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 SULF1 23213 broad.mit.edu 37 8 70540461 70540461 + Missense_Mutation SNP C C T TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr8:70540461C>T ENST00000260128.4 + 18 2815 c.2098C>T c.(2098-2100)Cac>Tac p.H700Y SULF1_ENST00000402687.4_Missense_Mutation_p.H700Y|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.H700Y|SULF1_ENST00000458141.2_Missense_Mutation_p.H700Y NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 700 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GAGCCATCTTCACCCATTCAA 0.428000 20 56 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128186 152128186 + Silent SNP A A G TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr1:152128186A>G ENST00000316073.3 - 3 1453 c.1389T>C c.(1387-1389)taT>taC p.Y463Y NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 463 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CTGTCTGACCATAGTGGGAAC 0.512000 6 788 0 0 1 0 0 CCBL2 56267 broad.mit.edu 37 1 89427800 89427800 + Missense_Mutation SNP C C A TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr1:89427800C>A ENST00000260508.4 - 6 819 c.482G>T c.(481-483)tGc>tTc p.C161F CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.C127F|CCBL2_ENST00000446900.2_5'UTR NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 161 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGGCTCATAGCAGTCATAGAA 0.378000 3 41 1 1 1 1 0 TBC1D3P5 440419 broad.mit.edu 37 17 25748637 25748637 + RNA SNP C C A TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:25748637C>A ENST00000586223.1 + 0 554 NR_033892.1 CTAACTCCAACATTCCTCATT 0.537000 10 20 0.000442599 0.000540955 1 1 0 ZNF407 55628 broad.mit.edu 37 18 72776115 72776115 + Missense_Mutation SNP C C G TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr18:72776115C>G ENST00000299687.5 + 8 6438 c.6438C>G c.(6436-6438)atC>atG p.I2146M NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 2146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CGCAGATCATCGTGACGGAGG 0.652000 4 9 0 0 1 0 0 SECISBP2 79048 broad.mit.edu 37 9 91972365 91972365 + Missense_Mutation SNP C C T TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr9:91972365C>T ENST00000375807.3 + 15 2224 c.2153C>T c.(2152-2154)gCc>gTc p.A718V SECISBP2_ENST00000339901.4_Missense_Mutation_p.A645V|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A650V NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 718 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 ATTGATTATGCCTGTGAGCAG 0.468000 4 202 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161618 90161618 + RNA SNP C C T rs13338202 by1000genomes TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr16:90161618C>T ENST00000567960.1 + 0 354 TUBB8P7_ENST00000564451.1_RNA p.D118D(2) CAGTGATGGACGTTGTCAGAA 0.607000 4 30 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1577856 1577856 + Missense_Mutation SNP T T C TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:1577856T>C ENST00000572621.1 - 20 3444 c.3179A>G c.(3178-3180)gAg>gGg p.E1060G PRPF8_ENST00000304992.6_Missense_Mutation_p.E1060G Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1060 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CCCAGCCATCTCACTGGCCCG 0.517000 9 109 0 0 1 0 0 DPM1 8813 broad.mit.edu 37 20 49551759 49551759 + Silent SNP A A G TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr20:49551759A>G ENST00000371582.4 - 10 805 c.774T>C c.(772-774)ttT>ttC p.F258F DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Silent_p.F226F|DPM1_ENST00000371588.5_Silent_p.F231F|RP5-914P20.5_ENST00000558899.2_RNA O60762 DPM1_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit 231 C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 7 CACGATCCACAAATGATATTG 0.318000 36 95 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43617416 43617416 + Missense_Mutation SNP T T C rs74799832 TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr10:43617416T>C ENST00000355710.3 + 16 2985 c.2753T>C c.(2752-2754)aTg>aCg p.M918T RET_ENST00000340058.5_Missense_Mutation_p.M918T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 918 Protein kinase. M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.M918T(247) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GTTAAATGGATGGCAATTGAA 0.443000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 35 81 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070687 141070687 + RNA SNP C C T TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr9:141070687C>T ENST00000503395.1 + 0 1462 ACAACTGGGCCAAGGGACGCT 0.577000 4 9 0 0 1 0 0 HEXDC 284004 broad.mit.edu 37 17 80400118 80400118 + Missense_Mutation SNP C C A TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:80400118C>A ENST00000327949.9 + 12 1330 c.1319C>A c.(1318-1320)cCg>cAg p.P440Q HEXDC_ENST00000577944.1_Silent_p.P442P|HEXDC_ENST00000337014.6_Silent_p.R470R Q8WVB3 HEXDC_HUMAN hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing 440 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCTTTCTACCCGGATGCCGTG 0.667000 5 17 0.184627 0.193419 1 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 3 36 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201029810 201029810 + Silent SNP G G T rs140294191 TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr1:201029810G>T ENST00000362061.3 - 26 3616 c.3390C>A c.(3388-3390)ctC>ctA p.L1130L CACNA1S_ENST00000367338.3_Silent_p.L1130L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1130 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGATGGTGTTGAGCATGATGA 0.527000 6 132 0.0215528 0.023708 1 1 0 BBS2 583 broad.mit.edu 37 16 56545120 56545120 + Missense_Mutation SNP T T C rs144680278 by1000genomes TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr16:56545120T>C ENST00000245157.5 - 3 842 c.422A>G c.(421-423)aAt>aGt p.N141S BBS2_ENST00000568104.1_Missense_Mutation_p.N141S|BBS2_ENST00000561951.1_5'UTR NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 141 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 CAGAGCACAATTGCCACCAAT 0.398000 Bardet-Biedl syndrome 5 90 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 33 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 26 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1031058 1031059 + Splice_Site INS - - G rs140721287 by1000genomes TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr11:1031058_1031059insG ENST00000421673.2 - 6 625 c.e6-2 NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 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) GGAACTTGCCTGGGGTGCAGAA 0.703 5 5 --- --- --- --- HTR7P1 93164 broad.mit.edu 37 12 13154653 13154653 + RNA DEL G G - TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr12:13154653delG ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA CTCCGGCCGCGGGGAGCAAAT 0.682 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 3 4 --- --- --- --- SCARNA6 677772 broad.mit.edu 37 16 21598984 21598985 + RNA INS - - T TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr16:21598984_21598985insT ENST00000516989.1 + 0 37_38 ccagcagcCCATTTTTTTTTTC 0.366 2 4 --- --- --- --- HSPA12B 116835 broad.mit.edu 37 20 3732491 3732491 + Frame_Shift_Del DEL C C - TCGA-WB-A819-01A-11D-A35I-08 TCGA-WB-A819-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 41c1bfb8-9744-4af4-a1f8-462abc9004a4 f6cc1cf9-c3e3-4b5a-8265-401390550102 g.chr20:3732491delC ENST00000254963.2 + 13 1884 c.1739delC c.(1738-1740)gcfs p.A580fs HSPA12B_ENST00000542646.1_Frame_Shift_Del_p.A414fs NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 580 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 TTCGTGGCCGCCGAGCAGTCG 0.716 2 4 --- --- --- ---