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 NPAS2 4862 broad.mit.edu 37 2 101598737 101598737 + Silent SNP A A G TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr2:101598737A>G ENST00000335681.5 + 16 1812 c.1527A>G c.(1525-1527)ctA>ctG p.L509L NPAS2_ENST00000542504.1_Silent_p.L574L NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 509 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGACCAGCTAGAGCAGCGGA 0.527000 4 55 0 0 0.014758 0 0 EXPH5 23086 broad.mit.edu 37 11 108384325 108384325 + Missense_Mutation SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr11:108384325C>T ENST00000265843.4 - 6 2019 c.1909G>A c.(1909-1911)Gac>Aac p.D637N EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.D561N|EXPH5_ENST00000443411.1_Missense_Mutation_p.D449N|EXPH5_ENST00000525344.1_Missense_Mutation_p.D630N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 637 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCTTCTGTCATCAGAAATC 0.408000 10 91 0 0 0.069234 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 3 52 0 0 0.115264 0 0 CDH12 1010 broad.mit.edu 37 5 22078769 22078769 + Missense_Mutation SNP C C G TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr5:22078769C>G ENST00000382254.1 - 5 1103 c.17G>C c.(16-18)tGt>tCt p.C6S CDH12_ENST00000504376.2_Missense_Mutation_p.C6S|CDH12_ENST00000522262.1_Missense_Mutation_p.C6S NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 6 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CAGGGATAAACAGTTCCTTGT 0.448000 HNSCC(59;0.17) 29 55 0 0 0.108266 0 0 LPL 4023 broad.mit.edu 37 8 19811648 19811648 + Missense_Mutation SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr8:19811648C>T ENST00000311322.8 + 5 1029 c.559C>T c.(559-561)Cct>Tct p.P187S NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 187 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TCCAGCTGGACCTAACTTTGA 0.453000 27 50 0 0 0.099896 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 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 14 40 0 0 0.146539 0 0 MAST2 23139 broad.mit.edu 37 1 46501483 46501483 + Silent SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr1:46501483C>T ENST00000361297.2 + 29 5425 c.5142C>T c.(5140-5142)gcC>gcT p.A1714A MAST2_ENST00000372008.1_Intron|MAST2_ENST00000372009.2_Silent_p.A1524A NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1714 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCAGACTGGCCCATCCATCTT 0.577000 4 85 0 0 0.150653 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213808 42213808 + Missense_Mutation SNP G G C TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr19:42213808G>C ENST00000221992.6 + 2 388 c.274G>C c.(274-276)Ggg>Cgg p.G92R CEACAM5_ENST00000398599.4_Missense_Mutation_p.G92R|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G92R|CEA_ENST00000598976.1_Missense_Mutation_p.G92R NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 92 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AGCTACCCCAGGGCCCGCATA 0.473000 6 223 0 0 0.021553 0 0 RGS21 431704 broad.mit.edu 37 1 192321267 192321267 + Missense_Mutation SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr1:192321267C>T ENST00000417209.2 + 4 353 c.179C>T c.(178-180)aCg>aTg p.T60M NM_001039152.3 NP_001034241.1 Q2M5E4 RGS21_HUMAN regulator of G-protein signaling 21 60 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 TTTAAGAAAACGAAAAATGCA 0.348000 3 16 0 0 0.115264 0 0 SLC25A3 5250 broad.mit.edu 37 12 98991696 98991696 + Silent SNP T T G TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr12:98991696T>G ENST00000188376.5 + 3 696 c.342T>G c.(340-342)ggT>ggG p.G114G SLC25A3_ENST00000549338.1_Silent_p.G114G|SLC25A3_ENST00000548847.1_Silent_p.G114G|SLC25A3_ENST00000228318.3_Silent_p.G115G|SLC25A3_ENST00000401722.3_Silent_p.G114G|SLC25A3_ENST00000547534.1_Silent_p.G114G|SLC25A3_ENST00000552981.1_Silent_p.G114G|SLC25A3_ENST00000551917.1_Silent_p.G115G NM_002635.3|NM_213611.2 NP_002626.1|NP_998776.1 Q00325 MPCP_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 115 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1) 16 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) AAGAGGATGGTGTTCGTGGTT 0.393000 27 51 0 0 0.134883 0 0 MT-TL1 0 broad.mit.edu 37 MT 3248 3248 + RNA SNP G G A TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chrM:3248G>A ENST00000386347.1 + 0 19 tggcagagcccggtaatcgca 0.438000 7 46 0 0 0.038147 0 0 LIFR 3977 broad.mit.edu 37 5 38511959 38511959 + Silent SNP G G A TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr5:38511959G>A ENST00000263409.4 - 6 831 c.669C>T c.(667-669)taC>taT p.Y223Y LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.Y223Y NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 223 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GATTGTCAATGTAGCATCTAA 0.393000 T PLAG1 salivary adenoma 12 29 0 0 0.080935 0 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 8 --- --- --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 7 170 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 2 4 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 8962361 8962361 + Frame_Shift_Del DEL C C - TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr19:8962361delC ENST00000397910.4 - 82 43541 c.43338delG c.(43336-43338)ggfs p.G14446fs MUC16_ENST00000380951.5_Frame_Shift_Del_p.G1087fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13920 SEA 16. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TACCAGAATTCCCAGTTAAGG 0.478 2 4 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 7 15 --- --- --- ---