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 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 ENST00000296499.5 + 2 1011 c.608G>T c.(607-609)cGt>cTt p.R203L NDST3_ENST00000433996.2_Missense_Mutation_p.R203L NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 203 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 0.004672 0.00645181 0.004672 1 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 ENST00000366757.3 + 5 853 c.829G>A c.(829-831)Gtg>Atg p.V277M NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 277 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 0.003080 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 ENST00000389082.5 - 5 1682 c.1418T>G c.(1417-1419)cTc>cGc p.L473R DENND5B_ENST00000306833.6_Missense_Mutation_p.L508R|DENND5B_ENST00000354285.4_Missense_Mutation_p.L495R|DENND5B_ENST00000536562.1_Missense_Mutation_p.L508R NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 473 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 0.004482 0 0 MT-CO2 4513 broad.mit.edu 37 MT 8190 8190 + 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.chrM:8190C>T ENST00000361739.1 + 1 605 c.605C>T c.(604-606)gCa>gTa p.A202V mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 AATCTGTGGAGCAAACCACAG 0.468000 9 40 0 0 0.008291 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 ENST00000319190.5 + 8 1424 c.1056C>A c.(1054-1056)agC>agA p.S352R TTC7A_ENST00000409245.1_Missense_Mutation_p.S318R|TTC7A_ENST00000394850.2_Missense_Mutation_p.S352R|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 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 0.004672 0.00645181 0.004672 1 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes 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.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 6 61 0 0 0.008291 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 ENST00000338315.4 + 9 927 c.927A>G c.(925-927)acA>acG p.T309T MFSD2B_ENST00000406420.3_Silent_p.T309T A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 309 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 TGTTCTGTACACATGCCTCCC 0.607000 14 20 0 0 0.004007 0 0 LPPR4 0 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 ENST00000370185.3 + 7 2116 c.1619C>G c.(1618-1620)aCt>aGt p.T540S LPPR4_ENST00000457765.1_Missense_Mutation_p.T482S|LPPR4_ENST00000370184.1_Missense_Mutation_p.T382S NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 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 0.004672 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 ENST00000373425.3 - 2 1033 c.416T>A c.(415-417)aTg>aAg p.M139K RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 139 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 0.001168 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 ENST00000417302.1 - 3 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 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). 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|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61K(61)|p.Q61R(1)|p.Q61E(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 5.57489e-27 9.51011e-27 0.003610 1 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 ENST00000220616.4 + 9 2077 c.2037C>T c.(2035-2037)ggC>ggT p.G679G TG_ENST00000377869.1_Silent_p.G679G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 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 0.006214 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 ENST00000389484.3 - 55 9812 c.8841C>A c.(8839-8841)gtC>gtA p.V2947V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2947 EGF-like 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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 6.4e-05 0.000103111 0.004672 1 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 ENST00000377871.3 - 7 1333 c.1067T>G c.(1066-1068)cTg>cGg p.L356R SLC22A6_ENST00000458333.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L356R|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L356R NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 356 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 0.001168 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 ENST00000369681.4 + 4 540 c.400G>A c.(400-402)Gct>Act p.A134T CYB5R4_ENST00000369679.4_Missense_Mutation_p.A100T NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 134 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 cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity 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 0.002450 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 ENST00000232888.6 - 10 914 c.841G>A c.(841-843)Gga>Aga p.G281R NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 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 0.006122 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA 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.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 4 84 0 0 0.000248 0 0 ASB5 140458 broad.mit.edu 37 4 177142728 177142728 + Silent SNP G G A rs61748176 byFrequency 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.chr4:177142728G>A ENST00000296525.3 - 4 521 c.408C>T c.(406-408)ggC>ggT p.G136G ASB5_ENST00000512254.1_Silent_p.G83G|ASB5_ENST00000511879.1_5'UTR NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 136 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ACGGAGTCACGCCATCTATCG 0.448000 4 51 0 0 0.000248 0 0 CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - 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.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 10 589 --- --- --- --- DUSP2 1844 broad.mit.edu 37 2 96809973 96809973 + Frame_Shift_Del DEL A 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.chr2:96809973delA ENST00000288943.4 - 3 735 c.650delT c.(649-651)tcfs p.F217fs NM_004418.3 NP_004409.1 Q05923 DUS2_HUMAN dual specificity phosphatase 2 217 endoderm formation|inactivation of MAPK activity|regulation of apoptosis nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity NS(1)|breast(1)|lung(2)|skin(1) 5 Ovarian(717;0.0228) CTTGTAGCGGAAAAGGCCCTC 0.602 7 222 --- --- --- --- C9orf114 51490 broad.mit.edu 37 9 131591119 131591120 + Frame_Shift_Ins INS - - 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.chr9:131591119_131591120insT ENST00000361256.5 - 3 142_143 c.102_103insA c.(100-105)aaggaafs p.E35fs NM_016390.3 NP_057474.2 Q5T280 CI114_HUMAN chromosome 9 open reading frame 114 35 kidney(2)|large_intestine(4)|ovary(1) 7 AGATCCTTCCATTTTTTTTTCT 0.525 8 352 --- --- --- --- RP11-897M7.1 0 broad.mit.edu 37 12 131962149 131962150 + RNA INS - - ATA rs76730224 by1000genomes 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.chr12:131962149_131962150insATA ENST00000535133.1 - 0 195 tggtaatggtggtgatgatggt 0.441 3 5 --- --- --- --- RP11-991C1.2 0 broad.mit.edu 37 14 95516588 95516610 + RNA DEL GGAAGGAAGGAAGGAAAGAAGAA GGAAGGAAGGAAGGAAAGAAGAA - rs36211516 by1000genomes 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.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA ENST00000554033.1 + 0 41 aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg 0.448 7 40 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93198679 93198684 + In_Frame_Del DEL TGGAGC TGGAGC - rs66488707 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.chr15:93198679_93198684delTGGAGC ENST00000327355.5 - 1 504_509 c.206_211delGCTCCA c.(205-213)aac>a p.SSN69del NM_207446.2 NP_997329.2 Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 69 integral to membrane endometrium(2)|lung(1) 3 CCACTGCTGTTGGAGCTGGAGCTGCC 0.714 2 4 --- --- --- --- LPPR3 0 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 ENST00000359894.2 - 7 1512_1514 c.1449_1451delGGA c.(1447-1452)gaa>ga p.EE485del LPPR3_ENST00000520876.3_In_Frame_Del_p.EE457del NM_024888.2 NP_079164.1 Q6T4P5 LPPR3_HUMAN 457 integral to membrane phosphatidate phosphatase activity ctcctcctcttcctcctcctcct 0.759 2 4 --- --- --- --- MIA-RAB4B 0 broad.mit.edu 37 19 41281673 41281674 + Frame_Shift_Ins INS - - G rs139650429 by1000genomes 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.chr19:41281673_41281674insG ENST00000600729.1 + 3 566_567 c.144_145insG c.(142-147)gctggcfs p.G49fs MIA_ENST00000594436.1_Frame_Shift_Ins_p.G49fs|MIA_ENST00000263369.3_Frame_Shift_Ins_p.G49fs|MIA_ENST00000597784.1_Frame_Shift_Ins_p.G49fs TCTCCATGGCTGTGGCCCTTCA 0.594 9 169 --- --- --- --- 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 ENST00000535759.1 - 4 365_366 c.366_367insG c.(364-369)cgtccafs p.P123fs TPRX1_ENST00000322175.3_Frame_Shift_Ins_p.P26fs|TPRX1_ENST00000543508.1_Frame_Shift_Ins_p.P26fs Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 26 Gly-rich. 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 --- --- --- ---