.mit.edu 37 10 13708199 13708199 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr10:13708199G>A ENST00000357447.2 - 18 1869 c.1501C>T c.(1501-1503)Ctg>Ttg p.L501L FRMD4A_ENST00000358621.4_Silent_p.L486L|FRMD4A_ENST00000378503.1_Silent_p.L501L NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 501 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGTGCATTCAGATACGAGGTT 0.493000 27 87 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17405126 17405126 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr19:17405126G>A ENST00000247706.3 - 4 1359 c.1120C>T c.(1120-1122)Ccg>Tcg p.P374S MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 374 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 TCCTCCACCGGCACAAACTTA 0.672000 4 78 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113360974 113360974 + Missense_Mutation SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr4:113360974G>A ENST00000458497.1 + 14 3763 c.3484G>A c.(3484-3486)Ggc>Agc p.G1162S ALPK1_ENST00000504176.2_Missense_Mutation_p.G1084S|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1162S NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1162 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CTTGGCCTATGGCCATTTTTC 0.328000 9 14 0 0 1 0 0 DNALI1 7802 broad.mit.edu 37 1 38022591 38022591 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:38022591C>T ENST00000296218.7 + 1 72 c.62C>T c.(61-63)tCc>tTc p.S21F NM_003462.3 NP_003453.2 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 0 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACTCTCGCCTCCGCCATGATT 0.637000 6 58 0 0 1 0 0 NOS2P3 0 broad.mit.edu 37 17 20350011 20350011 + RNA SNP G G T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr17:20350011G>T ENST00000458685.2 + 0 2777 TATCTTTGGTGCTGTATTTCC 0.557000 6 15 0.0215528 0.0219556 1 1 0 TMEM2 23670 broad.mit.edu 37 9 74360334 74360334 + Missense_Mutation SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:74360334C>T ENST00000377044.4 - 4 1173 c.634G>A c.(634-636)Gaa>Aaa p.E212K TMEM2_ENST00000377066.5_Missense_Mutation_p.E212K NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 212 G8. integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GGCATACTTTCACCTTCATCT 0.483000 31 72 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 114 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726772 32726772 + Silent SNP G G A rs116693556 by1000genomes TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr6:32726772G>A ENST00000435145.2 - 3 562 c.501C>T c.(499-501)gcC>gcT p.A167A HLA-DQB2_ENST00000411527.1_Silent_p.A167A|HLA-DQB2_ENST00000437316.2_Silent_p.A167A Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 167 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACACAACACCGGCTGTCTCCT 0.547000 5 66 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903757 20903757 + Silent SNP T T C rs10841611 by1000genomes TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr12:20903757T>C ENST00000381552.1 + 14 2315 c.1947T>C c.(1945-1947)caT>caC p.H649H SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000540354.1_Intron Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 0 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.H649H(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCGCATCTCATTGCTACAGCA 0.378000 4 55 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672259 186672259 + Missense_Mutation SNP G G C TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:186672259G>C ENST00000343098.5 + 17 18493 c.18493G>C c.(18493-18495)Gat>Cat p.D6165H FSIP2_ENST00000424728.1_Missense_Mutation_p.D6076H NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CTTACAATCTGATGATGATGA 0.328000 7 101 0 0 1 0 0 ICAM1 3383 broad.mit.edu 37 19 10395858 10395858 + Silent SNP C C T TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr19:10395858C>T ENST00000264832.3 + 7 1819 c.1494C>T c.(1492-1494)ctC>ctT p.L498L ICAM1_ENST00000423829.2_Silent_p.L276L NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 498 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CTGCAGGCCTCAGCACGTACC 0.547000 4 65 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142650897 142650897 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:142650897C>G ENST00000355265.2 - 9 1545 c.1071G>C c.(1069-1071)caG>caC p.Q357H KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 357 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CGGCGAACCTCTGCTTTAGCA 0.547000 22 345 0 0 1 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49210251 49210251 + Missense_Mutation SNP A A G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:49210251A>G ENST00000332780.2 + 2 258 c.49A>G c.(49-51)Atg>Gtg p.M17V KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 17 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GTTCCCCCCCATGCCCACTTG 0.632000 22 57 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64124622 64124622 + Missense_Mutation SNP G G A rs61886888 by1000genomes TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr11:64124622G>A ENST00000359902.2 + 14 1951 c.1801G>A c.(1801-1803)Gga>Aga p.G601R CCDC88B_ENST00000356786.5_3'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_3'UTR A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1424 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGTGTCAGCGGAGGCCCCAG 0.667000 4 76 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55658652 55658652 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr11:55658652C>G ENST00000449290.2 + 7 995 c.903C>G c.(901-903)ttC>ttG p.F301L TRIM51_ENST00000244891.3_Missense_Mutation_p.F158L NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 301 B30.2/SPRY. intracellular zinc ion binding GTCATATCTTCCTGTGTGGAG 0.353000 16 102 0 0 1 0 0 EPSTI1 94240 broad.mit.edu 37 13 43462494 43462494 + Silent SNP G G A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr13:43462494G>A ENST00000313640.7 - 13 1189 c.1125C>T c.(1123-1125)gtC>gtT p.V375V EPSTI1_ENST00000313624.7_3'UTR NM_001002264.2 NP_001002264.1 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 (breast) 0 p.V375V(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1) 17 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) AGTCACTCCTGACTGCACGGT 0.418000 30 54 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143986205 143986205 + Missense_Mutation SNP A A G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:143986205A>G ENST00000409869.1 + 6 529 c.352A>G c.(352-354)Aaa>Gaa p.K118E ARHGAP15_ENST00000295095.6_Missense_Mutation_p.K118E Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 118 PH. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TGAATTTTACAAAGAATCCAA 0.303000 3 19 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40854298 40854298 + Missense_Mutation SNP C C G TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:40854298C>G ENST00000254691.5 + 3 3063 c.2864C>G c.(2863-2865)tCc>tGc p.S955C CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 955 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GTCAAACACTCCCAGCCTAAA 0.502000 24 282 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 7 103 --- --- --- --- C2orf73 129852 broad.mit.edu 37 2 54562140 54562141 + Frame_Shift_Ins INS - - A TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:54562140_54562141insA ENST00000398634.2 + 2 255_256 c.213_214insA c.(211-216)ccaaaafs p.PK71fs C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 71 breast(2) 2 ACATAGATCCCAAAAAAGGGCC 0.332 2 4 --- --- --- --- SLC35F5 80255 broad.mit.edu 37 2 114500277 114500277 + Frame_Shift_Del DEL A A - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr2:114500277delA ENST00000245680.2 - 7 1155 c.742delT c.(742-744)gcfs p.C248fs SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.C242fs NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 248 transport integral to membrane p.C248fs*22(2)|p.?(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 ACCACAAAGCAAAAAAAAAAG 0.343 7 59 --- --- --- --- RP11-615J4.3 0 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 4 3 --- --- --- --- PCDHGA1 0 broad.mit.edu 37 5 140710854 140710855 + Frame_Shift_Ins INS - - AGAGAAG TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr5:140710854_140710855insAGAGAAG ENST00000517417.1 + 1 603_604 c.603_604insAGAGAAG c.(601-606)gagagafs p.R202fs PCDHGA1_ENST00000378105.3_Frame_Shift_Ins_p.R202fs NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCCCTTAGACAGAGAAGAAGA 0.535 20 70 --- --- --- --- C6orf223 221416 broad.mit.edu 37 6 43970504 43970506 + In_Frame_Del DEL GCG GCG - rs72369323 TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr6:43970504_43970506delGCG ENST00000336600.5 + 4 390_392 c.370_372delGCG c.(370-372)del p.A132del C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000448947.2_3'UTR NM_001171992.1|NM_153246.4 NP_001165463.1|NP_694978.2 Q8N319 CF223_HUMAN chromosome 6 open reading frame 223 132 Ala-rich. A -> AA (in Ref. 2; AAH32706). central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcgg 0.773 4 5 --- --- --- --- DPY19L1 23333 broad.mit.edu 37 7 34979763 34979763 + Splice_Site DEL A A - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr7:34979763delA ENST00000310974.4 - 19 1790 c.e19+1 NM_015283.1 NP_056098.1 Q2PZI1 D19L1_HUMAN dpy-19-like 1 (C. elegans) integral to membrane endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 31 ttttttttttACCTGGTTTAG 0.328 2 4 --- --- --- --- C9orf152 401546 broad.mit.edu 37 9 112963659 112963662 + Frame_Shift_Del DEL CAGA CAGA - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr9:112963659_112963662delCAGA ENST00000400613.4 - 2 895_898 c.286_289delTCTG c.(286-291)agfs p.SE96fs C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 96 p.E76Q(1) NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CCCTCCACCTCAGAATCTGCCTCT 0.554 29 54 --- --- --- --- ELMO3 79767 broad.mit.edu 37 16 67233140 67233140 + Frame_Shift_Del DEL C C - TCGA-L6-A4EU-01A-11D-A257-08 TCGA-L6-A4EU-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 550bb92b-1fa2-4009-a523-e00d8023ad94 f1d7a99d-8365-4a2f-9aff-02ab48124103 g.chr16:67233140delC ENST00000393997.2 + 1 127 c.70delC c.(70-72)ctfs p.P24fs ELMO3_ENST00000360833.1_Frame_Shift_Del_p.P24fs NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 0 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GGGAGGACCTCCTCGTCCCCA 0.701 14 17 --- --- --- ---