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 TTN 7273 broad.mit.edu 37 2 179611913 179611913 + Silent SNP T T G TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr2:179611913T>G ENST00000360870.5 - 46 15436 c.15214A>C c.(15214-15216)Aga>Cga p.R5072R TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1179 Ig-like 31. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGGAGTATCTCTCTAGAGTC 0.532000 4 79 0 0 1 0 0 LIPK 643414 broad.mit.edu 37 10 90490787 90490787 + Missense_Mutation SNP A A G TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr10:90490787A>G ENST00000404190.1 + 3 271 c.271A>G c.(271-273)Agt>Ggt p.S91G NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 91 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TGCATCTGCCAGTAACTGGAT 0.458000 4 6 0 0 1 0 0 PHLPP1 23239 broad.mit.edu 37 18 60645971 60645971 + Silent SNP C C T TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr18:60645971C>T ENST00000400316.4 + 17 4706 c.2925C>T c.(2923-2925)agC>agT p.S975S PHLPP1_ENST00000262719.5_Silent_p.S1487S NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1487 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CTGAGATGAGCAGCGAGGTGG 0.642000 3 19 0 0 1 0 0 GRIA4 0 broad.mit.edu 37 11 105732820 105732820 + Silent SNP G G T TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr11:105732820G>T ENST00000393127.2 + 5 1004 c.558G>T c.(556-558)gtG>gtT p.V186V GRIA4_ENST00000530497.1_Silent_p.V186V|GRIA4_ENST00000282499.5_Silent_p.V186V|GRIA4_ENST00000525187.1_Silent_p.V186V|GRIA4_ENST00000428631.2_Silent_p.V186V|GRIA4_ENST00000393125.2_Silent_p.V186V NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 186 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTATATGTGTGGAAAATTTTA 0.358000 10 31 5.50884e-06 5.9169e-06 1 1 0 PRB4 5545 broad.mit.edu 37 12 11461589 11461589 + Missense_Mutation SNP A A G TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr12:11461589A>G ENST00000279575.1 - 3 361 c.328T>C c.(328-330)Tcc>Ccc p.S110P PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 152 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GTACCTTGGGACTGGTTTCCT 0.602000 HNSCC(22;0.051) 6 366 0 0 1 0 0 RIMS1 0 broad.mit.edu 37 6 73110295 73110295 + Missense_Mutation SNP T T A TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr6:73110295T>A ENST00000264839.7 + 30 4505 c.4505T>A c.(4504-4506)aTc>aAc p.I1502N RIMS1_ENST00000491071.2_Missense_Mutation_p.I1442N|RIMS1_ENST00000521978.1_Missense_Mutation_p.I1653N|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.I787N|RIMS1_ENST00000348717.5_Missense_Mutation_p.I1436N|RIMS1_ENST00000517960.1_Missense_Mutation_p.I1436N|RIMS1_ENST00000538414.1_Missense_Mutation_p.I459N|RIMS1_ENST00000425662.2_Missense_Mutation_p.I721N|RIMS1_ENST00000523963.1_Missense_Mutation_p.I778N|RIMS1_ENST00000401910.3_Missense_Mutation_p.I973N|RIMS1_ENST00000414192.2_Missense_Mutation_p.I180N|RIMS1_ENST00000518273.1_Missense_Mutation_p.I1332N|RIMS1_ENST00000520567.1_Missense_Mutation_p.I1303N|RIMS1_ENST00000522291.1_Missense_Mutation_p.I1252N Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1653 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGCATGGTGATCGGATGGTAC 0.537000 28 43 0 0 1 0 0 AGFG1 3267 broad.mit.edu 37 2 228399693 228399693 + Missense_Mutation SNP C C A TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr2:228399693C>A ENST00000310078.7 + 8 1417 c.1157C>A c.(1156-1158)tCt>tAt p.S386Y AGFG1_ENST00000409315.1_Missense_Mutation_p.S365Y|AGFG1_ENST00000409979.2_Missense_Mutation_p.S410Y|AGFG1_ENST00000373671.3_Missense_Mutation_p.S346Y|AGFG1_ENST00000409171.1_Missense_Mutation_p.S386Y NM_001135188.1|NM_004504.4 NP_001128660.1|NP_004495.2 P52594 AGFG1_HUMAN ArfGAP with FG repeats 1 386 cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1) 18 GTTTTCAGTTCTGCAGCCACC 0.453000 22 47 4.72057e-08 5.26525e-08 1 1 0 TRIM11 81559 broad.mit.edu 37 1 228588714 228588714 + Missense_Mutation SNP A A T TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr1:228588714A>T ENST00000493030.2 - 2 4020 c.311T>A c.(310-312)aTc>aAc p.I104N TRIM11_ENST00000366699.3_Missense_Mutation_p.I229N|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.I229N Q96F44 TRI11_HUMAN tripartite motif containing 11 229 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GAGCTCGGCGATGAGCTCAGC 0.721000 7 9 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242063411 242063411 + Missense_Mutation SNP A A G TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr2:242063411A>G ENST00000403638.3 - 11 2948 c.2857T>C c.(2857-2859)Tcc>Ccc p.S953P PASK_ENST00000405260.1_Missense_Mutation_p.S953P|PASK_ENST00000544142.1_Missense_Mutation_p.S767P|PASK_ENST00000539818.1_Missense_Mutation_p.S737P|PASK_ENST00000358649.4_Missense_Mutation_p.S953P|PASK_ENST00000234040.4_Missense_Mutation_p.S953P NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 953 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GAGTGGGTGGAGCCGGGCAGG 0.622000 3 43 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76427339 76427339 + Missense_Mutation SNP T T A TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr13:76427339T>A ENST00000357063.3 + 29 5892 c.4632T>A c.(4630-4632)agT>agA p.S1544R LMO7_ENST00000526202.1_Missense_Mutation_p.S1136R|LMO7_ENST00000321797.8_Missense_Mutation_p.S1259R|LMO7_ENST00000377534.3_Missense_Mutation_p.S1544R|LMO7_ENST00000465261.2_Missense_Mutation_p.S1259R|LMO7_ENST00000341547.4_Missense_Mutation_p.S1210R Q8WWI1 LMO7_HUMAN LIM domain 7 1544 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAGACTTTAGTCGCCCACCAC 0.567000 19 28 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784098 9784098 + Missense_Mutation SNP A A G rs138634841 TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr4:9784098A>G ENST00000304374.2 + 1 841 c.445A>G c.(445-447)Aag>Gag p.K149E NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 149 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.K149E(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CTTCCGCTACAAGCGCAAGAT 0.597000 3 25 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907980 12907980 + Missense_Mutation SNP C C T TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr1:12907980C>T ENST00000317869.6 - 2 388 c.163G>A c.(163-165)Gtt>Att p.V55I NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 p.V55I(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCATATTGAACGAAGGCAAAG 0.473000 23 147 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26448653 26448653 + Missense_Mutation SNP C C A TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr6:26448653C>A ENST00000244519.2 + 6 1136 c.893C>A c.(892-894)aCa>aAa p.T298K BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256K|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256K NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 298 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 TACGCTGCAACAGAGCAAGAA 0.498000 16 21 2.32078e-09 2.69211e-09 1 1 0 PRB4 5545 broad.mit.edu 37 12 11461583 11461583 + Missense_Mutation SNP C C G TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr12:11461583C>G ENST00000279575.1 - 3 367 c.334G>C c.(334-336)Ggt>Cgt p.G112R PRB4_ENST00000445719.2_Splice_Site_p.G112_splice|PRB4_ENST00000535904.1_Missense_Mutation_p.G112R NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 154 9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G. extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 GGTGGGGTACCTTGGGACTGG 0.607000 HNSCC(22;0.051) 6 365 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1017526 1017526 + Missense_Mutation SNP G G C TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr11:1017526G>C ENST00000421673.2 - 31 5325 c.5275C>G c.(5275-5277)Cct>Gct p.P1759A NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1759 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGACTTCAGGATGGTGTGTG 0.562000 7 848 0 0 1 0 0 AKR7L 246181 broad.mit.edu 37 1 19596156 19596156 + RNA SNP G G T rs6665756 by1000genomes TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr1:19596156G>T ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCTGCCGGGTGGTGGCGCTGT 0.562000 3 40 0.004672 0.00483886 1 1 0 TPO 7173 broad.mit.edu 37 2 1497756 1497756 + Missense_Mutation SNP C C T TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr2:1497756C>T ENST00000345913.4 + 11 2042 c.1951C>T c.(1951-1953)Ccc>Tcc p.P651S TPO_ENST00000382198.1_Missense_Mutation_p.P478S|TPO_ENST00000382201.3_Missense_Mutation_p.P594S|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.P478S|TPO_ENST00000346956.3_Missense_Mutation_p.P651S|TPO_ENST00000337415.3_Missense_Mutation_p.P651S|TPO_ENST00000329066.4_Missense_Mutation_p.P651S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 651 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCGGACAGGGCCCCTGTTTGC 0.567000 16 26 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105413628 105413628 + Silent SNP G G A TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr14:105413628G>A ENST00000333244.5 - 7 8279 c.8160C>T c.(8158-8160)caC>caT p.H2720H AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2720 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCTCGGGAACGTGGCCCTCTG 0.597000 83 96 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 14028333 14028333 + Missense_Mutation SNP C C T TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr7:14028333C>T ENST00000405358.4 - 1 165 c.59G>A c.(58-60)gGg>gAg p.G20E ETV1_ENST00000430479.1_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000405218.2_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000242066.5_Intron P50549 ETV1_HUMAN ets variant 1 0 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCAGACAAACCCAGCCAAAAA 0.388000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 37 68 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 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 16 31 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233347145 233347145 + Silent SNP G G A TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr2:233347145G>A ENST00000304546.1 - 12 1989 c.1779C>T c.(1777-1779)taC>taT p.Y593Y ECEL1_ENST00000409941.1_Silent_p.Y591Y NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 593 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) AGTCAGGGTCGTACAGGGTGG 0.617000 48 77 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr22:42538870A>C ENST00000433992.1 - 0 475 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 4 27 0 0 1 0 0 RASSF8 11228 broad.mit.edu 37 12 26220530 26220530 + Missense_Mutation SNP C C G TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr12:26220530C>G ENST00000405154.2 + 4 1221 c.1022C>G c.(1021-1023)aCt>aGt p.T341S RASSF8_ENST00000282884.9_Missense_Mutation_p.T341S|RASSF8_ENST00000542865.1_Missense_Mutation_p.T341S|RASSF8_ENST00000541490.1_Missense_Mutation_p.T341S|RASSF8_ENST00000381352.3_Missense_Mutation_p.T341S NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 341 signal transduction cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) GAGCAGTTGACTAAGGAGTTG 0.433000 3 34 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47805846 47805846 + Missense_Mutation SNP G G A TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr21:47805846G>A ENST00000359568.5 + 17 3519 c.3412G>A c.(3412-3414)Gca>Aca p.A1138T PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1138 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCGGGAAGGCGCAAACCTCCT 0.612000 5 97 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 7 154 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 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) AGATAGTGGCAGGGAAATTTTT 0.391 12 82 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 6 11 --- --- --- --- FBXL8 55336 broad.mit.edu 37 16 67196927 67196929 + In_Frame_Del DEL GCC GCC - TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr16:67196927_67196929delGCC ENST00000258200.3 + 3 506_508 c.329_331delGCC c.(328-333)tgc>t p.CR110del FBXL8_ENST00000519917.1_In_Frame_Del_p.CR110del Q96CD0 FBXL8_HUMAN F-box and leucine-rich repeat protein 8 110 protein binding endometrium(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185) CGCCTGGAGTGCCGCGGAGAAAA 0.714 2 4 --- --- --- --- hsa-mir-6080 0 broad.mit.edu 37 17 62775108 62775108 + RNA DEL C C - TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr17:62775108delC ENST00000400873.3 - 0 1019 NR_026899.1 CCACGCGGCGCCCGTCCTTGC 0.701 2 4 --- --- --- --- CBR3-AS1 0 broad.mit.edu 37 21 37505260 37505260 + RNA DEL A A - TCGA-EM-A4FN-01A-11D-A257-08 TCGA-EM-A4FN-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx add94e55-aefe-4e63-8a5e-142dd824f46d 0c74daf3-b58e-40e5-8058-030dbe42c407 g.chr21:37505260delA ENST00000413862.1 - 0 366 CBR3-AS1_ENST00000453159.1_RNA NR_038892.1 AACCCCAGCCACGTGAAGAGG 0.577 2 4 --- --- --- ---