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 UBTFL1 642623 broad.mit.edu 37 11 89819843 89819843 + Missense_Mutation SNP G G A TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr11:89819843G>A uc010rub.2 + 0 726 c.726G>A c.(724-726)atG>atA p.M242I NM_001143975 NP_001137447 P0CB47 UBFL1_HUMAN Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA. 242 multicellular organismal development cytoplasm|nucleus DNA binding GTAAAGAGATGCAACATTTGT 0.483000 5 58 0 0 1 0 0 MFSD2B 388931 broad.mit.edu 37 2 24245335 24245335 + Silent SNP A A G TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr2:24245335A>G uc002reo.2 + 8 941 c.927A>G c.(925-927)acA>acG p.T309T NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA. 309 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 TGTTCTGTACACATGCCTCCC 0.607000 14 20 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747391 62747391 + Missense_Mutation SNP A A C TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr11:62747391A>C uc001nwk.3 - 6 1400 c.1067T>G c.(1066-1068)cTg>cGg p.L356R SLC22A6_uc001nwl.3_Missense_Mutation_p.L356R|SLC22A6_uc001nwj.3_Missense_Mutation_p.L356R|SLC22A6_uc001nwm.3_Missense_Mutation_p.L356R NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 356 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTCCATGACCAGCCCATAGTA 0.502000 5 117 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 118975673 118975673 + Missense_Mutation SNP G G T TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr4:118975673G>T uc003ibx.3 + 1 1011 c.608G>T c.(607-609)cGt>cTt p.R203L NDST3_uc011cgf.1_Missense_Mutation_p.R203L|NDST3_uc003ibw.3_Missense_Mutation_p.R203L NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 203 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 CCATTGATTCGTGTGACCAAA 0.358000 3 40 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228033757 228033757 + Missense_Mutation SNP G G A TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr1:228033757G>A uc001hrh.3 + 4 829 c.829G>A c.(829-831)Gtg>Atg p.V277M NM_183062 NP_898885 A1L453 PRS38_HUMAN Homo sapiens protease, serine, 38 (PRSS38), mRNA. 277 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTACCCTGGAGTGTATGCCAG 0.547000 7 71 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84618797 84618797 + Missense_Mutation SNP G G A TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr6:84618797G>A uc003pkf.3 + 3 532 c.400G>A c.(400-402)Gct>Act p.A134T NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA. 134 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CATTAAACCTGCTGTTCTGAA 0.393000 11 26 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr11:533875G>T uc001lpv.3 - 2 369 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript NM_005343 NP_005334 P01112 RASH_HUMAN Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA. 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission Golgi membrane|cytosol|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 49 116 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31605085 31605085 + Missense_Mutation SNP A A C TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr12:31605085A>C uc001rkh.1 - 6 1674 c.1523T>G c.(1522-1524)cTc>cGc p.L508R DENND5B_uc001rki.1_Missense_Mutation_p.L473R|DENND5B_uc001rkj.3_Missense_Mutation_p.L495R|DENND5B_uc001rkk.1_Missense_Mutation_p.L395R NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA. 473 dDENN. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AGAAGCAGAGAGGTCCATTTT 0.468000 9 234 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133899654 133899654 + Silent SNP C C T TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr8:133899654C>T uc003ytw.3 + 8 2078 c.2037C>T c.(2035-2037)ggC>ggT p.G679G NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 679 Thyroglobulin type-1 6. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCCTGCTGGCTCCACCTTGT 0.557000 10 52 0 0 1 0 0 RRP9 9136 broad.mit.edu 37 3 51969488 51969488 + Missense_Mutation SNP C C T TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr3:51969488C>T uc003dbw.1 - 9 880 c.841G>A c.(841-843)Gga>Aga p.G281R NM_004704 NP_004695 O43818 U3IP2_HUMAN Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA. 281 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) TCCTGGTGTCCGAAGCTAGAG 0.627000 11 33 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771893 99771893 + Missense_Mutation SNP C C G TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr1:99771893C>G uc001dse.3 + 6 1777 c.1619C>G c.(1618-1620)aCt>aGt p.T540S LPPR4_uc010oue.2_Missense_Mutation_p.T482S NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA. 540 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CCTGAGGAGACTCAGGAAAAC 0.557000 3 41 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47222329 47222329 + Missense_Mutation SNP C C A TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr2:47222329C>A uc010fbb.3 + 7 1424 c.1056C>A c.(1054-1056)agC>agA p.S352R TTC7A_uc002rvm.3_Missense_Mutation_p.S318R|TTC7A_uc002rvn.1_Missense_Mutation_p.S233R|TTC7A_uc002rvo.3_Missense_Mutation_p.S352R|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.S233R|TTC7A_uc002rvq.3_Missense_Mutation_p.S92R|TTC7A_uc002rvr.3_5'UTR NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA. 352 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) TCCTCATCAGCGAATCCATGG 0.607000 3 55 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141259265 141259265 + Silent SNP G G T TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr2:141259265G>T uc002tvj.1 - 54 9813 c.8841C>A c.(8839-8841)gtC>gtA p.V2947V NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2947 EGF-like 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.P2946P(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTTATAACTGACCGGAAGGT 0.353000 TSP Lung(27;0.18) 3 22 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870595 129870595 + Missense_Mutation SNP A A T TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr9:129870595A>T uc004bqr.1 - 1 916 c.416T>A c.(415-417)aTg>aAg p.M139K RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA. 139 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 CAGGAGCTGCATGTAGAGCTG 0.617000 4 56 0 0 1 0 0 LPPR3 79948 broad.mit.edu 37 19 813360 813362 + In_Frame_Del DEL TCC TCC - TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr19:813360_813362delTCC uc002lpw.1 - 6 1513_1515 c.1449_1451delGGA c.(1447-1452)gaggaa>gaa p.483_484EE>E LPPR3_uc021ulz.1_In_Frame_Del_p.91_92EE>E|LPPR3_uc002lpx.1_In_Frame_Del_p.455_456EE>E|LPPR3_uc002lpy.1_In_Frame_Del_p.236_237EE>E|MIR3187_uc021uma.1_5'Flank NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA. 455 integral to membrane phosphatidate phosphatase activity ctcctcctcttcctcctcctcct 0.759 2 4 --- --- --- --- TPRX1 284355 broad.mit.edu 37 19 48306192 48306193 + Frame_Shift_Ins INS - - C TCGA-BJ-A18Y-01A-11D-A13W-08 TCGA-BJ-A18Y-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bf73c27d-9f97-4b97-9b19-b602466e0c09 b7e081bc-12ae-40e0-b0da-f9a5c4efea75 g.chr19:48306192_48306193insC uc002php.2 - 1 215_216 c.75_76insG c.(73-78)cggctcfs p.R25fs NM_198479 NP_940881 Q8N7U7 TPRX1_HUMAN Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA. 25 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) TGCTGCTGGAGCCGCCGCTCCC 0.723 2 4 --- --- --- ---