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 LINC00969 0 broad.mit.edu 37 3 195398271 195398271 + RNA SNP A A G rs142433257 by1000genomes TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr3:195398271A>G ENST00000445430.1 + 0 1088 GTGTGCAGGCACATGTGCACA 0.542000 4 19 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110932525 110932525 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr4:110932525G>A ENST00000265171.5 + 24 3983 c.3538G>A c.(3538-3540)Gag>Aag p.E1180K EGF_ENST00000503392.1_Missense_Mutation_p.E1139K|EGF_ENST00000509793.1_Missense_Mutation_p.E1138K NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1180 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGGGGGTGTCGAGAAGCCCCA 0.512000 46 58 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536429 1536429 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr16:1536429G>A ENST00000440447.2 - 3 574 c.503C>T c.(502-504)aCg>aTg p.T168M PTX4_ENST00000447419.2_Silent_p.Y316Y|PTX4_ENST00000293922.1_Silent_p.Y311Y Q96A99 PTX4_HUMAN pentraxin 4, long 0 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CCTCGGTGGCGTAGGACAGGA 0.667000 33 30 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075811 83075811 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr6:83075811G>A ENST00000369750.3 + 2 1750 c.1133G>A c.(1132-1134)cGc>cAc p.R378H TPBG_ENST00000535040.1_Missense_Mutation_p.R378H|TPBG_ENST00000543496.1_Missense_Mutation_p.R378H Q13641 TPBG_HUMAN trophoblast glycoprotein 378 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) TATTTGAACCGCAAGGGGATA 0.453000 52 45 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135312700 135312700 + Nonsense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chrX:135312700G>A ENST00000316077.9 - 10 1814 c.1594C>T c.(1594-1596)Cag>Tag p.Q532* MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q514*|MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q497* NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 532 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TGTGGTGACTGTTTTGAAATA 0.348000 50 63 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q265Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgttgctgctgct 0.537000 3 44 0 0 1 0 0 TRBV28 0 broad.mit.edu 37 7 142428774 142428774 + RNA SNP A A G TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr7:142428774A>G ENST00000390400.2 + 0 154 TGTGTCCAGGATATGGACCAT 0.423000 20 18 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 36 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212856 26212856 + Missense_Mutation SNP A A T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chrX:26212856A>T ENST00000379034.1 + 2 1042 c.893A>T c.(892-894)aAc>aTc p.N298I NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 298 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATCTTCATGAACGGCAACTGT 0.532000 70 112 0 0 1 0 0 SPTLC3 55304 broad.mit.edu 37 20 13071766 13071766 + Missense_Mutation SNP G G T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr20:13071766G>T ENST00000399002.2 + 5 917 c.643G>T c.(643-645)Gtg>Ttg p.V215L SPTLC3_ENST00000378194.4_Missense_Mutation_p.V215L NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 215 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GGAGGACCTTGTGGCTAAGTT 0.428000 50 53 2.81731e-22 2.97984e-22 1 1 0 PRICKLE2 166336 broad.mit.edu 37 3 64148708 64148708 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr3:64148708G>A ENST00000295902.6 - 3 827 c.242C>T c.(241-243)cCg>cTg p.P81L PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P137L NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 81 PET. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GTCATGTGGCGGCAGCTGGTG 0.463000 108 105 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85852729 85852729 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr2:85852729G>A ENST00000323701.6 + 5 648 c.638G>A c.(637-639)cGg>cAg p.R213Q USP39_ENST00000409025.1_Missense_Mutation_p.R213Q|USP39_ENST00000409766.3_Missense_Mutation_p.R213Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Missense_Mutation_p.R110Q|USP39_ENST00000409470.1_Missense_Mutation_p.R213Q NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 213 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 AAATTGTCCCGGGCATATGAT 0.433000 14 91 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401808 139401808 + Missense_Mutation SNP A A T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr9:139401808A>T ENST00000277541.6 - 22 3667 c.3592T>A c.(3592-3594)Tgc>Agc p.C1198S NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1198 EGF-like 31; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTCGAGGCAGGTGCCCCCG 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 14 2 0 0 1 0 0 IL13RA1 3597 broad.mit.edu 37 X 117895252 117895252 + Splice_Site SNP C C T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chrX:117895252C>T ENST00000371666.3 + 6 895 c.828_splice c.e6+1 p.Y276_splice IL13RA1_ENST00000371642.1_Silent_p.Y276Y|IL13RA1_ENST00000481868.1_3'UTR NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 276 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 ATGTTTTCTACGTAAGGTTTT 0.289000 61 97 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 43 35 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270872 1270872 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr16:1270872G>A ENST00000348261.5 + 35 7188 c.6940G>A c.(6940-6942)Gtc>Atc p.V2314I CACNA1H_ENST00000565831.1_Missense_Mutation_p.V2308I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V2308I NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 2314 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TCCCATGCCCGTCGGTGACCC 0.642000 38 47 0 0 1 0 0 ICOSLG 23308 broad.mit.edu 37 21 45651187 45651187 + Nonsense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr21:45651187G>A ENST00000407780.3 - 5 965 c.838C>T c.(838-840)Cga>Tga p.R280* ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R163*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R280*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R280* O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 280 B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) TGGAGGCATCGGTCCCTGCAC 0.562000 21 26 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19520806 19520806 + Missense_Mutation SNP T T C TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr5:19520806T>C ENST00000507958.1 - 12 2462 c.1472A>G c.(1471-1473)gAa>gGa p.E491G CDH18_ENST00000502796.1_Missense_Mutation_p.E491G|CDH18_ENST00000382275.1_Missense_Mutation_p.E491G|CDH18_ENST00000506372.1_Missense_Mutation_p.E491G|CDH18_ENST00000511273.1_Missense_Mutation_p.E491G|CDH18_ENST00000274170.4_Missense_Mutation_p.E491G Q13634 CAD18_HUMAN cadherin 18, type 2 491 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AATATCATATTCCCTGGCAAG 0.388000 46 49 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9020559 9020559 + Missense_Mutation SNP C C T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr12:9020559C>T ENST00000299698.7 + 30 4019 c.3839C>T c.(3838-3840)tCa>tTa p.S1280L A2ML1_ENST00000539547.1_Missense_Mutation_p.S789L NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1124 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 AACATACAGTCAGTTAACAGA 0.488000 33 42 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103063658 103063658 + Missense_Mutation SNP A A G TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr2:103063658A>G ENST00000264260.2 + 10 1790 c.1201A>G c.(1201-1203)Acg>Gcg p.T401A IL18RAP_ENST00000409369.1_Missense_Mutation_p.T259A NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 401 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 CAAGGATCAGACGCTTGGGGG 0.557000 56 90 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34825143 34825143 + Missense_Mutation SNP C C T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr6:34825143C>T ENST00000192788.5 + 12 1640 c.1469C>T c.(1468-1470)aCa>aTa p.T490I UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T490I NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 490 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AAGCCATCTACACTCCTTTCC 0.438000 19 75 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151677561 151677561 + Missense_Mutation SNP T T C TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr1:151677561T>C ENST00000290583.4 - 12 2147 c.1354A>G c.(1354-1356)Aaa>Gaa p.K452E CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.K247E|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.K402E NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 452 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 AGCTGGACTTTGAGGCGCTTC 0.627000 22 29 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70507707 70507707 + Missense_Mutation SNP C C T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr11:70507707C>T ENST00000338508.4 - 22 1932 c.1933G>A c.(1933-1935)Gcc>Acc p.A645T SHANK2_ENST00000423696.2_Missense_Mutation_p.A265T|SHANK2_ENST00000409530.1_Missense_Mutation_p.A55T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A55T|SHANK2_ENST00000449116.2_Missense_Mutation_p.A56T|SHANK2_ENST00000357171.3_Missense_Mutation_p.A56T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A56T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 265 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TTACCTTTGGCCCCTCGAAGC 0.502000 4 111 0 0 1 0 0 GOPC 57120 broad.mit.edu 37 6 117892068 117892068 + Silent SNP A A T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr6:117892068A>T ENST00000535237.1 - 6 1096 c.867T>A c.(865-867)gtT>gtA p.V289V GOPC_ENST00000052569.6_Silent_p.V281V|GOPC_ENST00000368498.2_Silent_p.V289V|GOPC_ENST00000467125.1_5'UTR golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TAAGGAGGAGAACTTTTCTAA 0.343000 O ROS1 glioblastoma 11 56 0 0 1 0 0 SYAP1 94056 broad.mit.edu 37 X 16773205 16773205 + Nonsense_Mutation SNP T T A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chrX:16773205T>A ENST00000380155.3 + 6 806 c.713T>A c.(712-714)tTg>tAg p.L238* NM_032796.3 NP_116185.2 Q96A49 SYAP1_HUMAN synapse associated protein 1 238 endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1) 10 Hepatocellular(33;0.0997) GAGCAAGATTTGCCGCTGGCA 0.517000 32 58 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27688135 27688135 + Silent SNP A A G TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr10:27688135A>G ENST00000438700.3 - 4 1509 c.1392T>C c.(1390-1392)tcT>tcC p.S464S NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 464 SSD. spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TATGCCAGGCAGAAATCATGA 0.368000 24 42 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85942758 85942758 + Missense_Mutation SNP G G T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr16:85942758G>T ENST00000268638.5 + 3 759 c.337G>T c.(337-339)Gtt>Ttt p.V113F IRF8_ENST00000563180.1_Missense_Mutation_p.V113F NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 113 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) TTACCGAATTGTTCCTGAGGA 0.493000 20 27 9.95505e-16 1.01394e-15 1 1 0 LRRK1 79705 broad.mit.edu 37 15 101589864 101589864 + Silent SNP C C T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr15:101589864C>T ENST00000284395.5 + 24 3706 c.3306C>T c.(3304-3306)gaC>gaT p.D1102D LRRK1_ENST00000388948.3_Silent_p.D1105D Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1105 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AATCTTCCGACGTGAACTGGA 0.507000 27 26 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54275530 54275530 + Missense_Mutation SNP G G T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chrX:54275530G>T ENST00000354646.2 - 17 3689 c.3251C>A c.(3250-3252)cCa>cAa p.P1084Q WNK3_ENST00000375159.2_Missense_Mutation_p.P1084Q|WNK3_ENST00000375169.3_Missense_Mutation_p.P1084Q NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1084 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 AAGGGTAGTTGGTTCAAGGCC 0.433000 33 39 3.80469e-20 3.94827e-20 1 1 0 ISM1 140862 broad.mit.edu 37 20 13260457 13260457 + Silent SNP C C T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr20:13260457C>T ENST00000262487.3 + 3 561 c.555C>T c.(553-555)gaC>gaT p.D185D TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 185 extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 GTACCTCAGACGACAGCAACT 0.597000 15 33 0 0 1 0 0 PRICKLE1 0 broad.mit.edu 37 12 42860025 42860025 + Missense_Mutation SNP T T C TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr12:42860025T>C ENST00000455697.1 - 6 1031 c.746A>G c.(745-747)gAg>gGg p.E249G PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E249G|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E249G NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 249 LIM zinc-binding 2.|LIM zinc-binding 3. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) TTCACAGTACTCCGCATAGAG 0.512000 27 3 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197521413 197521413 + Missense_Mutation SNP G G A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr2:197521413G>A ENST00000389175.4 + 3 368 c.233G>A c.(232-234)aGt>aAt p.S78N CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR|CCDC150_ENST00000423093.2_Intron NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 78 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 AAAGTCATTAGTCCTATCCAA 0.388000 14 18 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 70 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609657 84609657 + Silent SNP T T C TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr9:84609657T>C ENST00000344803.2 + 4 4319 c.4272T>C c.(4270-4272)gaT>gaC p.D1424D NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 ATGGGATAGATATCACCTGTC 0.517000 13 19 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596567 48596567 + Missense_Mutation SNP C C T TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr12:48596567C>T ENST00000310248.2 - 1 603 c.509G>A c.(508-510)cGc>cAc p.R170H NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 GTTGTCTCTGCGGAAGGGCTC 0.502000 7 18 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133911126 133911126 + Missense_Mutation SNP A A G TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr8:133911126A>G ENST00000220616.4 + 14 3341 c.3301A>G c.(3301-3303)Aaa>Gaa p.K1101E TG_ENST00000377869.1_Missense_Mutation_p.K1101E NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1101 Thyroglobulin type-1 9. 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) CCCATCTCCAAAAGACCTGTT 0.527000 8 14 0 0 1 0 0 FUBP1 8880 broad.mit.edu 37 1 78428491 78428491 + Frame_Shift_Del DEL T T - TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr1:78428491delT ENST00000370767.1 - 14 1395 c.1308delA c.(1306-1308)atfs p.I436fs FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I436fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I457fs Q96AE4 FUBP1_HUMAN far upstream element (FUSE) binding protein 1 436 KH 4. transcription from RNA polymerase II promoter nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3) 17 GAGCATAGTCTATCTGTTGTG 0.373 """F, N""" oligodendroglioma 45 4 --- --- --- --- ITSN2 50618 broad.mit.edu 37 2 24524110 24524111 + Splice_Site INS - - A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr2:24524110_24524111insA ENST00000355123.4 - 11 1439 c.e11-2 ITSN2_ENST00000406921.3_Splice_Site|ITSN2_ENST00000361999.3_Splice_Site NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCCTCCTCTAAAAAAATCAA 0.366 25 44 --- --- --- --- POTEE 445582 broad.mit.edu 37 2 131984464 131984465 + Frame_Shift_Ins INS - - A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr2:131984464_131984465insA ENST00000356920.5 + 4 973_974 c.879_880insA c.(877-882)aaaaaafs p.KK293fs PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Frame_Shift_Ins_p.KK303fs|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 293 ATP binding TTTTAATCAAGAAAAAAGCGAA 0.342 37 116 --- --- --- --- CENPE 1062 broad.mit.edu 37 4 104061011 104061013 + In_Frame_Del DEL TCC TCC - TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr4:104061011_104061013delTCC ENST00000265148.3 - 38 6226_6228 c.6137_6139delGGA c.(6136-6141)ata>a p.RI2046del CENPE_ENST00000380026.3_Intron NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 2046 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GATTCTTTTATCCTCCTTAGCTC 0.360 30 49 --- --- --- --- RP11-556I14.1 0 broad.mit.edu 37 4 105918246 105918247 + RNA INS - - TTT rs145057012 TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr4:105918246_105918247insTTT ENST00000506386.1 + 0 71 tttttttttccttttttttttt 0.317 3 2 --- --- --- --- RXFP2 122042 broad.mit.edu 37 13 32367130 32367131 + Frame_Shift_Ins INS - - A TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr13:32367130_32367131insA ENST00000298386.2 + 16 1762_1763 c.1691_1692insA c.(1690-1692)gaafs p.E564fs RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.E540fs NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 564 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) GATTATTTTGGAAACTTTTATG 0.366 32 50 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293153 102293155 + RNA DEL CTC CTC - rs4965539 TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr15:102293153_102293155delCTC ENST00000561463.1 + 0 1199_1201 AGTTCATCTTCTCAGAGCTGCTG 0.571 2 4 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28834658 28834659 + Frame_Shift_Ins INS - - C TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr16:28834658_28834659insC ENST00000336783.4 + 1 245_246 c.78_79insC c.(76-81)cgccccfs p.RP26fs ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.RP26fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.RP26fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 26 Pro-rich. membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 TGGCCCGTCGGCCCCCCGGGGG 0.762 2 4 --- --- --- --- HSD11B1L 374875 broad.mit.edu 37 19 5687962 5687962 + Frame_Shift_Del DEL G G - TCGA-TM-A84G-01A-11D-A36O-08 TCGA-TM-A84G-10A-01D-A367-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31f23d3a-3c7b-4db9-9048-ab061255cb7f d2e98258-f98c-4259-bcdb-6d332a2f803e g.chr19:5687962delG ENST00000577917.1 + 6 982 c.461delG c.(460-462)cgfs p.R154fs HSD11B1L_ENST00000342970.2_3'UTR|HSD11B1L_ENST00000339423.2_3'UTR|HSD11B1L_ENST00000423665.2_Frame_Shift_Del_p.R235fs|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000411793.2_Frame_Shift_Del_p.R101fs|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000581893.1_3'UTR|HSD11B1L_ENST00000581773.1_3'UTR|HSD11B1L_ENST00000301382.4_3'UTR|HSD11B1L_ENST00000581521.1_3'UTR|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000583928.1_3'UTR NM_001267871.1|NM_198705.2|NM_198708.2 NP_001254800.1|NP_941994.1|NP_941997.1 Q7Z5J1 DHI1L_HUMAN hydroxysteroid (11-beta) dehydrogenase 1-like 235 extracellular region binding|oxidoreductase activity CCTGAGCACCGGGGGGTGCCC 0.682 2 4 --- --- --- ---