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 SYNE1 23345 broad.mit.edu 37 6 152539540 152539540 + Splice_Site SNP T T C rs35128811 TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr6:152539540T>C ENST00000367255.5 - 121 22646 c.e121-2 SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACTCCAGCCTTTTTTTCCAC 0.343000 HNSCC(10;0.0054) 4 131 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151067935 151067935 + Missense_Mutation SNP A A C TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr3:151067935A>C ENST00000474524.1 + 15 2272 c.2234A>C c.(2233-2235)aAg>aCg p.K745T P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.K605T|MED12L_ENST00000491549.1_3'UTR NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 745 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CATCAGCTGAAGAAGATTACC 0.418000 4 88 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 4 22 0 0 1 0 0 APOA1 335 broad.mit.edu 37 11 116706628 116706628 + Missense_Mutation SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr11:116706628C>T ENST00000236850.4 - 4 1065 c.700G>A c.(700-702)Gcg>Acg p.A234T APOA1_ENST00000375320.1_Missense_Mutation_p.A234T|APOA1_ENST00000375323.1_Missense_Mutation_p.A234T|APOA1_ENST00000375329.2_Missense_Mutation_p.A212T|APOA1_ENST00000359492.2_Missense_Mutation_p.A234T NM_000039.1 NP_000030.1 P02647 APOA1_HUMAN apolipoprotein A-I 234 10 X approximate tandem repeats. Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCCTCGAGCGCGGGCTTGGCC 0.642000 3 54 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80201370 80201370 + Missense_Mutation SNP G G A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr6:80201370G>A ENST00000392959.1 - 7 1644 c.1033C>T c.(1033-1035)Cct>Tct p.P345S LCA5_ENST00000369846.4_Missense_Mutation_p.P345S|LCA5_ENST00000467898.2_Missense_Mutation_p.P345S NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 345 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GGAGTTAAAGGATATTCTTCT 0.373000 21 111 0 0 1 0 0 TULP1 7287 broad.mit.edu 37 6 35473863 35473863 + Missense_Mutation SNP G G A TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr6:35473863G>A ENST00000229771.6 - 10 995 c.916C>T c.(916-918)Cgc>Tgc p.R306C TULP1_ENST00000322263.4_Missense_Mutation_p.R253C NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 306 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 AGCCGGCAGCGCACCGTGCGG 0.677000 14 42 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23248052 23248052 + Missense_Mutation SNP C C G TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr10:23248052C>G ENST00000298032.5 + 5 430 c.346C>G c.(346-348)Cag>Gag p.Q116E ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.Q116E|ARMC3_ENST00000409983.3_Missense_Mutation_p.Q116E NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 116 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGTCATTGCCCAGCTCGCTCC 0.284000 9 73 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189060901 189060901 + Silent SNP G G A rs147444946 byFrequency TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr4:189060901G>A ENST00000332517.3 + 1 329 c.189G>A c.(187-189)ccG>ccA p.P63P NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 63 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGGAGGGCCCGCATTTCCAGT 0.602000 7 73 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082552 152082552 + Silent SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr1:152082552C>T ENST00000368804.1 - 2 3140 c.3141G>A c.(3139-3141)gaG>gaA p.E1047E NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1047 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATATTGCCTCTCCCGCTCCT 0.582000 4 105 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173322724 173322724 + Silent SNP A A G TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr3:173322724A>G ENST00000457714.1 + 3 765 c.336A>G c.(334-336)caA>caG p.Q112Q NLGN1_ENST00000545397.1_Silent_p.Q112Q|NLGN1_ENST00000401917.3_Silent_p.Q112Q|NLGN1_ENST00000361589.4_Silent_p.Q112Q NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 112 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATGCCACTCAATTTGCTCCTG 0.463000 18 69 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16952952 16952952 + RNA SNP G G A rs1762946 by1000genomes TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr1:16952952G>A ENST00000412962.1 - 0 664 TCTGCCCTCAGCTTGGTCACG 0.622000 4 21 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 18 0 0 1 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659536 24659536 + RNA SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr22:24659536C>T ENST00000414583.2 + 0 3061 NR_003714.1 GATCTCATCGCGGACACCACT 0.512000 3 8 0 0 1 0 0 SLC25A44 9673 broad.mit.edu 37 1 156177746 156177746 + Missense_Mutation SNP C C T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr1:156177746C>T ENST00000359511.4 + 3 867 c.695C>T c.(694-696)gCt>gTt p.A232V SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Missense_Mutation_p.A209V NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 232 transmembrane transport integral to membrane|mitochondrial inner membrane binding breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) GGGCCCCTGGCTGCAGCCACT 0.557000 9 41 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 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 3 3 --- --- --- --- PMS2P4 5382 broad.mit.edu 37 7 66762448 66762449 + RNA INS - - T TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr7:66762448_66762449insT ENST00000414507.1 - 0 184 aaaaaaaaaaaaTGGACCCATG 0.401 2 4 --- --- --- --- TRUB1 142940 broad.mit.edu 37 10 116698250 116698250 + Frame_Shift_Del DEL C C - TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr10:116698250delC ENST00000298746.3 + 1 299 c.238delC c.(238-240)ccfs p.P80fs TRUB1_ENST00000485065.1_3'UTR NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 80 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) GCCCAAAGGGCCCACTTCAGC 0.657 2 4 --- --- --- --- CCDC137 339230 broad.mit.edu 37 17 79639622 79639622 + Frame_Shift_Del DEL A A - rs35963091 TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chr17:79639622delA ENST00000329214.8 + 6 1161 c.758delA c.(757-759)ggfs p.E254fs NM_199287.2 NP_954981.1 Q6PK04 CC137_HUMAN coiled-coil domain containing 137 254 NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2) 12 all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) ATTGTGGAGGAGGAGAGAGAG 0.672 2 4 --- --- --- --- EFNB1 1947 broad.mit.edu 37 X 68058545 68058545 + Frame_Shift_Del DEL C C - TCGA-QR-A6H0-01A-11D-A35D-08 TCGA-QR-A6H0-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx a7beead6-bfb3-41cd-8d66-b630a1d927ca 8c64013f-3fef-4ace-ae3d-75f927c4c567 g.chrX:68058545delC ENST00000204961.4 + 2 994 c.214delC c.(214-216)ccfs p.P72fs NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 72 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 AGCAGGGCGGCCCTATGAGTA 0.572 2 4 --- --- --- ---