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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TAS2R9 50835 broad.mit.edu 37 12 10962013 10962013 + Missense_Mutation SNP T C C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr12:10962013T>C uc001qyx.3 - 0 755 c.662A>G c.(661-663)gAc>gGc p.D221G TAS2R8_uc010shh.2_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA. 221 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TGTACTGGGGTCTCTGAACCC 0.468000 27 25 0 0 0.024334 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41038949 41038949 + Silent SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41038949G>A uc003jmj.4 - 20 2593 c.2103C>T c.(2101-2103)gtC>gtT p.V701V HEATR7B2_uc003jmi.4_Silent_p.V256V NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 701 binding p.D700Y(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 AGATGACCATGACATCTGTCT 0.453000 46 9 0 0 0.008291 0 0 CAB39L 81617 broad.mit.edu 37 13 49906228 49906228 + Splice_Site SNP T C C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr13:49906228T>C uc001vcw.3 - 8 1189 c.691_splice c.e8-1 p.L231_splice CAB39L_uc001vcx.3_Splice_Site_p.L231_splice|CAB39L_uc010adf.3_Splice_Site_p.L228_splice NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA. 231 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1) 12 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) CCCTAGCAGCTAGAGGAAAAC 0.428000 43 22 0 0 0.014323 0 0 GRK7 131890 broad.mit.edu 37 3 141497272 141497272 + Missense_Mutation SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr3:141497272G>A uc011bnd.2 + 0 230 c.146G>A c.(145-147)cGc>cAc p.R49H NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA. 49 visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 GCGGAGCTCCGCCAGAAGCTG 0.682000 10 15 0 0 0.028581 0 0 VTRNA2-1 100126299 broad.mit.edu 37 5 135416237 135416237 + RNA SNP A T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:135416237A>T uc021ydy.1 - 0 c.50T>A Homo sapiens vault RNA 2-1 (VTRNA2-1), vault RNA. AGAGATGGACAGATAGAAAGT 0.478000 20 7 0 0 0.001984 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409032 79409032 + Silent SNP C T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr17:79409032C>T uc002kaf.2 + 3 471 c.471C>T c.(469-471)ctC>ctT p.L157L BAHCC1_uc002kae.2_5'Flank NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA. 219 DNA binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1) 26 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) ACCGCTTCCTCGTGGGCAAAG 0.706000 29 4 0 0 0.014758 0 0 PTK7 5754 broad.mit.edu 37 6 43098054 43098054 + Missense_Mutation SNP C T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr6:43098054C>T uc011dve.1 + 3 623 c.581C>T c.(580-582)aCg>aTg p.T194M PTK7_uc003oub.1_Missense_Mutation_p.T186M|PTK7_uc003ouc.1_Missense_Mutation_p.T186M|PTK7_uc003oud.1_Missense_Mutation_p.T186M|PTK7_uc003oue.1_Missense_Mutation_p.T186M|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Intron|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.T186M NM_002821 NP_002812 Q13308 PTK7_HUMAN Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA. 186 Ig-like C2-type 2. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CGGAACCTGACGCTCCGGCCA 0.592000 34 20 0 0 0.010504 0 0 GMPPB 29925 broad.mit.edu 37 3 49759540 49759540 + Missense_Mutation SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr3:49759540G>A uc003cxl.1 - 7 1034 c.809C>T c.(808-810)cCc>cTc p.P270L AMIGO3_uc003cxj.3_5'Flank|GMPPB_uc003cxk.1_Missense_Mutation_p.P270L NM_013334 NP_037466 Q9Y5P6 GMPPB_HUMAN Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA. 270 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTCACATTGGGGCCAATGCT 0.602000 38 19 0 0 0.012319 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41039647 41039647 + Missense_Mutation SNP G C C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41039647G>C uc003jmj.4 - 19 2454 c.1964C>G c.(1963-1965)tCt>tGt p.S655C HEATR7B2_uc003jmi.4_Missense_Mutation_p.S210C NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 655 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TCCTAAAATAGATGTTATTCC 0.303000 14 3 0 0 0.004672 0 0 PDGFC 56034 broad.mit.edu 37 4 157688986 157688986 + Missense_Mutation SNP C G G TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr4:157688986C>G uc003iph.2 - 4 1351 c.860G>C c.(859-861)tGt>tCt p.C287S PDGFC_uc003ipi.2_Missense_Mutation_p.C124S|PDGFC_uc011cis.2_Missense_Mutation_p.C124S|PDGFC_uc011cir.2_Missense_Mutation_p.C131S NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA. 287 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATTGTGGAGACAACAGGCACA 0.418000 33 21 0 0 0.012319 0 0 RRN3P3 100131998 broad.mit.edu 37 16 22441236 22441236 + RNA SNP G A A rs114681793 by1000genomes TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr16:22441236G>A uc010vbu.1 - 4 c.1170C>T RRN3P3_uc002dkp.2_Non-coding_Transcript Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA. TGTTCCTCTCGATGATGGTGT 0.507000 29 4 0 0 0.014758 0 0 SCN1A 6323 broad.mit.edu 37 2 166866263 166866263 + Missense_Mutation SNP G T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr2:166866263G>T uc002udo.4 - 21 4195 c.3968C>A c.(3967-3969)cCt>cAt p.P1323H SCN1A_uc010fpk.3_Missense_Mutation_p.P1295H|SCN1A_uc021vsb.1_Missense_Mutation_p.P1312H NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 1323 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGCTCTTAGAGGTCTCAGAGC 0.373000 25 13 6.72482e-11 1.05183e-10 0.024245 1 0 LOC100133050 100133050 broad.mit.edu 37 5 99715528 99715528 + RNA SNP C T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:99715528C>T uc011cuw.1 - 3 c.382G>A Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA. AGCGGACAGTCGAAGCCCTTC 0.607000 5 4 0 0 0.009096 0 0 HEPACAM 220296 broad.mit.edu 37 11 124793256 124793256 + Silent SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr11:124793256G>A uc001qbk.3 - 3 1189 c.783C>T c.(781-783)gcC>gcT p.A261A HEPACAM_uc009zbj.3_5'UTR|HEPACAM_uc001qbl.1_Silent_p.A261A NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 261 cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) GTTTCCAGCAGGCACAGACTG 0.483000 66 54 0 0 0.014410 0 0 abParts 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr22:22664141G>A uc021wml.1 + 31 c.2583G>A abParts_uc011aiq.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. AAATTTGAAGGTGCTGTGATT 0.448000 44 4 0 0 0.009096 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41058209 41058209 + Silent SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41058209G>A uc003jmj.4 - 6 1202 c.712C>T c.(712-714)Ctg>Ttg p.L238L HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Silent_p.L238L NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 238 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 TACTGGTTCAGGAGCCAGGGC 0.547000 29 14 0 0 0.028581 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41038885 41038885 + Missense_Mutation SNP G C C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:41038885G>C uc003jmj.4 - 20 2657 c.2167C>G c.(2167-2169)Caa>Gaa p.Q723E HEATR7B2_uc003jmi.4_Missense_Mutation_p.Q278E NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA. 723 binding breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4) 133 ATGATATCTTGATTAAGTCTG 0.483000 43 10 0 0 0.008291 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 56 7 0 0 0.006214 0 0 IGHE 3497 broad.mit.edu 37 14 106329439 106329439 + Missense_Mutation SNP C A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr14:106329439C>A uc001yrw.1 - 0 24 c.12G>T c.(10-12)tgG>tgT p.W4C abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|IGHE_uc001ysj.3_Missense_Mutation_p.W4C|IGHE_uc001ysk.1_Missense_Mutation_p.W4C|IGHE_uc001ysl.1_Missense_Mutation_p.W4C|IGHE_uc001ysm.2_Intron|IGHE_uc001ysn.1_Intron|abParts_uc021set.1_5'Flank RecName: Full=Ig epsilon chain C region; TCCCTTTGCCCCAGACGTCCA 0.537000 10 3 0.004672 0.00678552 0.004672 1 0 FAM5C 339479 broad.mit.edu 37 1 190067167 190067167 + Missense_Mutation SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:190067167G>A uc001gse.1 - 7 2514 c.2282C>T c.(2281-2283)aCg>aTg p.T761M FAM5C_uc010pot.1_Missense_Mutation_p.T659M NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 761 extracellular region p.T761R(2)|p.T761T(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TAATTTGGTCGTGTCATAATC 0.398000 52 59 0 0 0.014410 0 0 MYO3A 53904 broad.mit.edu 37 10 26465722 26465722 + Silent SNP C T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr10:26465722C>T uc001isn.2 + 30 4746 c.4386C>T c.(4384-4386)gtC>gtT p.V1462V MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1462 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.G1461G(1) 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 ATCTGGGTGTCTCGCACCATA 0.368000 76 6 0 0 0.003080 0 0 abParts 0 broad.mit.edu 37 14 106812249 106812249 + Splice_Site SNP A C C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr14:106812249A>C uc021ser.1 - 566 c.16076_splice c.e566-1 Parts of antibodies, mostly variable regions. CCTTGCCTGGAGACTGGTGAA 0.488000 1 2 0 0 0.004672 0 0 MCF2L 23263 broad.mit.edu 37 13 113719307 113719307 + Missense_Mutation SNP G A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr13:113719307G>A uc001vsu.3 + 6 835 c.835G>A c.(835-837)Ggg>Agg p.G279R MCF2L_uc001vsq.3_Missense_Mutation_p.G279R|MCF2L_uc010tjr.2_Missense_Mutation_p.G222R|MCF2L_uc001vsr.3_Missense_Mutation_p.G226R|MCF2L_uc001vss.4_Missense_Mutation_p.G220R|MCF2L_uc010tjs.2_Missense_Mutation_p.G220R|MCF2L_uc001vst.1_Missense_Mutation_p.G184R NM_024979 NP_079255 O15068 MCF2L_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA. 252 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) GCAGTCCTTCGGGACCGAGCT 0.552000 10 20 0 0 0.008871 0 0 MST1P2 11209 broad.mit.edu 37 1 16976805 16976805 + RNA SNP G A A rs1057421 by1000genomes TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:16976805G>A uc010och.2 + 13 c.2526G>A MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. ttgtactcaaggctgagattt 0.383000 26 3 0 0 0.004672 0 0 AMACR 23600 broad.mit.edu 37 5 33989591 33989591 + Silent SNP A T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:33989591A>T uc003jij.3 - 4 852 c.756T>A c.(754-756)tcT>tcA p.S252S AMACR_uc003jig.3_Silent_p.S252S|AMACR_uc003jih.3_Nonstop_Mutation_p.*199R NM_001167595 NP_001161067 Q9UHK6 AMACR_HUMAN Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 252 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 GAAGTTCATCAGACTTTAGTC 0.373000 16 7 0 0 0.004482 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160274753 160274753 + Silent SNP T A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr4:160274753T>A uc003iqg.4 + 21 4033 c.3723T>A c.(3721-3723)gcT>gcA p.A1241A NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA. 1241 MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CACTTGATGCTGCTGACAGTG 0.537000 68 41 0 0 0.013114 0 0 MYO3A 53904 broad.mit.edu 37 10 26465754 26465754 + Missense_Mutation SNP C T T TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr10:26465754C>T uc001isn.2 + 30 4778 c.4418C>T c.(4417-4419)tCt>tTt p.S1473F MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1473 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|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 AGACGAGTTTCTTCTCAGCAG 0.378000 75 5 0 0 0.001984 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118358 118358 + RNA SNP A G G TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chrGL000205.1:118358A>G uc002kgk.4 + 0 c.1736A>G Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GCCAGGGAAGACATCATCCCT 0.557000 33 5 0 0 0.014758 0 0 RYR2 6262 broad.mit.edu 37 1 237777500 237777500 + Missense_Mutation SNP A G G TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:237777500A>G uc001hyl.1 + 36 5192 c.5072A>G c.(5071-5073)aAc>aGc p.N1691S NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1691 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCATTGAGAACAAGTACATG 0.562000 27 23 0 0 0.012319 0 0 AADACL4 343066 broad.mit.edu 37 1 12726393 12726393 + Missense_Mutation SNP C A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:12726393C>A uc001auf.3 + 3 871 c.871C>A c.(871-873)Ccc>Acc p.P291T NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 291 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TGACAACATCCCCAAGAAATT 0.512000 60 33 7.65355e-07 1.16717e-06 0.012213 1 0 ACBD3 64746 broad.mit.edu 37 1 226349297 226349297 + Missense_Mutation SNP C G G TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:226349297C>G uc001hpy.3 - 3 710 c.663G>C c.(661-663)agG>agC p.R221S NM_022735 NP_073572 Q9H3P7 GCP60_HUMAN Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA. 221 Arg-rich.|Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) cccgtcgaagcctttcctctt 0.463000 4 13 0 0 0.013537 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19415742 19415742 + RNA SNP T C C TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr13:19415742T>C uc010tcj.1 - 0 c.30368A>G Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GCTGTTTTCCTAATCTTTCTT 0.338000 32 3 0 0 0.004672 0 0 FMN2 56776 broad.mit.edu 37 1 240255958 240255958 + Silent SNP C A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:240255958C>A uc010pye.2 + 0 774 c.549C>A c.(547-549)atC>atA p.I183I FMN2_uc010pyd.2_Silent_p.I183I NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 183 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACACGGACATCTATAGCTTCC 0.632000 43 25 8.16721e-17 1.31105e-16 0.010818 1 0 UGT3A1 133688 broad.mit.edu 37 5 35965978 35965978 + Missense_Mutation SNP C A A TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr5:35965978C>A uc003jjv.2 - 3 546 c.353G>T c.(352-354)gGg>gTg p.G118V UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G118V|UGT3A1_uc011cor.2_Missense_Mutation_p.G84V|UGT3A1_uc003jjy.2_Missense_Mutation_p.G64V NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 118 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACATTGAGTCCCAAATATTTC 0.294000 24 7 0.000157383 0.000234156 0.003080 1 0 NTRK1 4914 broad.mit.edu 37 1 156838323 156838323 + Frame_Shift_Del DEL C - - TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr1:156838323delC uc001fqh.1 + 5 657 c.601delC c.(601-603)cccfs p.P201fs NTRK1_uc001fqf.1_Frame_Shift_Del_p.P171fs|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Frame_Shift_Del_p.P201fs|NTRK1_uc009wsk.1_Frame_Shift_Del_p.P201fs NM_002529 NP_002520 P04629 NTRK1_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA. 201 Ig-like C2-type 1. Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGTCCAGGTGCCCAATGCCTC 0.692 T """TPM3, TPR, TFG""" papillary thyroid TSP Lung(10;0.080) --- 4 --- --- 2 --- PRSS50 29122 broad.mit.edu 37 3 46759228 46759229 + In_Frame_Ins INS - AGC AGC rs143449678 by1000genomes TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr3:46759228_46759229insAGC uc003cqe.1 - 0 568_569 c.86_87insGCT c.(85-87)ctt>ctGCTt p.29_29L>LL PRSS50_uc021wxe.1_In_Frame_Ins_p.29_29L>LL|PRSS50_uc003cqf.2_Intron NM_013270 NP_037402 Q9UI38 TSP50_HUMAN Homo sapiens protease, serine, 50 (PRSS50), mRNA. 29 proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.L32_R33insL(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 TCAGCAACAGAAGCAGCAGCAG 0.728 --- 4 --- --- 4 --- ATXN1 6310 broad.mit.edu 37 6 16327864 16327865 + In_Frame_Ins INS - TGC TGC TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr6:16327864_16327865insTGC uc003nbt.3 - 7 1648_1649 c.677_678insGCA c.(676-678)cac>caGCAc p.225_226insQ ATXN1_uc010jpi.3_In_Frame_Ins_p.225_226insQ|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 225 Poly-Gln. RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CCCTGCTGAGGtgctgctgctg 0.653 --- 7 --- --- 5 --- FAM74A3 728495 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA - - rs62565543 TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr9:40715923_40715924delAA uc010mmk.2 + 0 c.400_401delAA Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA. endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 --- 3 --- --- 3 --- EVL 51466 broad.mit.edu 37 14 100594926 100594927 + Frame_Shift_Ins INS - C C rs150744633 TCGA-EE-A20I-06A-11D-A196-08 TCGA-EE-A20I-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 302d8099-cade-45f6-ae3d-3bb4f5f09697 93fd9a89-134f-4ba7-8289-902750bc136b g.chr14:100594926_100594927insC uc001ygu.3 + 5 645_646 c.558_559insC c.(556-561)ccgcccfs p.P186fs EVL_uc001ygt.3_Frame_Shift_Ins_p.P184fs|EVL_uc001ygv.2_Frame_Shift_Ins_p.P190fs NM_016337 NP_057421 Q9UI08 EVL_HUMAN Homo sapiens Enah/Vasp-like (EVL), mRNA. 184 Pro-rich. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium SH3 domain binding|actin binding|profilin binding p.P189fs*41(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) GGcctccaccgccccccccacc 0.688 --- 11 --- --- 6 ---