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 SC5D 6309 broad.mit.edu 37 11 121178150 121178150 + Missense_Mutation SNP C C T rs118099079 by1000genomes TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr11:121178150C>T ENST00000264027.4 + 5 1203 c.829C>T c.(829-831)Cgc>Tgc p.R277C SC5D_ENST00000392789.2_Missense_Mutation_p.R277C|SC5D_ENST00000534230.1_Intron NM_006918.4 NP_008849.2 sterol-C5-desaturase AGAGGGAAAGCGCAGCAGCCA 0.413000 11 23 0 0 0.000978159 0 0 CD19 930 broad.mit.edu 37 16 28943670 28943670 + Missense_Mutation SNP G G A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr16:28943670G>A ENST00000538922.1 + 2 154 c.92G>A c.(91-93)gGa>gAa p.G31E CD19_ENST00000324662.3_Missense_Mutation_p.G31E|CD19_ENST00000567541.1_Missense_Mutation_p.G31E NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 31 Ig-like C2-type 1. cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 TCCACAGAGGGAGATAACGCT 0.592000 11 14 0 0 0.000673444 0 0 GPR112 139378 broad.mit.edu 37 X 135427555 135427555 + Missense_Mutation SNP T T A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chrX:135427555T>A ENST00000394143.1 + 6 1981 c.1690T>A c.(1690-1692)Tca>Aca p.S564T GPR112_ENST00000412101.1_Missense_Mutation_p.S359T|GPR112_ENST00000394141.1_Missense_Mutation_p.S359T|GPR112_ENST00000370652.1_Missense_Mutation_p.S564T|GPR112_ENST00000287534.4_Missense_Mutation_p.S501T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 564 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AACATCCTTTTCATTTACTGG 0.418000 12 46 0 0 0.00136819 0 0 MYO3A 53904 broad.mit.edu 37 10 26463096 26463096 + Missense_Mutation SNP G G A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr10:26463096G>A ENST00000265944.5 + 30 4069 c.3903G>A c.(3901-3903)atG>atA p.M1301I MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1301 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAACAGCATGGAAAAAGAAA 0.453000 23 17 0 0 0.000375601 0 0 DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G G C TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr12:31237922G>C ENST00000251758.5 + 5 751 c.500G>C c.(499-501)aGa>aCa p.R167T DDX11_ENST00000545668.1_Missense_Mutation_p.R167T|DDX11_ENST00000407793.2_Missense_Mutation_p.R167T|DDX11_ENST00000542838.1_Missense_Mutation_p.R167T|DDX11_ENST00000350437.4_Missense_Mutation_p.R167T|DDX11_ENST00000228264.6_Missense_Mutation_p.R141T Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding p.R167T(11) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612000 Multiple Myeloma(12;0.14) 3 16 0 0 6.4e-05 0 0 KRT10 3858 broad.mit.edu 37 17 38976882 38976882 + Missense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:38976882C>T ENST00000269576.5 - 3 757 c.748G>A c.(748-750)Gct>Act p.A250T TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 250 Coil 1B.|Gly-rich.|Rod. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) TTGATGTCAGCCTCCACGCTC 0.507000 23 31 0 0 0.000375601 0 0 GABRE 2564 broad.mit.edu 37 X 151128359 151128359 + Missense_Mutation SNP C C A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chrX:151128359C>A ENST00000370325.1 - 6 789 c.736G>T c.(736-738)Gat>Tat p.D246Y GABRE_ENST00000393914.3_Missense_Mutation_p.D53Y|GABRE_ENST00000370328.3_Missense_Mutation_p.D246Y P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 246 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCTGTAAAATCAAACTGGAAG 0.443000 31 64 2.80507e-11 1.92486e-10 0.000409698 1 0 PCDHB5 26167 broad.mit.edu 37 5 140516880 140516880 + Missense_Mutation SNP G G A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr5:140516880G>A ENST00000231134.5 + 1 2081 c.1864G>A c.(1864-1866)Gag>Aag p.E622K NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 622 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCACAATGGCGAGGTGCGCAC 0.706000 27 23 0 0 0.000878237 0 0 OR2B11 127623 broad.mit.edu 37 1 247614382 247614382 + Missense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr1:247614382C>T ENST00000318749.6 - 1 926 c.903G>A c.(901-903)atG>atA p.M301I NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GAGCCCCCTTCATATCTTTAT 0.468000 71 168 0 0 0.000781405 0 0 HJURP 55355 broad.mit.edu 37 2 234749833 234749833 + Missense_Mutation SNP G G T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr2:234749833G>T ENST00000411486.2 - 8 1658 c.1593C>A c.(1591-1593)caC>caA p.H531Q HJURP_ENST00000441687.1_Missense_Mutation_p.H446Q|HJURP_ENST00000432087.1_Missense_Mutation_p.H477Q NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 531 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) GAGTTGCGCTGTGTGTGGGGT 0.488000 27 36 0.000117367 0.000729876 0.000878237 1 0 RYR1 6261 broad.mit.edu 37 19 39001158 39001158 + Nonsense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr19:39001158C>T ENST00000355481.4 + 59 9084 c.8953C>T c.(8953-8955)Cga>Tga p.R2985* RYR1_ENST00000359596.3_Nonsense_Mutation_p.R2985*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.R2985* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2985 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CAGCAGTGGGCGAGTGGAAAA 0.567000 19 40 0 0 0.000958276 0 0 MBTD1 54799 broad.mit.edu 37 17 49279428 49279428 + Silent SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:49279428C>T ENST00000586178.1 - 11 1417 c.1074G>A c.(1072-1074)aaG>aaA p.K358K MBTD1_ENST00000376381.2_Silent_p.K358K|MBTD1_ENST00000415868.1_Silent_p.K358K NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 358 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CATCCTGTTTCTTTGTAATAT 0.343000 12 31 0 0 0.000308642 0 0 FAM134C 162427 broad.mit.edu 37 17 40761321 40761321 + Missense_Mutation SNP G G C TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:40761321G>C ENST00000309428.5 - 1 81 c.22C>G c.(22-24)Ccc>Gcc p.P8A FAM134C_ENST00000543197.1_5'UTR|FAM134C_ENST00000585894.1_Intron NM_178126.3 NP_835227.1 Q86VR2 F134C_HUMAN family with sequence similarity 134, member C 8 integral to membrane endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 11 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) GGGGTCGTGGGAACCCCTTCG 0.687000 13 33 0 0 0.000219431 0 0 HSF5 124535 broad.mit.edu 37 17 56565264 56565264 + Silent SNP G G A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:56565264G>A ENST00000323777.3 - 1 481 c.372C>T c.(370-372)ctC>ctT p.L124L NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGAGGTGCACGAGCAGCTGTG 0.711000 5 43 0 0 0.000157383 0 0 MAP1B 4131 broad.mit.edu 37 5 71491677 71491677 + Missense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr5:71491677C>T ENST00000296755.7 + 5 2793 c.2495C>T c.(2494-2496)tCt>tTt p.S832F NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 832 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTTATGTCATCTCCTGAGGAT 0.522000 6 54 0 0 0.00116845 0 0 FAT3 120114 broad.mit.edu 37 11 92523221 92523221 + Missense_Mutation SNP A A C TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr11:92523221A>C ENST00000298047.6 + 7 4465 c.4448A>C c.(4447-4449)gAa>gCa p.E1483A FAT3_ENST00000525166.1_Missense_Mutation_p.E1333A|FAT3_ENST00000409404.2_Missense_Mutation_p.E1483A Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1483 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGCAGATTGAAGCCACAGAT 0.473000 TCGA Ovarian(4;0.039) 127 184 0 0 0.000781405 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 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 32 10 0 0 0.000953801 0 0 MYO3A 53904 broad.mit.edu 37 10 26463097 26463097 + Missense_Mutation SNP G G A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr10:26463097G>A ENST00000265944.5 + 30 4070 c.3904G>A c.(3904-3906)Gaa>Aaa p.E1302K MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1302 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AAACAGCATGGAAAAAGAAAA 0.448000 24 16 0 0 0.00047179 0 0 TMEM139 135932 broad.mit.edu 37 7 142983274 142983274 + Missense_Mutation SNP C C A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr7:142983274C>A ENST00000359333.3 + 2 737 c.224C>A c.(223-225)cCa>cAa p.P75Q TMEM139_ENST00000409244.1_Missense_Mutation_p.P75Q|TMEM139_ENST00000471161.1_Intron|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409541.1_Missense_Mutation_p.P75Q|TMEM139_ENST00000410004.1_Missense_Mutation_p.P75Q|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000409102.1_Missense_Mutation_p.P75Q NM_001242775.1 NP_001229704.1 Q8IV31 TM139_HUMAN transmembrane protein 139 75 integral to membrane endometrium(1)|lung(4)|ovary(1)|prostate(1) 7 Melanoma(164;0.059) ACTGAGAGCCCAGGGCCCTCA 0.557000 18 32 2.4624e-09 1.63339e-08 0.00121646 1 0 GRM3 2913 broad.mit.edu 37 7 86468997 86468997 + Missense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr7:86468997C>T ENST00000361669.2 + 4 3266 c.2167C>T c.(2167-2169)Cgg>Tgg p.R723W GRM3_ENST00000546348.1_Missense_Mutation_p.R315W|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R595W NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 723 synaptic transmission integral to plasma membrane p.R723W(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGCAGAGAAGCGGGAAACAGT 0.493000 30 10 0 0 0.00106085 0 0 SENP2 59343 broad.mit.edu 37 3 185339666 185339666 + Missense_Mutation SNP A A G TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr3:185339666A>G ENST00000296257.5 + 14 1739 c.1499A>G c.(1498-1500)aAg>aGg p.K500R SENP2_ENST00000427465.2_Missense_Mutation_p.K324R|SENP2_ENST00000545472.1_Missense_Mutation_p.K490R NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 500 Protease. mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) ATGGGACAAAAGGGCCACAGG 0.388000 4 216 0 0 0.000602214 0 0 ADAM20 8748 broad.mit.edu 37 14 70991372 70991372 + Missense_Mutation SNP G G T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr14:70991372G>T ENST00000256389.3 - 2 497 c.253C>A c.(253-255)Cag>Aag p.Q85K RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 35 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GTGAAATACTGGGAGGGCCTG 0.557000 13 11 2.27111e-07 1.45791e-06 0.00136819 1 0 AIRE 326 broad.mit.edu 37 21 45709924 45709924 + Silent SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr21:45709924C>T ENST00000291582.5 + 7 979 c.852C>T c.(850-852)gcC>gcT p.A284A NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 284 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) CCCCTCTGGCCCTCCCCAGTG 0.687000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 7 16 0 0 0.000442599 0 0 NLRP13 126204 broad.mit.edu 37 19 56423975 56423975 + Missense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr19:56423975C>T ENST00000588751.1 - 5 1232 c.1208G>A c.(1207-1209)aGt>aAt p.S403N NLRP13_ENST00000342929.3_Missense_Mutation_p.S403N Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 403 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTCAACTTCACTTGAGTCATC 0.443000 25 36 0 0 0.00047179 0 0 CELSR2 1952 broad.mit.edu 37 1 109804140 109804140 + Missense_Mutation SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr1:109804140C>T ENST00000271332.3 + 4 4248 c.4187C>T c.(4186-4188)gCc>gTc p.A1396V NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1396 Laminin G-like 1. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TTCAGGTTTGCCACAAAGGAG 0.602000 6 195 0 0 0.000274275 0 0 DCDC1 341019 broad.mit.edu 37 11 30944050 30944050 + Splice_Site SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr11:30944050C>T ENST00000597505.1 - 22 3132 c.3133_splice c.e22+1 p.A1045_splice DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Splice_Site_p.A124_splice P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CAATGCTTACCTTCTATTTTA 0.308000 20 32 0 0 0.00152264 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95111314 95111314 + RNA SNP C C A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr14:95111314C>A ENST00000469935.1 + 0 1134 NR_015340.1 TTCCACTTCCCCAAATTTTCC 0.522000 19 18 7.45023e-12 5.29498e-11 0.00152264 1 0 SNX16 64089 broad.mit.edu 37 8 82714665 82714665 + Silent SNP C C T TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr8:82714665C>T ENST00000396330.2 - 8 1394 c.888G>A c.(886-888)gtG>gtA p.V296V SNX16_ENST00000353788.4_Silent_p.V267V|SNX16_ENST00000345957.4_Silent_p.V296V|RP13-923O23.6_ENST00000524337.1_RNA NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 296 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 CAGAGGACTCCACCTTTAGGA 0.343000 10 14 0 0 0.000442599 0 0 C5orf38 153571 broad.mit.edu 37 5 2752737 2752742 + Splice_Site DEL TTTGTG TTTGTG - TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr5:2752737_2752742delTTTGTG ENST00000515640.1 + 2 221_226 c.200_splice c.e2-1 p.FV68_splice C5orf38_ENST00000397835.4_Splice_Site_p.FV68_splice|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000505778.1_Splice_Site_p.FV68_splice|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000334000.3_Splice_Site_p.FV68_splice Q86SI9 CEI_HUMAN chromosome 5 open reading frame 38 68 extracellular region endometrium(2)|large_intestine(1)|lung(1) 4 GBM - Glioblastoma multiforme(108;0.205) CTCTTTCAGATTTGTGTTGTCAAAAC 0.490 24 87 --- --- --- --- C7orf65 401335 broad.mit.edu 37 7 47698645 47698646 + Frame_Shift_Ins INS - - A TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr7:47698645_47698646insA ENST00000408988.2 + 3 310_311 c.275_276insA c.(274-276)gatfs p.D92fs NM_001123065.1 NP_001116537.1 Q6ZTY9 CG065_HUMAN chromosome 7 open reading frame 65 92 endometrium(1)|lung(2) 3 AATTCATGTGGAATCACCCTAG 0.515 34 58 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68152466 68152468 + In_Frame_Del DEL AGT AGT - TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr8:68152466_68152468delAGT ENST00000262215.3 - 20 3297_3299 c.2908_2910delACT c.(2908-2910)del p.T970del ARFGEF1_ENST00000520381.1_In_Frame_Del_p.T424del NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 970 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) AGGCTACTTCAGTATCATCACAA 0.360 25 78 --- --- --- --- TRAV9-2 28677 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 2 4 --- --- --- --- DLG4 1742 broad.mit.edu 37 17 7096904 7096917 + Splice_Site DEL CTGCAGAGAGAGCC CTGCAGAGAGAGCC - TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr17:7096904_7096917delCTGCAGAGAGAGCC ENST00000399510.2 - 18 2573 c.e18-1 DLG4_ENST00000302955.6_Splice_Site|DLG4_ENST00000399506.2_Splice_Site NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCATAGTGCACTGCAGAGAGAGCCTGGCTTAGGC 0.612 5 11 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-FS-A1YX-06A-11D-A197-08 TCGA-FS-A1YX-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3b8e4b31-301c-4f19-8b9f-3995bbddb4fa ab4c890d-d4cd-4fe8-a7d5-244d7c70e448 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 4 --- --- --- ---