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 SLC9A6 10479 broad.mit.edu 37 X 135106617 135106617 + Missense_Mutation SNP G G C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chrX:135106617G>C uc004ezk.3 + 11 1667 c.1591G>C c.(1591-1593)Gca>Cca p.A531P SLC9A6_uc011mvx.2_Missense_Mutation_p.A479P|SLC9A6_uc004ezj.3_Missense_Mutation_p.A499P NM_001042537 NP_001036002 Q92581 SL9A6_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA. 499 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TGGCACCACTGCAATGCTGTC 0.393000 58 151 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40268678 40268678 + Silent SNP C C A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr15:40268678C>A uc001zkm.1 + 11 1932 c.1882C>A c.(1882-1884)Cgg>Agg p.R628R EIF2AK4_uc010bbj.1_Silent_p.R357R NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA. 628 Protein kinase 2. translation cytosolic ribosome ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CCCGGCCAGCCGGCAGTTCCG 0.632000 3 79 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26508106 26508106 + Missense_Mutation SNP C C T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr10:26508106C>T uc001isp.2 + 3 924 c.421C>T c.(421-423)Ctt>Ttt p.L141F GAD2_uc009xkr.3_Missense_Mutation_p.L141F|GAD2_uc001isq.2_Missense_Mutation_p.L141F NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 141 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) TCCTAATGAGCTTCTCCAAGA 0.343000 20 174 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233990613 233990613 + Missense_Mutation SNP A A T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr2:233990613A>T uc010zmo.2 + 3 661 c.508A>T c.(508-510)Agc>Tgc p.S170C INPP5D_uc010zmp.2_Missense_Mutation_p.S169C NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 170 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCGACTGCAAAGCATGGACAC 0.602000 7 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074980 9074980 + Missense_Mutation SNP T T C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr19:9074980T>C uc002mkp.3 - 2 12670 c.12466A>G c.(12466-12468)Acc>Gcc p.T4156A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4158 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T4156T(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGAGCTGGTTTCTTCCACA 0.493000 20 104 0 0 1 0 0 FMNL3 91010 broad.mit.edu 37 12 50050234 50050234 + Nonsense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr12:50050234G>A uc001ruv.1 - 8 1072 c.838C>T c.(838-840)Cga>Tga p.R280* FMNL3_uc001ruw.1_Nonsense_Mutation_p.R229*|FMNL3_uc001ruu.1_Nonsense_Mutation_p.R130* NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA. 280 GBD/FH3. actin cytoskeleton organization Rho GTPase binding|actin binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 TGACCTCCTCGCACCAAACAC 0.507000 3 52 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43311541 43311541 + Silent SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr17:43311541G>A uc002iin.3 + 5 788 c.588G>A c.(586-588)gtG>gtA p.V196V FMNL1_uc002iio.3_Silent_p.V141V NM_005892 NP_005883 O95466 FMNL_HUMAN Homo sapiens formin-like 1 (FMNL1), mRNA. 196 GBD/FH3. actin cytoskeleton organization Rho GTPase binding|actin binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 CCTCCTCCGTGCCCAAAAGCC 0.572000 44 66 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80043235 80043235 + Missense_Mutation SNP A A T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr17:80043235A>T uc002kdu.3 - 23 4283 c.4166T>A c.(4165-4167)gTg>gAg p.V1389E FASN_uc002kdw.1_Missense_Mutation_p.V605E NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 1389 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CTTCAGGCCCACCAGGCGCAG 0.701000 6 15 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130106562 130106562 + Missense_Mutation SNP A A G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr9:130106562A>G uc011mae.2 + 14 1701 c.1300A>G c.(1300-1302)Aag>Gag p.K434E GARNL3_uc011mad.2_Missense_Mutation_p.K412E|GARNL3_uc004bqt.1_Missense_Mutation_p.K215E NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA. 434 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity p.Q434K(1) NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 AGAGTCACCCAAGTCAGCGCG 0.423000 17 280 0 0 1 0 0 SNAI2 6591 broad.mit.edu 37 8 49832563 49832563 + Missense_Mutation SNP C C T TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr8:49832563C>T uc003xqp.3 - 1 692 c.517G>A c.(517-519)Gcc>Acc p.A173T NM_003068 NP_003059 O43623 SNAI2_HUMAN Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA. 173 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) ATCTTCAGGGCGCCCAGGCTC 0.483000 34 52 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150278070 150278070 + Missense_Mutation SNP T T C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr5:150278070T>C uc021yfx.1 - 4 538 c.110A>G c.(109-111)gAg>gGg p.E37G ZNF300_uc021yfy.1_Missense_Mutation_p.E21G|ZNF300_uc021yfz.1_5'UTR NM_001172831 NP_001166303 Q96RE9 ZN300_HUMAN Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA. 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGCTGCCACTCCTCCTGGGT 0.463000 42 224 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54776381 54776381 + Missense_Mutation SNP G G A rs149644769 byFrequency TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chrX:54776381G>A uc004dtj.2 - 12 3919 c.3889C>T c.(3889-3891)Cgc>Tgc p.R1297C NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA. 1297 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ACATGAGAGCGCTTCACCAGC 0.577000 4 57 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117234990 117234990 + Missense_Mutation SNP T T C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr7:117234990T>C uc003vjd.3 + 14 2629 c.2497T>C c.(2497-2499)Ttt>Ctt p.F833L CFTR_uc011knq.2_Missense_Mutation_p.F239L NM_000492 NP_000483 P13569 CFTR_HUMAN Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA. 833 F -> L (in Ref. 1; AAA35680). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCAGGAGTGCTTTTTTGATGA 0.323000 Cystic Fibrosis 3 107 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180849246 180849246 + Missense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:180849246G>A uc001goi.3 + 13 2035 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K XPR1_uc009wxn.3_Missense_Mutation_p.E550K NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA. 615 EXS. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 CCTGGAGAATGAACATCTGAA 0.458000 45 51 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208234068 208234068 + Missense_Mutation SNP A A G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:208234068A>G uc001hgz.3 - 12 3459 c.2701T>C c.(2701-2703)Tgc>Cgc p.C901R NM_025179 NP_079455 O75051 PLXA2_HUMAN Homo sapiens plexin A2 (PLXNA2), mRNA. 901 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) AGGGGCGTGCAGGGCACCCCA 0.637000 3 52 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160225058 160225058 + Missense_Mutation SNP G G C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr6:160225058G>C uc003qsy.1 + 4 349 c.310G>C c.(310-312)Gaa>Caa p.E104Q PNLDC1_uc003qsx.1_Missense_Mutation_p.E93Q NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA. 93 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTTGGACTCAGAATTCTCCTT 0.398000 100 184 0 0 1 0 0 LRSAM1 90678 broad.mit.edu 37 9 130253549 130253549 + Missense_Mutation SNP A A G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr9:130253549A>G uc004brb.2 + 19 1850 c.1478A>G c.(1477-1479)aAg>aGg p.K493R LRSAM1_uc010mxk.2_Intron|LRSAM1_uc004brc.2_Missense_Mutation_p.K493R|LRSAM1_uc004brd.2_Missense_Mutation_p.K493R|LRSAM1_uc004bre.2_Missense_Mutation_p.K73R NM_001005373 NP_612370 Q6UWE0 LRSM1_HUMAN Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA. 493 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 TTAAAGAGGAAGTCCCTGGAC 0.507000 4 75 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696667 47696667 + Missense_Mutation SNP G G C TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr17:47696667G>C uc010dbk.3 - 4 913 c.281C>G c.(280-282)cCa>cGa p.P94R SPOP_uc002ipg.3_Missense_Mutation_p.P94R|SPOP_uc002ipb.3_Missense_Mutation_p.P94R|SPOP_uc002ipc.3_Missense_Mutation_p.P94R|SPOP_uc002ipd.3_Missense_Mutation_p.P94R|SPOP_uc002ipe.3_Missense_Mutation_p.P94R|SPOP_uc002ipf.3_Missense_Mutation_p.P94R NM_003563 NP_003554 O43791 SPOP_HUMAN Homo sapiens speckle-type POZ protein (SPOP), transcript variant 2, mRNA. 94 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTCACTCTTTGGACAGCTGAC 0.413000 Prostate(2;0.17) 45 89 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17914071 17914071 + Missense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr1:17914071G>A uc001ban.3 + 2 313 c.154G>A c.(154-156)Gtc>Atc p.V52I ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V52I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V52I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V52I|ARHGEF10L_uc010ocr.1_5'Flank NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 52 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGCCCTGGGCGTCCCCAGCCT 0.597000 5 304 0 0 1 0 0 TTC36 143941 broad.mit.edu 37 11 118398234 118398234 + Missense_Mutation SNP G G A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr11:118398234G>A uc001ptg.1 + 0 25 c.25G>A c.(25-27)Gtg>Atg p.V9M TTC36_uc010ryb.1_Non-coding_Transcript|TTC36_uc010ryc.1_5'UTR NM_001080441 NP_001073910 A6NLP5 TTC36_HUMAN Homo sapiens tetratricopeptide repeat domain 36 (TTC36), mRNA. 9 binding lung(2) 2 TGATCAGGCAGTGCTGCAGGC 0.537000 4 285 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9463306 9463306 + Missense_Mutation SNP C C G TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr2:9463306C>G uc002qzh.2 + 5 867 c.527C>G c.(526-528)aCt>aGt p.T176S ASAP2_uc002qzi.2_Missense_Mutation_p.T176S NM_003887 NP_003878 O43150 ASAP2_HUMAN Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA. 176 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding p.R175L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 ATGATTCGGACTGAAATAAGC 0.498000 88 137 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140180926 140180926 + Silent SNP C C A TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr5:140180926C>A uc003lhf.2 + 0 144 c.144C>A c.(142-144)atC>atA p.I48I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.I48I NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 61 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCCGCATCGCGCAGGACC 0.647000 4 142 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136574959 136574959 + Silent SNP G G A rs142388926 TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr2:136574959G>A uc002tuu.1 - 5 1670 c.1659C>T c.(1657-1659)acC>acT p.T553T NM_002299 NP_002290 P09848 LPH_HUMAN Homo sapiens lactase (LCT), mRNA. 553 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GGTGCTGGCCGGTGCCATAGC 0.572000 3 94 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133899146 133899149 + Frame_Shift_Del DEL TGAA TGAA - TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr8:133899146_133899149delTGAA uc003ytw.3 + 8 1570_1573 c.1529_1532delTGAA c.(1528-1533)ttgaatfs p.L510fs NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 510 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) GCAAGCTTCTTGAATGGAGGGAGA 0.451 35 54 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8733812 8733814 + In_Frame_Del DEL AGC AGC - TCGA-EM-A3FR-01A-11D-A21Z-08 TCGA-EM-A3FR-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bae2f08-da75-4991-acb8-5ba9912f9131 d2f5c569-964a-4cb4-a77e-a3df7bfbe36a g.chr9:8733812_8733814delAGC uc003zkk.3 - 11 773_775 c.30_32delGCT c.(28-33)ctgctc>ctc p.10_11LL>L PTPRD_uc003zkp.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkq.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkr.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zks.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc022bdj.1_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkt.1_In_Frame_Del_p.10_11LL>L NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 10 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GAAAGTGAGGAGCAGCAGCAGCA 0.591 TSP Lung(15;0.13) 2 4 --- --- --- ---