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 PCDH15 65217 broad.mit.edu 37 10 55587219 55587219 + Missense_Mutation SNP G G A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr10:55587219G>A ENST00000373965.2 - 33 4716 c.4322C>T c.(4321-4323)gCg>gTg p.A1441V PCDH15_ENST00000320301.6_Missense_Mutation_p.A1434V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1434 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) cggcgggggcgCTGCCACTGG 0.577000 HNSCC(58;0.16) 20 130 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11872643 11872643 + Silent SNP G G A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr17:11872643G>A ENST00000262442.3 + 69 13328 c.13260G>A c.(13258-13260)ctG>ctA p.L4420L RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Silent_p.L732L|DNAH9_ENST00000454412.2_Silent_p.L4344L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4420 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGCAAAGCTGAAGGATCTGA 0.512000 12 152 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21970200 21970200 + Silent SNP G G A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr12:21970200G>A ENST00000261200.4 - 31 3812 c.3813C>T c.(3811-3813)gaC>gaT p.D1271D ABCC9_ENST00000345162.2_Silent_p.D1235D|ABCC9_ENST00000261201.4_Silent_p.D1271D NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1271 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGACCTCCAGGTCAGCCAAGT 0.368000 16 179 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048157 180048157 + Missense_Mutation SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr5:180048157C>T ENST00000261937.6 - 14 2194 c.2116G>A c.(2116-2118)Gcg>Acg p.A706T FLT4_ENST00000502649.1_Missense_Mutation_p.A706T|FLT4_ENST00000393347.3_Missense_Mutation_p.A706T|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 706 Ig-like C2-type 7. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ATGCTGGGCGCGTGCGCTCCG 0.667000 7 80 0 0 1 0 0 EXOC7 23265 broad.mit.edu 37 17 74084631 74084631 + Missense_Mutation SNP T T C TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr17:74084631T>C ENST00000607838.1 - 11 1376 c.1282A>G c.(1282-1284)Agc>Ggc p.S428G EXOC7_ENST00000411744.2_Missense_Mutation_p.S397G|EXOC7_ENST00000405575.4_Missense_Mutation_p.S428G|EXOC7_ENST00000589210.1_Missense_Mutation_p.S405G|EXOC7_ENST00000335146.7_Missense_Mutation_p.S456G|EXOC7_ENST00000332065.5_Missense_Mutation_p.S374G|EXOC7_ENST00000467929.2_Missense_Mutation_p.S364G NM_001145297.2|NM_001145298.2|NM_001145299.2 NP_001138769.1|NP_001138770.1|NP_001138771.1 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 456 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 14 LUSC - Lung squamous cell carcinoma(166;0.187) TTCTTTGTGCTGGCAGCCGTG 0.597000 5 35 0 0 1 0 0 RLN1 6013 broad.mit.edu 37 9 5339569 5339569 + Missense_Mutation SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr9:5339569C>T ENST00000223858.4 - 1 304 c.178G>A c.(178-180)Gaa>Aaa p.E60K RLN1_ENST00000223862.1_Missense_Mutation_p.E60K P04808 REL1_HUMAN relaxin 1 60 female pregnancy|signal transduction extracellular region hormone activity large_intestine(1)|lung(4) 5 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984) GGAGCATCTTCCTGGCTCAGA 0.587000 3 43 0 0 1 0 0 CNOT6L 246175 broad.mit.edu 37 4 78694313 78694313 + Missense_Mutation SNP G G A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr4:78694313G>A ENST00000504123.1 - 4 452 c.322C>T c.(322-324)Ctt>Ttt p.L108F CNOT6L_ENST00000264903.4_Missense_Mutation_p.L108F|CNOT6L_ENST00000506166.1_5'UTR Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 108 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 TTATTTAAAAGCAATTCCCTG 0.299000 5 23 0 0 1 0 0 GPR152 390212 broad.mit.edu 37 11 67219491 67219491 + Silent SNP G G A rs78290792 TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr11:67219491G>A ENST00000312457.2 - 1 709 c.705C>T c.(703-705)ttC>ttT p.F235F NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 235 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCACACGGGCGAAGCCCCGGC 0.662000 5 48 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237993860 237993860 + Missense_Mutation SNP G G A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr1:237993860G>A ENST00000366574.2 + 103 15003 c.14686G>A c.(14686-14688)Gat>Aat p.D4896N RYR2_ENST00000360064.6_Missense_Mutation_p.D4902N|RYR2_ENST00000542537.1_Missense_Mutation_p.D4880N|RYR2_ENST00000462585.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4896 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATAGGCAATGATTACTTCGA 0.423000 18 176 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44539816 44539816 + Missense_Mutation SNP C C A rs139898818 byFrequency TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr20:44539816C>A ENST00000542937.1 - 2 769 c.235G>T c.(235-237)Ggc>Tgc p.G79C PLTP_ENST00000420868.2_Missense_Mutation_p.G59C|PLTP_ENST00000477313.1_Missense_Mutation_p.G59C|PLTP_ENST00000354050.4_Missense_Mutation_p.G59C|PLTP_ENST00000372431.3_Missense_Mutation_p.G59C P55058 PLTP_HUMAN phospholipid transfer protein 59 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) TAGAAGTGGCCTTCTTTGCCC 0.617000 15 158 7.07596e-05 7.07596e-05 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18022676 18022676 + Missense_Mutation SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr17:18022676C>T ENST00000205890.5 + 2 900 c.562C>T c.(562-564)Cgg>Tgg p.R188W NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 188 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GGGCCGGCTCCGGAGGTTCCC 0.711000 25 44 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21501533 21501533 + Missense_Mutation SNP A A G TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr18:21501533A>G ENST00000313654.9 + 62 8402 c.8161A>G c.(8161-8163)Att>Gtt p.I2721V LAMA3_ENST00000587184.1_Missense_Mutation_p.I1056V|LAMA3_ENST00000399516.3_Missense_Mutation_p.I2665V|LAMA3_ENST00000269217.6_Missense_Mutation_p.I1112V|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2721 Laminin G-like 2. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGAATTCCAATTGCAATCAG 0.333000 9 121 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148889914 148889914 + Silent SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr3:148889914C>T ENST00000296051.2 + 17 3060 c.2920C>T c.(2920-2922)Ctg>Ttg p.L974L HPS3_ENST00000460120.1_Silent_p.L809L NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 974 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GGAACTAGAACTGAAGGATTT 0.343000 Hermansky-Pudlak syndrome 20 51 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120797843 120797843 + Missense_Mutation SNP T T A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr10:120797843T>A ENST00000369144.3 - 20 3762 c.3635A>T c.(3634-3636)gAt>gTt p.D1212V EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.D1178V NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1212 Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) atcttgattatctctgtccct 0.488000 8 179 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4148017 4148017 + Missense_Mutation SNP G G A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr11:4148017G>A ENST00000300738.5 + 13 1628 c.1424G>A c.(1423-1425)cGa>cAa p.R475Q RRM1_ENST00000537197.1_Missense_Mutation_p.R137Q|RRM1_ENST00000534285.1_Missense_Mutation_p.R253Q|RRM1_ENST00000423050.2_Missense_Mutation_p.R378Q NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 475 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) GTCGTTGTCCGAAACTTGAAT 0.353000 3 38 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11217709 11217709 + Silent SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr16:11217709C>T ENST00000409790.1 + 21 2609 c.2379C>T c.(2377-2379)ttC>ttT p.F793F CLEC16A_ENST00000409552.3_Silent_p.F775F|CLEC16A_ENST00000465491.1_3'UTR NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 793 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AGGCCACCTTCATCTTCTCAG 0.602000 9 88 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147863844 147863844 + Missense_Mutation SNP G G T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr5:147863844G>T ENST00000360693.3 - 7 1313 c.1175C>A c.(1174-1176)aCt>aAt p.T392N HTR4_ENST00000314512.6_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000377888.3_Intron NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 359 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) cttccttgcagtcaaacatcT 0.413000 11 38 3.86212e-05 3.97571e-05 1 1 0 TTC9B 148014 broad.mit.edu 37 19 40722102 40722102 + Missense_Mutation SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr19:40722102C>T ENST00000311308.6 - 3 705 c.688G>A c.(688-690)Gct>Act p.A230T NM_152479.5 NP_689692.2 Q8N6N2 TTC9B_HUMAN tetratricopeptide repeat domain 9B 230 binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2) 5 TGGGACCCAGCCCCACTGTCT 0.602000 10 148 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996442 140996442 + Silent SNP A A G TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chrX:140996442A>G ENST00000285879.4 + 4 3538 c.3252A>G c.(3250-3252)gtA>gtG p.V1084V MAGEC1_ENST00000406005.2_Silent_p.V151V NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1084 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGAAAGTAGTAGAGTTTT 0.458000 HNSCC(15;0.026) 100 233 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79354580 79354580 + Silent SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr5:79354580C>T ENST00000350881.2 + 5 889 c.699C>T c.(697-699)ctC>ctT p.L233L CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.L142L NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 233 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TAAACCAACTCCTGGGAGAGG 0.483000 5 66 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113803380 113803380 + Missense_Mutation SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr13:113803380C>T ENST00000375559.3 + 8 1054 c.1016C>T c.(1015-1017)gCg>gTg p.A339V F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR NM_000504.3 NP_000495.1 P00742 FA10_HUMAN coagulation factor X 339 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGAACGTGGCGCCTGCCTGC 0.637000 47 118 0 0 1 0 0 NSMAF 8439 broad.mit.edu 37 8 59511805 59511805 + Missense_Mutation SNP A A C TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr8:59511805A>C ENST00000038176.3 - 19 1783 c.1571T>G c.(1570-1572)gTt>gGt p.V524G NSMAF_ENST00000427130.2_Missense_Mutation_p.V555G NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 524 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) ATGGGCCCCAACTGCATCACT 0.338000 24 192 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66434551 66434551 + Silent SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr3:66434551C>T ENST00000273261.3 - 14 2459 c.1935G>A c.(1933-1935)gaG>gaA p.E645E SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Intron NM_015541.2 NP_056356.2 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 645 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCATGCGTCGCTCACGGGCAG 0.567000 11 176 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7188364 7188364 + Missense_Mutation SNP C C A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr12:7188364C>A ENST00000542285.1 - 11 1583 c.1434G>T c.(1432-1434)atG>atT p.M478I P00736 C1R_HUMAN complement component 1, r subcomponent 530 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TTCCTAGCTTCATGAGCTCTT 0.567000 16 184 3.41278e-10 3.61962e-10 1 1 0 MYBL2 4605 broad.mit.edu 37 20 42331451 42331451 + Missense_Mutation SNP G G A TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr20:42331451G>A ENST00000217026.4 + 8 1400 c.1273G>A c.(1273-1275)Gag>Aag p.E425K MYBL2_ENST00000396863.4_Missense_Mutation_p.E401K NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 425 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CCCTGTCACTGAGAATAGCAC 0.612000 13 98 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098827 11098827 + RNA SNP C C T rs79274499 by1000genomes TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr21:11098827C>T ENST00000470054.1 - 0 98 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) ccatccagagcgagacgagcc 0.637000 5 46 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 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 34 71 0 0 1 0 0 PLA2R1 0 broad.mit.edu 37 2 160798656 160798656 + Missense_Mutation SNP C C T TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr2:160798656C>T ENST00000283243.7 - 29 4365 c.4159G>A c.(4159-4161)Gag>Aag p.E1387K PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1387 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GGCAGCGCCTCTGCAGTGTGA 0.299000 7 65 0 0 1 0 0 RP13-329D4.3 0 broad.mit.edu 37 20 26113740 26113740 + RNA DEL T T - TCGA-H2-A421-01A-11D-A23M-08 TCGA-H2-A421-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx f73669e7-349b-4f1a-8818-c10f6d8bde28 145a6295-3c83-484f-861b-575fff8d3789 g.chr20:26113740delT ENST00000416563.1 - 0 160 CCAGAAAAAATATGTGAGAGA 0.343 5 1 --- --- --- ---