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 PDE5A 8654 broad.mit.edu 37 4 120463753 120463753 + Missense_Mutation SNP G G C TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr4:120463753G>C ENST00000354960.3 - 10 1752 c.1433C>G c.(1432-1434)aCt>aGt p.T478S RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.T436S|PDE5A_ENST00000394439.1_Missense_Mutation_p.T426S|PDE5A_ENST00000512739.1_5'UTR NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 478 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AACCTTGCCAGTATTCTCCTC 0.388000 33 56 0 0 0.005524 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 4 46 0 0 0.000602 0 0 SLC9B2 133308 broad.mit.edu 37 4 103988620 103988620 + Nonsense_Mutation SNP G G A TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr4:103988620G>A ENST00000394785.3 - 2 719 c.88C>T c.(88-90)Cag>Tag p.Q30* SLC9B2_ENST00000362026.3_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503103.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000339611.4_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000503230.1_Nonsense_Mutation_p.Q30*|SLC9B2_ENST00000505838.1_5'UTR NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 30 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity AGATTTACCTGTGCTTCTTGA 0.368000 5 85 0 0 0.001168 0 0 BCAS3 54828 broad.mit.edu 37 17 59024649 59024649 + Missense_Mutation SNP G G C TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr17:59024649G>C ENST00000589222.1 + 14 1225 c.1157G>C c.(1156-1158)tGg>tCg p.W386S BCAS3_ENST00000407086.3_Missense_Mutation_p.W386S|BCAS3_ENST00000588874.1_Missense_Mutation_p.W157S|BCAS3_ENST00000408905.3_Missense_Mutation_p.W386S|BCAS3_ENST00000585744.1_Missense_Mutation_p.W157S|BCAS3_ENST00000588462.1_Missense_Mutation_p.W386S|BCAS3_ENST00000390652.5_Missense_Mutation_p.W386S Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 386 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) ACTCATCCTTGGTCCTCATCA 0.413000 7 209 0 0 0.003080 0 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 4 79 0 0 0.000248 0 0 KCNG2 26251 broad.mit.edu 37 18 77659600 77659600 + Silent SNP G G A TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr18:77659600G>A ENST00000316249.3 + 2 1185 c.1185G>A c.(1183-1185)ctG>ctA p.L395L KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 395 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GCGGCATCCTGCTCATGGCCT 0.692000 7 73 0 0 0.001984 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497638 1497638 + Missense_Mutation SNP T T C TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr8:1497638T>C ENST00000421627.2 + 2 913 c.779T>C c.(778-780)cTc>cCc p.L260P NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 339 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GACCTGTCCCTCAAGACCTCC 0.667000 3 127 0 0 0.004672 0 0 PDPN 10630 broad.mit.edu 37 1 13936955 13936955 + Missense_Mutation SNP C C T TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr1:13936955C>T ENST00000294489.6 + 3 844 c.503C>T c.(502-504)gCg>gTg p.A168V PDPN_ENST00000376061.4_Missense_Mutation_p.A50V|PDPN_ENST00000376057.4_Missense_Mutation_p.A168V|PDPN_ENST00000509009.1_Missense_Mutation_p.A87V|PDPN_ENST00000513143.1_Missense_Mutation_p.A50V|PDPN_ENST00000475043.1_Missense_Mutation_p.A50V|PDPN_ENST00000487038.1_Missense_Mutation_p.A50V Q86YL7 PDPN_HUMAN podoplanin 92 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane p.A168V(1) endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) ACAGTCCACGCGCAAGAACAA 0.507000 5 121 0 0 0.001984 0 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 3 27 0 0 0.000602 0 0 WDR52 55779 broad.mit.edu 37 3 113115480 113115480 + Missense_Mutation SNP G G A rs145391746 TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr3:113115480G>A ENST00000393845.2 - 14 1730 c.1664C>T c.(1663-1665)gCg>gTg p.A555V WDR52_ENST00000475568.1_5'UTR|WDR52_ENST00000295868.2_Missense_Mutation_p.A555V NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 555 breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 CTTCCGTCCCGCAAAAATCGT 0.398000 4 78 0 0 0.000248 0 0 LRRN4 164312 broad.mit.edu 37 20 6022440 6022440 + Missense_Mutation SNP C C T TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr20:6022440C>T ENST00000378858.4 - 5 1675 c.1451G>A c.(1450-1452)gGc>gAc p.G484D NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 484 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 AGGGAAGGGGCCCAGGAGCTT 0.657000 45 115 0 0 0.002222 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 51 0 0 0.000602 0 0 TG 7038 broad.mit.edu 37 8 133883736 133883736 + Missense_Mutation SNP T T G TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr8:133883736T>G ENST00000220616.4 + 4 458 c.418T>G c.(418-420)Tgt>Ggt p.C140G TG_ENST00000377869.1_Missense_Mutation_p.C140G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 140 Thyroglobulin type-1 2. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCAGTGCTGGTGTGTGGACGC 0.597000 27 50 0 0 0.005443 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57075943 57075943 + Silent SNP G G A TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr11:57075943G>A ENST00000532437.1 - 5 4553 c.4242C>T c.(4240-4242)taC>taT p.Y1414Y TNKS1BP1_ENST00000358252.3_Silent_p.Y1414Y Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 1414 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AAGACGAGGAGTAATCTTCAC 0.602000 130 287 0 0 0.003610 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725653 32725653 + Silent SNP C C T rs144961216 TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr6:32725653C>T ENST00000435145.2 - 4 715 c.654G>A c.(652-654)caG>caA p.Q218Q HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Silent_p.Q218Q Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 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 CAGATTCAGACTGAGCCCCTA 0.557000 4 22 0 0 0.000602 0 0 MYH6 4624 broad.mit.edu 37 14 23866411 23866411 + Missense_Mutation SNP C C T TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr14:23866411C>T ENST00000405093.3 - 17 2088 c.2018G>A c.(2017-2019)cGt>cAt p.R673H MYH6_ENST00000356287.3_Missense_Mutation_p.R673H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 673 Actin-binding.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R673H(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GATGATGCAACGCACAAAGTG 0.542000 64 138 0 0 0.003610 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 5 56 0 0 0.000602 0 0 NEK8 284086 broad.mit.edu 37 17 27068491 27068491 + Missense_Mutation SNP A A G TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr17:27068491A>G ENST00000268766.6 + 14 1986 c.1952A>G c.(1951-1953)gAt>gGt p.D651G AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 651 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) AGGGATGAGGATGCCGGACTC 0.592000 26 52 0 0 0.003954 0 0 HERC2P2 0 broad.mit.edu 37 15 23331163 23331163 + RNA DEL A A - TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr15:23331163delA ENST00000560464.1 - 0 908 AATAAATACTAAAAAAAAAAA 0.368 4 9 --- --- --- --- ITGAL 0 broad.mit.edu 37 16 30495432 30495432 + Splice_Site DEL A A - TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr16:30495432delA ENST00000356798.6 + 9 1035 c.e9-1 ITGAL_ENST00000454514.2_Splice_Site|ITGAL_ENST00000358164.5_Splice_Site|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) ACTCCCTCACAGATTGGAAAG 0.488 82 147 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 5 --- --- --- --- TBC1D3P1-DHX40P1 0 broad.mit.edu 37 17 58090681 58090681 + RNA DEL T T - TCGA-EM-A3AO-01A-11D-A202-08 TCGA-EM-A3AO-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0fcc88f7-6d11-4c1f-8267-639d9460860b a6b37086-7f13-4a9d-bfb8-bdd5e53eb4bb g.chr17:58090681delT ENST00000407042.3 - 0 609 CTCTGAATGATTTTTTTTTTT 0.458 2 4 --- --- --- ---