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 PCSK1 5122 broad.mit.edu 37 5 95735751 95735751 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr5:95735751C>T ENST00000311106.3 - 10 1573 c.1336G>A c.(1336-1338)Gcc>Acc p.A446T PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A399T|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 446 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGAGCTTTGGCATTTAGCAAG 0.493000 47 49 0 0 1 0 0 ITGA6 0 broad.mit.edu 37 2 173292654 173292654 + Silent SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:173292654C>T ENST00000375221.2 + 1 341 c.138C>T c.(136-138)ttC>ttT p.F46F ITGA6_ENST00000343713.4_Silent_p.F46F|ITGA6_ENST00000264106.6_Silent_p.F46F|ITGA6_ENST00000264107.7_Silent_p.F46F|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000409080.1_Silent_p.F46F|AC078883.4_ENST00000441212.1_RNA P23229 ITA6_HUMAN integrin, alpha 6 46 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TCTTCGGCTTCTCGCTGGCCA 0.672000 19 39 0 0 1 0 0 POC1B 282809 broad.mit.edu 37 12 89864264 89864264 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr12:89864264G>A ENST00000393179.4 - 5 907 c.294C>T c.(292-294)agC>agT p.S98S POC1B_ENST00000549035.1_Silent_p.S186S|POC1B_ENST00000313546.3_Silent_p.S228S|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Silent_p.S98S|POC1B_ENST00000378528.2_Intron POC1 centriolar protein B endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 14 TAACTCCACCGCTGTGAACTG 0.388000 3 68 0 0 1 0 0 ITGAL 0 broad.mit.edu 37 16 30510706 30510706 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr16:30510706C>T ENST00000356798.6 + 17 2221 c.2041C>T c.(2041-2043)Cgg>Tgg p.R681W RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R598W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R77W NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 681 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGATGGCCACCGGACCAGAAG 0.537000 57 185 0 0 1 0 0 VWA2 340706 broad.mit.edu 37 10 116045883 116045883 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr10:116045883G>A ENST00000603594.1 + 11 1504 c.1183G>A c.(1183-1185)Gtg>Atg p.V395M VWA2_ENST00000392982.3_Missense_Mutation_p.V395M NM_001272046.1 NP_001258975.1 Q5GFL6 VWA2_HUMAN von Willebrand factor A domain containing 2 395 VWFA 2. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) GCTGGTGGCGGTGCCTGTGGG 0.662000 4 177 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 4 70 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26695087 26695087 + Missense_Mutation SNP A A C TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr22:26695087A>C ENST00000529632.2 + 5 1496 c.1300A>C c.(1300-1302)Atc>Ctc p.I434L SEZ6L_ENST00000248933.6_Missense_Mutation_p.I434L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.I207L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.I434L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.I434L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.I434L NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 434 Sushi 1. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCTGACATGCATCAATGCCTC 0.597000 7 25 0 0 1 0 0 SMCO1 255798 broad.mit.edu 37 3 196235046 196235046 + Silent SNP T T C TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr3:196235046T>C ENST00000397537.2 - 3 513 c.357A>G c.(355-357)agA>agG p.R119R NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 CCCATACAACTCTAACGCGCT 0.483000 25 73 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40342768 40342768 + Splice_Site SNP G G T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:40342768G>T ENST00000406785.1 - 8 2628 c.2437_splice c.e8-1 p.D813_splice SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Splice_Site_p.D844_splice|SLC8A1_ENST00000542024.1_Splice_Site_p.D813_splice|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.D841_splice|SLC8A1_ENST00000406391.2_Splice_Site_p.D813_splice|SLC8A1_ENST00000405901.3_Splice_Site_p.D844_splice|SLC8A1_ENST00000405269.1_Splice_Site_p.D813_splice|SLC8A1_ENST00000403092.1_Splice_Site_p.D849_splice|SLC8A1_ENST00000402441.1_Splice_Site_p.D813_splice|SLC8A1_ENST00000332839.4_Splice_Site_p.D849_splice P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 849 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TGGCAAATGTGTCTGCAGAGG 0.507000 16 49 2.89027e-11 3.03126e-11 1 1 0 ALB 213 broad.mit.edu 37 4 74274412 74274412 + Missense_Mutation SNP A A T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr4:74274412A>T ENST00000295897.4 + 4 461 c.372A>T c.(370-372)gaA>gaT p.E124D ALB_ENST00000415165.2_Intron|ALB_ENST00000401494.3_Intron|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E124D NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 124 Albumin 1. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AGAGAAATGAATGCTTCTTGC 0.433000 14 35 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23927314 23927314 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:23927314G>A ENST00000402377.3 - 4 1179 c.1038C>T c.(1036-1038)gcC>gcT p.A346A ZNF681_ENST00000395385.3_Silent_p.A277A NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ACTGGTTAAAGGCTTTGCCAC 0.433000 3 73 0 0 1 0 0 MEF2B 100271849 broad.mit.edu 37 19 19258532 19258532 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:19258532G>A ENST00000602424.2 - 6 1094 c.368C>T c.(367-369)cCg>cTg p.P123L MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P140L|MEF2B_ENST00000424583.2_Missense_Mutation_p.P123L|MEF2B_ENST00000410050.1_Missense_Mutation_p.P123L|MEF2B_ENST00000409447.2_Missense_Mutation_p.P123L|MEF2B_ENST00000409224.1_Missense_Mutation_p.P126L|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P123L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.P123L NM_005919.3 NP_005910.1 myocyte enhancer factor 2B breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) GGGCAAGGCCGGATCACCCCC 0.627000 3 114 0 0 1 0 0 ETS1 2113 broad.mit.edu 37 11 128332410 128332410 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr11:128332410C>T ENST00000392668.3 - 10 1372 c.1304G>A c.(1303-1305)cGt>cAt p.R435H ETS1_ENST00000319397.5_Missense_Mutation_p.R391H|ETS1_ENST00000526145.1_Missense_Mutation_p.R304H|ETS1_ENST00000345075.4_Missense_Mutation_p.R304H|ETS1_ENST00000531611.1_3'UTR|ETS1_ENST00000535549.1_Missense_Mutation_p.R175H NM_001143820.1 NP_001137292.1 P14921 ETS1_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 1 391 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3) 35 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GCGTAGGCCACGGCTCAGTTT 0.458000 21 42 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67237636 67237636 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr16:67237636G>A ENST00000393997.2 + 20 2235 c.2178G>A c.(2176-2178)ctG>ctA p.L726L ELMO3_ENST00000477898.1_Silent_p.L560L|ELMO3_ENST00000360833.1_Silent_p.L709L NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 673 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) AGACACGGCTGGACCTGGAGC 0.672000 4 139 0 0 1 0 0 CAPS 828 broad.mit.edu 37 19 5915243 5915243 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:5915243G>A ENST00000588776.1 + 5 3105 c.738G>A c.(736-738)gcG>gcA p.A246A CAPS_ENST00000222125.5_Silent_p.A160A|CAPS_ENST00000452990.2_Silent_p.A133A Q13938 CAYP1_HUMAN calcyphosine 160 intracellular signal transduction cytoplasm calcium ion binding cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 4 TCACACTGGCGGAATTCCAGG 0.667000 18 37 0 0 1 0 0 STOML2 30968 broad.mit.edu 37 9 35102741 35102741 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr9:35102741G>A ENST00000356493.5 - 2 187 c.125C>T c.(124-126)cCg>cTg p.P42L STOML2_ENST00000452248.2_Missense_Mutation_p.P42L NM_013442.1 NP_038470.1 Q9UJZ1 STML2_HUMAN stomatin (EPB72)-like 2 42 cytoskeleton receptor binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1) 16 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTCCTGCTGCGGCACGAACAG 0.642000 52 111 0 0 1 0 0 ZNF414 84330 broad.mit.edu 37 19 8576745 8576745 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:8576745G>A ENST00000393927.4 - 5 743 c.630C>T c.(628-630)ccC>ccT p.P210P ZNF414_ENST00000255616.8_Silent_p.P210P NM_001146175.1 NP_001139647.1 Q96IQ9 ZN414_HUMAN zinc finger protein 414 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 CCAGGGCCGGGGGTGGCGGCG 0.726000 3 5 0 0 1 0 0 TMEM50B 757 broad.mit.edu 37 21 34839360 34839360 + Missense_Mutation SNP C C A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr21:34839360C>A ENST00000542230.2 - 3 383 c.169G>T c.(169-171)Gcc>Tcc p.A57S NM_006134.6 NP_006125.2 P56557 TM50B_HUMAN transmembrane protein 50B 57 endoplasmic reticulum|integral to membrane|plasma membrane breast(1)|kidney(1)|ovary(1)|skin(1) 4 GTGTGAAAGGCATGGTTCAAC 0.368000 3 101 0.014758 0.0151094 1 1 0 FLNC 2318 broad.mit.edu 37 7 128494189 128494189 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr7:128494189G>A ENST00000325888.8 + 40 6907 c.6646G>A c.(6646-6648)Gac>Aac p.D2216N RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.D2183N NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2216 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GGTCGGCGGGGACCCCTTCCC 0.697000 30 38 0 0 1 0 0 GPT 2875 broad.mit.edu 37 8 145730778 145730778 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr8:145730778G>A ENST00000394955.2 + 5 868 c.645G>A c.(643-645)gcG>gcA p.A215A GPT_ENST00000528431.1_Silent_p.A215A NM_005309.2 NP_005300.1 P24298 ALAT1_HUMAN glutamic-pyruvate transaminase (alanine aminotransferase) 215 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTGCCTGGGCGCTGGACGTGG 0.672000 3 39 0 0 1 0 0 SLC25A33 84275 broad.mit.edu 37 1 9642501 9642501 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr1:9642501C>T ENST00000302692.6 + 7 1118 c.908C>T c.(907-909)gCc>gTc p.A303V NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier), member 33 303 transport integral to membrane|mitochondrial inner membrane endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1) 9 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) CCAAATACTGCCATTGTGTTG 0.453000 7 20 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830986 4830986 + Silent SNP G G T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr7:4830986G>T ENST00000348624.4 + 17 2488 c.2394G>T c.(2392-2394)gtG>gtT p.V798V AP5Z1_ENST00000490487.1_3'UTR NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 798 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GCCGGCTGGTGGAGAGGGAGG 0.667000 18 28 1.02788e-11 1.10497e-11 1 1 0 GJA8 2703 broad.mit.edu 37 1 147380580 147380580 + Silent SNP C C A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr1:147380580C>A ENST00000240986.4 + 2 551 c.498C>A c.(496-498)atC>atA p.I166I GJA8_ENST00000369235.1_Silent_p.I166I NM_005267.4 NP_005258.2 P48165 CXA8_HUMAN gap junction protein, alpha 8, 50kDa 166 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) TGGGCTTCATCGTGGGCCACT 0.607000 101 144 9.33504e-39 1.02925e-38 1 1 0 GPR135 64582 broad.mit.edu 37 14 59930877 59930877 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr14:59930877G>A ENST00000395116.1 - 1 1183 c.1068C>T c.(1066-1068)gcC>gcT p.A356A NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 356 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) GGGCCTGCCGGGCGGCGGCCA 0.667000 5 16 0 0 1 0 0 EFNB1 1947 broad.mit.edu 37 X 68060182 68060182 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chrX:68060182G>A ENST00000204961.4 + 5 1506 c.726G>A c.(724-726)gcG>gcA p.A242A NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 242 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 CATTGTTCGCGGCTGTCGGTG 0.587000 9 36 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88679156 88679156 + Missense_Mutation SNP T T G TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr15:88679156T>G ENST00000394480.1 - 9 1202 c.881A>C c.(880-882)aAt>aCt p.N294T NTRK3_ENST00000540489.2_Missense_Mutation_p.N294T|NTRK3_ENST00000558676.1_Missense_Mutation_p.N294T|NTRK3_ENST00000360948.2_Missense_Mutation_p.N294T|NTRK3_ENST00000557856.1_Missense_Mutation_p.N294T|NTRK3_ENST00000542733.2_Missense_Mutation_p.N196T|NTRK3_ENST00000357724.2_Missense_Mutation_p.N294T|NTRK3_ENST00000317501.3_Missense_Mutation_p.N294T|NTRK3_ENST00000355254.2_Missense_Mutation_p.N294T NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 294 Ig-like C2-type 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) AACACTGGCATTGCTCATGCC 0.542000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 33 63 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57553705 57553705 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr12:57553705G>A ENST00000243077.3 + 12 2362 c.1896G>A c.(1894-1896)ctG>ctA p.L632L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 632 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGGCCAGGCTGGAGAAAGCTG 0.567000 3 130 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123185435 123185435 + Silent SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr4:123185435C>T ENST00000264501.4 + 45 7543 c.7170C>T c.(7168-7170)ccC>ccT p.P2390P KIAA1109_ENST00000455637.1_Silent_p.P2390P|KIAA1109_ENST00000388738.3_Silent_p.P2390P Q2LD37 K1109_HUMAN KIAA1109 2390 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CAACAATACCCTCAGCCTCAG 0.398000 27 64 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61941834 61941834 + Silent SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr20:61941834C>T ENST00000422202.1 + 10 1454 c.1386C>T c.(1384-1386)ggC>ggT p.G462G COL20A1_ENST00000326996.6_Silent_p.G455G|COL20A1_ENST00000435874.1_Silent_p.G462G|COL20A1_ENST00000358894.6_Silent_p.G455G Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 455 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GCGGGGTTGGCGAAGGCCTGC 0.687000 3 12 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 3 57 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 53 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769205 37769205 + Silent SNP G G A rs148494870 by1000genomes TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr22:37769205G>A ENST00000402918.1 - 3 3155 c.2370C>T c.(2368-2370)caC>caT p.H790H ELFN2_ENST00000349653.3_Silent_p.H790H|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 790 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TGCGCAGGGCGTGACCGGCGG 0.627000 44 82 0 0 1 0 0 HSPA1L 0 broad.mit.edu 37 6 31779208 31779208 + Missense_Mutation SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr6:31779208G>A ENST00000375654.4 - 2 731 c.542C>T c.(541-543)gCt>gTt p.A181V HSPA1L_ENST00000417199.3_Missense_Mutation_p.A181V NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 181 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GGCAATGGCAGCAGCCGTGGG 0.458000 3 72 0 0 1 0 0 IGLV8-61 0 broad.mit.edu 37 22 22453352 22453352 + RNA SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr22:22453352C>T ENST00000390283.2 + 0 144 CAGGAGCCATCGTTCTCAGTG 0.522000 22 46 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122359381 122359381 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr12:122359381C>T ENST00000288912.4 + 2 1024 c.170C>T c.(169-171)aCg>aTg p.T57M WDR66_ENST00000397454.2_Missense_Mutation_p.T57M NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 57 Glu-rich. calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) gagaggaaaacgggcgaggag 0.468000 7 17 0 0 1 0 0 COL6A2 0 broad.mit.edu 37 21 47532397 47532397 + Missense_Mutation SNP C C T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr21:47532397C>T ENST00000300527.4 + 3 724 c.620C>T c.(619-621)aCg>aTg p.T207M COL6A2_ENST00000460886.1_3'UTR|COL6A2_ENST00000310645.5_Missense_Mutation_p.T207M|COL6A2_ENST00000409416.1_Missense_Mutation_p.T207M|COL6A2_ENST00000357838.4_Missense_Mutation_p.T207M|COL6A2_ENST00000397763.1_Missense_Mutation_p.T207M NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 207 Nonhelical region.|VWFA 1. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ATCGCCAGCACGCCGCACGAG 0.662000 13 26 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23646583 23646583 + Silent SNP G G T TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr16:23646583G>T ENST00000261584.4 - 4 1436 c.1284C>A c.(1282-1284)gtC>gtA p.V428V NM_024675.3 NP_078951.2 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 428 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) GACTCTGAATGACAGCCTCCA 0.393000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 3 85 1 1 1 1 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 39 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18500402 18500402 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr11:18500402G>A ENST00000280706.2 + 7 1781 c.984G>A c.(982-984)aaG>aaA p.K328K LDHAL6A_ENST00000396213.3_Silent_p.K328K|TSG101_ENST00000536719.1_Intron NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 328 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) AAATTCAGAAGGAGCTCAAGC 0.348000 3 178 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52360756 52360756 + Silent SNP G G A TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr5:52360756G>A ENST00000296585.5 + 14 1760 c.1617G>A c.(1615-1617)caG>caA p.Q539Q NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 539 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity p.Q539Q(2) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TTTTGGGTCAGCACCAATTTC 0.428000 3 104 0 0 1 0 0 PCP4L1 654790 broad.mit.edu 37 1 161254154 161254156 + In_Frame_Del DEL GGA GGA - TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr1:161254154_161254156delGGA ENST00000504449.1 + 3 338_340 c.90_92delGGA c.(88-93)gcg>gc p.AE30del NM_001102566.1 NP_001096036.1 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 30 p.A30A(1)|p.E35delE(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) TCAAGAAGGCGGAGGAGGAGGAG 0.488 7 275 --- --- --- --- KCNK12 56660 broad.mit.edu 37 2 47797086 47797086 + Frame_Shift_Del DEL T T - TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr2:47797086delT ENST00000327876.3 - 1 992 c.385delA c.(385-387)ccfs p.T129fs KCNK12_ENST00000493527.1_5'UTR NM_022055.1 NP_071338.1 Q9HB15 KCNKC_HUMAN potassium channel, subfamily K, member 12 129 integral to membrane potassium channel activity|voltage-gated ion channel activity p.0?(2)|p.?(1) NS(1)|endometrium(1)|lung(3)|ovary(1) 6 all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCACCTATGGTTGACACCACG 0.721 2 4 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137727661 137727661 + Frame_Shift_Del DEL G G - TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr5:137727661delG ENST00000314358.5 + 8 2540 c.2340delG c.(2338-2340)ccfs p.P780fs KDM3B_ENST00000394866.1_Frame_Shift_Del_p.P436fs|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 780 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TGTCCTCCCCGGCAGATTTTT 0.532 193 270 --- --- --- --- HERC2P2 0 broad.mit.edu 37 15 23333802 23333802 + RNA DEL A A - TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr15:23333802delA ENST00000560464.1 - 0 908 CTTACAGTTCAAAAAAAAAAA 0.443 4 6 --- --- --- --- CCDC155 147872 broad.mit.edu 37 19 49920666 49920668 + In_Frame_Del DEL CTG CTG - TCGA-EL-A3T9-01A-21D-A22D-08 TCGA-EL-A3T9-11A-11D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d692ecd0-2433-426b-9af2-a30c44a80f7c 60ecca33-9f6a-4c77-a862-6f3d723029c9 g.chr19:49920666_49920668delCTG ENST00000447857.3 + 20 1793_1795 c.1588_1590delCTG c.(1588-1590)del p.L536del NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 536 Poly-Leu. integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TGTCCTGGGCctgctgctgctgc 0.650 3 5 --- --- --- ---