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 CECR1 51816 broad.mit.edu 37 22 17669265 17669265 + Missense_Mutation SNP C C T rs74317375 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr22:17669265C>T ENST00000399839.1 - 7 1315 c.1045G>A c.(1045-1047)Gtt>Att p.V349I CECR1_ENST00000399837.2_Missense_Mutation_p.V349I|CECR1_ENST00000262607.3_Missense_Mutation_p.V349I|CECR1_ENST00000330232.4_Missense_Mutation_p.V108I|CECR1_ENST00000449907.2_Missense_Mutation_p.V307I Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 349 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GGCAGCTTAACGCCATCCTTG 0.607000 3 51 0 0 0.009096 0 0 PDXDC1 23042 broad.mit.edu 37 16 15128328 15128328 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr16:15128328G>A ENST00000396410.4 + 21 2017 c.1920G>A c.(1918-1920)caG>caA p.Q640Q PDXDC1_ENST00000569715.1_Silent_p.Q613Q|PDXDC1_ENST00000325823.7_Silent_p.Q625Q|PDXDC1_ENST00000450288.2_Silent_p.Q612Q|PDXDC1_ENST00000563679.1_Silent_p.Q658Q|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000447912.2_Silent_p.Q549Q NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 640 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGTTGCGGCAGATCCCTGTAG 0.602000 30 105 0 0 0.059317 0 0 KRT79 338785 broad.mit.edu 37 12 53217762 53217762 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:53217762C>T ENST00000330553.5 - 6 1089 c.1055G>A c.(1054-1056)gGg>gAg p.G352E NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 352 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAGGTTGTCCCCATGCTTCCC 0.612000 10 33 0 0 0.058154 0 0 TENM2 57451 broad.mit.edu 37 5 167673804 167673804 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:167673804G>A ENST00000519204.1 + 26 5615 c.5497G>A c.(5497-5499)Gag>Aag p.E1833K TENM2_ENST00000403607.2_Missense_Mutation_p.E1778K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1715K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1954K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1953K teneurin transmembrane protein 2 p.E1833Q(1)|p.E1787Q(1)|p.E1954Q(1) GTATATATTTGAGTATGACTC 0.512000 68 223 0 0 0.048971 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834874 27834874 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr6:27834874G>T ENST00000331442.3 - 1 485 c.434C>A c.(433-435)gCt>gAt p.A145D NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 145 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CGCCCCTGCAGCCTTCTTGGC 0.617000 41 192 9.84934e-19 1.14379e-18 0.039052 1 0 UBE4B 10277 broad.mit.edu 37 1 10239993 10239993 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:10239993G>A ENST00000377157.3 + 27 4226 c.3165G>A c.(3163-3165)gaG>gaA p.E1055E UBE4B_ENST00000253251.8_Silent_p.E1167E|UBE4B_ENST00000343090.6_Silent_p.E1296E NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1296 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GGATGAGAGAGAAACAGAACA 0.552000 8 40 0 0 0.047766 0 0 CASP8 841 broad.mit.edu 37 2 202131394 202131394 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:202131394T>C ENST00000358485.4 + 2 558 c.362T>C c.(361-363)cTg>cCg p.L121P CASP8_ENST00000264274.9_Missense_Mutation_p.L62P|CASP8_ENST00000323492.7_Missense_Mutation_p.L62P|CASP8_ENST00000264275.5_Missense_Mutation_p.L62P|CASP8_ENST00000392258.3_Missense_Mutation_p.L62P|CASP8_ENST00000432109.2_Missense_Mutation_p.L62P|CASP8_ENST00000392259.2_Missense_Mutation_p.L62P|CASP8_ENST00000392266.3_Missense_Mutation_p.L62P NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 62 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.L62P(1)|p.L121P(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTGTCCTTCCTGAAGGAGCTG 0.453000 HNSCC(4;0.00038) 6 23 0 0 0.029380 0 0 SIRT3 23410 broad.mit.edu 37 11 219014 219014 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr11:219014C>T ENST00000382743.4 - 6 1099 c.997G>A c.(997-999)Gcc>Acc p.A333T SIRT3_ENST00000525319.1_Missense_Mutation_p.A252T|SIRT3_ENST00000524564.1_Missense_Mutation_p.A269T|SIRT3_ENST00000529382.1_Missense_Mutation_p.A191T|SIRT3_ENST00000532956.1_Missense_Mutation_p.A279T NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 333 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) CTCCGCACGGCCTCGGTCAAG 0.612000 8 13 0 0 0.047766 0 0 OR6C4 341418 broad.mit.edu 37 12 55945682 55945682 + Silent SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:55945682G>T ENST00000394256.2 + 1 700 c.672G>T c.(670-672)ctG>ctT p.L224L RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 GGACTATTCTGAGGATCCCTT 0.468000 13 64 4.36969e-10 4.9159e-10 0.105934 1 0 AFF4 27125 broad.mit.edu 37 5 132269973 132269973 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:132269973C>T ENST00000265343.5 - 3 1163 c.784G>A c.(784-786)Gga>Aga p.G262R AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.G262R NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 262 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACTCCTGTCCGTCCATGGGC 0.512000 15 61 0 0 0.028581 0 0 AGBL1 123624 broad.mit.edu 37 15 87531246 87531246 + Missense_Mutation SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr15:87531246C>G ENST00000441037.2 + 23 3207 c.3112C>G c.(3112-3114)Cat>Gat p.H1038D AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038D|AGBL1_ENST00000389298.3_Missense_Mutation_p.H769D|RP11-133L19.1_ENST00000558587.1_RNA NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1038 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 cctgccaaagcatatttggtt 0.348000 43 104 0 0 0.045515 0 0 LRP1B 53353 broad.mit.edu 37 2 141806672 141806672 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:141806672G>T ENST00000389484.3 - 11 2643 c.1672C>A c.(1672-1674)Cct>Act p.P558T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 558 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGCACGAGGGTTTACCAGA 0.438000 TSP Lung(27;0.18) 31 116 1.61788e-16 1.83927e-16 0.050027 1 0 PTPDC1 138639 broad.mit.edu 37 9 96859910 96859910 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:96859910G>A ENST00000375360.3 + 7 1240 c.900G>A c.(898-900)gcG>gcA p.A300A PTPDC1_ENST00000288976.3_Silent_p.A352A NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 300 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TGGACTTAGCGGAGAACAGGC 0.468000 3 55 0 0 0.009096 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:142713944C>T ENST00000369381.2 - 0 661 TGATTACCTCCGAAGTTAAAG 0.308000 7 19 0 0 0.038147 0 0 OAS2 4939 broad.mit.edu 37 12 113444282 113444282 + Silent SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:113444282A>G ENST00000392583.2 + 8 1740 c.1533A>G c.(1531-1533)aaA>aaG p.K511K OAS2_ENST00000342315.4_Silent_p.K511K|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 511 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ATCTGTATAAATCCTCGGACC 0.512000 26 69 0 0 0.099896 0 0 RAI1 10743 broad.mit.edu 37 17 17696924 17696924 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:17696924C>T ENST00000353383.1 + 3 1131 c.662C>T c.(661-663)aCc>aTc p.T221I RAI1_ENST00000261641.6_Missense_Mutation_p.T221I NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 221 Gln-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) ACCTCCTCCACCTACTCCTCC 0.627000 36 68 0 0 0.064281 0 0 LAMA3 3909 broad.mit.edu 37 18 21444832 21444832 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr18:21444832G>A ENST00000313654.9 + 36 4909 c.4668G>A c.(4666-4668)ccG>ccA p.P1556P LAMA3_ENST00000399516.3_Silent_p.P1556P NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1556 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAAGAAGCCGGATGTACAGC 0.448000 3 51 0 0 0.004672 0 0 RASA1 5921 broad.mit.edu 37 5 86681171 86681171 + Nonsense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:86681171C>T ENST00000456692.2 + 22 2396 c.2281C>T c.(2281-2283)Cag>Tag p.Q761* RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q938*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q772*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q771* NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 938 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TAAATCTGTGCAGAACTTAGC 0.353000 4 24 0 0 0.014758 0 0 GPBP1 65056 broad.mit.edu 37 5 56546884 56546884 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:56546884C>T ENST00000424459.3 + 11 2410 c.1136C>T c.(1135-1137)gCc>gTc p.A379V GPBP1_ENST00000506184.2_Missense_Mutation_p.A359V|GPBP1_ENST00000454432.2_Missense_Mutation_p.A379V|GPBP1_ENST00000538707.1_Missense_Mutation_p.A366V|GPBP1_ENST00000264779.6_Missense_Mutation_p.A366V|GPBP1_ENST00000514387.2_Missense_Mutation_p.A188V|GPBP1_ENST00000511209.1_Missense_Mutation_p.A351V NM_022913.3 NP_075064.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AATGGCAATGCCTCAGTGATT 0.393000 19 37 0 0 0.043863 0 0 VWA3B 200403 broad.mit.edu 37 2 98914449 98914449 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:98914449C>T ENST00000477737.1 + 24 3441 c.3237C>T c.(3235-3237)tcC>tcT p.S1079S VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1079 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTCCACCTCCTTCATCACGC 0.577000 9 59 0 0 0.047766 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 40 0 0 0.004672 0 0 NFATC2 4773 broad.mit.edu 37 20 50140118 50140118 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr20:50140118G>A ENST00000371564.3 - 2 881 c.662C>T c.(661-663)tCa>tTa p.S221L NFATC2_ENST00000414705.1_Missense_Mutation_p.S201L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S221L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 221 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGTTCGAGGTGACATTATTGG 0.652000 20 71 0 0 0.055883 0 0 NT5C1B 93034 broad.mit.edu 37 2 18757571 18757571 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:18757571C>T ENST00000304081.4 - 8 1308 c.1208G>A c.(1207-1209)cGt>cAt p.R403H NT5C1B_ENST00000359846.2_Missense_Mutation_p.R463H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R463H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R463H NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AAAGGCTACACGGAGCTGAGT 0.443000 11 31 0 0 0.080935 0 0 PAF1 54623 broad.mit.edu 37 19 39879970 39879970 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:39879970G>A ENST00000221265.3 - 6 743 c.413C>T c.(412-414)tCc>tTc p.S138F PAF1_ENST00000221266.7_Missense_Mutation_p.S128F|PAF1_ENST00000595564.1_Missense_Mutation_p.S128F NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 138 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GAACTCAGTGGAGATGTACTC 0.517000 11 53 0 0 0.080935 0 0 HIST1H4F 8361 broad.mit.edu 37 6 26240713 26240713 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr6:26240713C>T ENST00000377745.2 + 1 153 c.60C>T c.(58-60)cgC>cgT p.R20R NM_003540.3 NP_003531.1 P62805 H4_HUMAN histone cluster 1, H4f 20 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) AGCGCCATCGCAAAGTGCTGC 0.537000 5 18 0 0 0.014758 0 0 LFNG 3955 broad.mit.edu 37 7 2552941 2552941 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr7:2552941C>T ENST00000402506.1 + 2 324 c.198C>T c.(196-198)taC>taT p.Y66Y NM_001166355.1 NP_001159827.1 Q8NES3 LFNG_HUMAN LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 0 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) TCAGGTCCTACGGAGGTGGCC 0.532000 8 27 0 0 0.047766 0 0 GPR98 84059 broad.mit.edu 37 5 89970029 89970029 + Silent SNP C C A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:89970029C>A ENST00000405460.2 + 23 5184 c.5088C>A c.(5086-5088)atC>atA p.I1696I GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1696 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATATCACCATCAAAGCTAGTG 0.423000 6 12 0.0293803 0.0308066 0.029380 1 0 GALNT2 2590 broad.mit.edu 37 1 230381875 230381875 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:230381875G>A ENST00000366672.4 + 8 868 c.796G>A c.(796-798)Gca>Aca p.A266T GALNT2_ENST00000541865.1_Missense_Mutation_p.A176T|GALNT2_ENST00000543760.1_Missense_Mutation_p.A228T NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 266 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A266P(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GTATGTGGGGGCATCTGCTGA 0.493000 9 45 0 0 0.047766 0 0 KPNA6 23633 broad.mit.edu 37 1 32628883 32628883 + Missense_Mutation SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:32628883A>G ENST00000373625.3 + 10 1052 c.959A>G c.(958-960)aAc>aGc p.N320S KPNA6_ENST00000537234.1_Missense_Mutation_p.N317S|KPNA6_ENST00000545542.1_Missense_Mutation_p.N325S NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 320 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCCGTGGGTAACATCGTCACT 0.542000 6 18 0 0 0.029380 0 0 DOCK8 81704 broad.mit.edu 37 9 382632 382632 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:382632G>A ENST00000432829.2 + 22 2837 c.2521G>A c.(2521-2523)Gcg>Acg p.A841T DOCK8_ENST00000453981.1_Missense_Mutation_p.A909T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841T|DOCK8_ENST00000382331.1_Missense_Mutation_p.A211T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376T NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 909 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCCAGACCTCGCGGGGACACA 0.542000 7 30 0 0 0.029380 0 0 TAOK2 9344 broad.mit.edu 37 16 29994159 29994159 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr16:29994159G>A ENST00000308893.4 + 11 1979 c.936G>A c.(934-936)atG>atA p.M312I TAOK2_ENST00000543033.1_Missense_Mutation_p.M312I|TAOK2_ENST00000416441.2_Missense_Mutation_p.M139I|TAOK2_ENST00000279394.3_Missense_Mutation_p.M312I NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 312 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ACCGCAAGATGAAGAAGATCC 0.607000 20 61 0 0 0.069288 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023742 18023742 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:18023742G>T ENST00000361221.3 + 29 3866 c.3707G>T c.(3706-3708)tGc>tTc p.C1236F ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.C1009F|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.C939F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.C1197F NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1236 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) AAGGAGATTTGCTCTGTGGCC 0.687000 13 31 7.03913e-09 7.83738e-09 0.093190 1 0 NHS 4810 broad.mit.edu 37 X 17744146 17744146 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:17744146G>A ENST00000380060.3 + 6 2195 c.1857G>A c.(1855-1857)acG>acA p.T619T NHS_ENST00000398097.3_Silent_p.T463T NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 619 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GCAGCTCCACGTGCCCCTCGC 0.582000 26 100 0 0 0.099896 0 0 ERC2 26059 broad.mit.edu 37 3 56044571 56044571 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr3:56044571C>T ENST00000288221.6 - 9 2081 c.1826G>A c.(1825-1827)cGg>cAg p.R609Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 609 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TAGTCTTTCCCGATCATCTCT 0.413000 13 49 0 0 0.093190 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141591 133141591 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:133141591G>A ENST00000388996.4 - 15 2957 c.2537C>T c.(2536-2538)aCg>aTg p.T846M KCNQ3_ENST00000521134.1_Missense_Mutation_p.T726M|KCNQ3_ENST00000519445.1_Missense_Mutation_p.T834M NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 846 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCCGCTGGGCGTGAAGGGGTC 0.572000 8 34 0 0 0.038147 0 0 MAP3K14 9020 broad.mit.edu 37 17 43343801 43343801 + RNA SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:43343801C>T ENST00000344686.2 - 0 2684 MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTCCTCCCTCCCACTGTGCCA 0.577000 11 28 0 0 0.069234 0 0 PSMB7 5695 broad.mit.edu 37 9 127177670 127177670 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:127177670C>T ENST00000536392.1 - 1 51 c.35G>A c.(34-36)gGa>gAa p.G12E PSMB7_ENST00000259457.3_Missense_Mutation_p.G12E Q99436 PSB7_HUMAN proteasome (prosome, macropain) subunit, beta type, 7 12 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 AGAGAAGCCTCCAACTGGTGG 0.607000 OREG0019476 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 0.058154 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100657103 100657103 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr15:100657103C>T ENST00000268070.4 - 13 1942 c.1837G>A c.(1837-1839)Gac>Aac p.D613N NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 613 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CTCAGCCGGTCGTGTGCCTGG 0.627000 22 38 0 0 0.069288 0 0 SAMD15 161394 broad.mit.edu 37 14 77844099 77844099 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr14:77844099G>A ENST00000216471.4 + 1 624 c.338G>A c.(337-339)aGa>aAa p.R113K SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 113 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAAACATCCAGAGAGATGGGA 0.493000 19 125 0 0 0.049695 0 0 LRBA 987 broad.mit.edu 37 4 151842388 151842388 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr4:151842388G>A ENST00000535741.1 - 5 1080 c.607C>T c.(607-609)Cct>Tct p.P203S LRBA_ENST00000357115.3_Missense_Mutation_p.P203S|LRBA_ENST00000507224.1_Missense_Mutation_p.P203S|LRBA_ENST00000510413.1_Missense_Mutation_p.P203S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 203 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AAGGCATCAGGACCATACTTC 0.383000 25 52 0 0 0.030593 0 0 HPS6 79803 broad.mit.edu 37 10 103826339 103826339 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:103826339G>A ENST00000299238.5 + 1 1193 c.1108G>A c.(1108-1110)Gag>Aag p.E370K NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 370 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGAAGAGCTGGAGACCCGAGG 0.582000 Hermansky-Pudlak syndrome 12 47 0 0 0.093190 0 0 DSEL 92126 broad.mit.edu 37 18 65179933 65179933 + Missense_Mutation SNP T T A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr18:65179933T>A ENST00000310045.7 - 2 3416 c.1943A>T c.(1942-1944)gAt>gTt p.D648V CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 638 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) GCCATGATGATCAAACCAAAA 0.348000 12 44 0 0 0.093190 0 0 ACSBG1 23205 broad.mit.edu 37 15 78526821 78526821 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr15:78526821C>T ENST00000258873.4 - 1 228 c.23G>A c.(22-24)gGa>gAa p.G8E ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 8 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GCAGCCGTATCCAGCTCCAGA 0.597000 38 195 0 0 0.074837 0 0 HR 55806 broad.mit.edu 37 8 21976769 21976769 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:21976769C>T ENST00000381418.4 - 15 4485 c.3005G>A c.(3004-3006)gGg>gAg p.G1002E HR_ENST00000312841.8_Missense_Mutation_p.G1002E NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 1002 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTTCTTGGTCCCCAGGTGTCC 0.597000 6 34 0 0 0.021553 0 0 TP53 7157 broad.mit.edu 37 17 7579374 7579374 + Missense_Mutation SNP C C A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:7579374C>A ENST00000420246.2 - 4 445 c.313G>T c.(313-315)Ggc>Tgc p.G105C TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000269305.4_Missense_Mutation_p.G105C|TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 105 Interaction with HIPK1 (By similarity).|Interaction with WWOX. G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGTAGCTGCCCTGGTAGGTT 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 38 3.99451e-17 4.58943e-17 0.041601 1 0 THAP11 57215 broad.mit.edu 37 16 67876720 67876720 + Missense_Mutation SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr16:67876720G>C ENST00000303596.1 + 1 508 c.263G>C c.(262-264)cGc>cCc p.R88P CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) GTCAATGAGCGCAAAGTAGCG 0.682000 7 17 0 0 0.038147 0 0 TCTE1 202500 broad.mit.edu 37 6 44254022 44254022 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr6:44254022C>T ENST00000371505.4 - 3 647 c.525G>A c.(523-525)gcG>gcA p.A175A TCTE1_ENST00000371504.1_Silent_p.A22A|TCTE1_ENST00000371503.3_Silent_p.A22A|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 175 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CGAGGATCACCGCAGGGTCTG 0.652000 20 41 0 0 0.043863 0 0 ZNF189 7743 broad.mit.edu 37 9 104170879 104170879 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:104170879G>A ENST00000374861.3 + 3 1071 c.787G>A c.(787-789)Gag>Aag p.E263K ZNF189_ENST00000339664.2_Missense_Mutation_p.E277K|ZNF189_ENST00000259395.4_Missense_Mutation_p.E235K NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 277 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) ACACCTTATTGAGCATCAAAG 0.393000 55 106 0 0 0.048971 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:21971028C>T ENST00000304494.5 - 2 600 c.330G>A c.(328-330)tgG>tgA p.W110* CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 17 0 0 0.093190 0 0 AFF2 2334 broad.mit.edu 37 X 148055022 148055022 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:148055022G>A ENST00000370460.2 + 16 3768 c.3289G>A c.(3289-3291)Gtg>Atg p.V1097M AFF2_ENST00000342251.3_Missense_Mutation_p.V1064M|AFF2_ENST00000370457.5_Missense_Mutation_p.V1062M|AFF2_ENST00000286437.5_Missense_Mutation_p.V738M NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1097 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TGGCAAAGCTGTGAATTATGC 0.463000 25 85 0 0 0.099896 0 0 SORCS3 22986 broad.mit.edu 37 10 106899230 106899230 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:106899230T>C ENST00000369701.3 + 8 1515 c.1288T>C c.(1288-1290)Tac>Cac p.Y430H NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 430 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCTGCCTAAGTACTCGTTGCC 0.512000 14 53 0 0 0.028581 0 0 CYB5R1 51706 broad.mit.edu 37 1 202935050 202935050 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:202935050C>T ENST00000367249.4 - 4 384 c.310G>A c.(310-312)Gat>Aat p.D104N NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 104 FAD-binding FR-type. sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) TGATCCTCATCACTGGTGACA 0.507000 6 26 0 0 0.021553 0 0 TNKS 8658 broad.mit.edu 37 8 9605599 9605599 + Silent SNP G G A rs35491087 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:9605599G>A ENST00000310430.6 + 18 2735 c.2709G>A c.(2707-2709)gcG>gcA p.A903A TNKS_ENST00000518281.1_Silent_p.A666A NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 903 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ATAAGTGGGCGTTTACTCCCC 0.473000 8 31 0 0 0.038147 0 0 TOR4A 54863 broad.mit.edu 37 9 140174120 140174120 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:140174120C>T ENST00000357503.2 + 2 1175 c.979C>T c.(979-981)Cgc>Tgc p.R327C NM_017723.2 NP_060193.2 Q9NXH8 CI167_HUMAN torsin family 4, member A 327 chaperone mediated protein folding requiring cofactor integral to membrane ATP binding|nucleoside-triphosphatase activity CGACGGCTTCCGCAGTGCCGA 0.741000 7 2 0 0 0.029380 0 0 HBG2 3048 broad.mit.edu 37 11 5274626 5274626 + Missense_Mutation SNP T T A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr11:5274626T>A ENST00000380259.2 - 8 1565 c.325A>T c.(325-327)Aat>Tat p.N109Y HBG2_ENST00000380252.1_Missense_Mutation_p.N99Y|HBG2_ENST00000336906.4_Missense_Mutation_p.N109Y hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAGCACATTTCCCAGGAGC 0.522000 7 27 0 0 0.069234 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077219 34077219 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:34077219G>A ENST00000254466.6 - 2 531 c.504C>T c.(502-504)ctC>ctT p.L168L GAS2L2_ENST00000587565.1_Silent_p.L168L NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 168 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCAGCTGCACGAGTGTGGGCG 0.721000 31 132 0 0 0.050027 0 0 NLRP7 199713 broad.mit.edu 37 19 55450492 55450492 + Silent SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:55450492C>G ENST00000446217.1 - 6 2181 c.1779G>C c.(1777-1779)gtG>gtC p.V593V NLRP7_ENST00000592784.1_Silent_p.V565V|NLRP7_ENST00000328092.5_Silent_p.V565V|NLRP7_ENST00000448121.2_Silent_p.V565V|NLRP7_ENST00000590030.1_Silent_p.V565V|NLRP7_ENST00000588756.1_Silent_p.V565V|NLRP7_ENST00000340844.2_Silent_p.V565V Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 565 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCAGGTCGGTCACGGATAAGG 0.527000 21 39 0 0 0.049695 0 0 ACSM4 341392 broad.mit.edu 37 12 7469847 7469847 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:7469847C>T ENST00000399422.4 + 4 783 c.735C>T c.(733-735)agC>agT p.S245S NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 245 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CTCAGAGCAGCCTCGGCATTG 0.488000 4 4 0 0 0.009096 0 0 GRM8 2918 broad.mit.edu 37 7 126746580 126746580 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr7:126746580C>T ENST00000339582.2 - 3 1505 c.697G>A c.(697-699)Gag>Aag p.E233K GRM8_ENST00000358373.3_Missense_Mutation_p.E233K|GRM8_ENST00000444921.2_Missense_Mutation_p.E233K|GRM8_ENST00000405249.1_Missense_Mutation_p.E233K|GRM8_ENST00000480995.1_5'UTR O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 233 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTGAAGGCCTCCACACCGCTC 0.498000 HNSCC(24;0.065) 7 20 0 0 0.029380 0 0 FAT1 2195 broad.mit.edu 37 4 187549812 187549812 + Nonsense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr4:187549812G>A ENST00000441802.2 - 8 4638 c.4429C>T c.(4429-4431)Caa>Taa p.Q1477* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1477 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCACTGATTTGCAAAATTTCT 0.393000 HNSCC(5;0.00058) 9 27 0 0 0.069234 0 0 CELF2 10659 broad.mit.edu 37 10 11370983 11370983 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:11370983G>A ENST00000379261.4 + 13 1586 c.1494G>A c.(1492-1494)ctG>ctA p.L498L CELF2_ENST00000416382.2_Silent_p.L498L|CELF2_ENST00000399850.3_Silent_p.L480L|CELF2_ENST00000417956.2_Silent_p.L478L|CELF2_ENST00000450189.1_Silent_p.L511L|CELF2_ENST00000542579.1_Silent_p.L511L|CELF2_ENST00000354440.2_Silent_p.L480L|CELF2_ENST00000427450.1_Silent_p.L480L|CELF2_ENST00000537122.1_Silent_p.L393L|CELF2_ENST00000354897.3_Silent_p.L492L|CELF2_ENST00000315874.3_Silent_p.L480L NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 498 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 AGGTGCAGCTGAAGCGTTCCA 0.488000 12 59 0 0 0.105934 0 0 ADAM28 10863 broad.mit.edu 37 8 24209561 24209561 + Missense_Mutation SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:24209561C>G ENST00000265769.4 + 21 2350 c.2240C>G c.(2239-2241)tCt>tGt p.S747C RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 747 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCCCCAGCCTCTTTTGTGAGT 0.408000 9 58 0 0 0.058154 0 0 KANK2 25959 broad.mit.edu 37 19 11280802 11280802 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:11280802G>A ENST00000432929.2 - 11 2718 c.2358C>T c.(2356-2358)tgC>tgT p.C786C KANK2_ENST00000589359.1_Silent_p.C786C|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000586659.1_Silent_p.C778C|KANK2_ENST00000589894.1_Silent_p.C778C|KANK2_ENST00000355150.5_Silent_p.C778C NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 778 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCTCACAGGCGCACATGAGGG 0.637000 15 44 0 0 0.024245 0 0 MAEL 84944 broad.mit.edu 37 1 166985521 166985521 + Splice_Site SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:166985521C>T ENST00000367872.4 + 9 1152 c.908_splice c.e9+1 p.A303_splice MAEL_ENST00000367870.2_Splice_Site_p.A272_splice|MAEL_ENST00000491055.1_3'UTR NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 303 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding p.A303V(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 AAGAAGATTGCGTAAGTTGGG 0.368000 11 52 0 0 0.080935 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31965096 31965096 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr21:31965096G>A ENST00000391624.1 + 1 338 c.311G>A c.(310-312)tGa>tAa p.*104* NM_181605.3 NP_853636.3 keratin associated protein 6-3 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 TACTACTATTGAGGACACCAT 0.512000 3 11 0 0 0.004672 0 0 TRIO 7204 broad.mit.edu 37 5 14488246 14488246 + Silent SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:14488246G>C ENST00000344204.4 + 48 7533 c.7509G>C c.(7507-7509)ccG>ccC p.P2503P TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2503 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCACCTTCCCGGGGGACAGCG 0.721000 4 15 0 0 0.014758 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4665701 4665701 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:4665701T>C ENST00000543041.1 + 7 858 c.550T>C c.(550-552)Tgg>Cgg p.W184R RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000228843.9_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000321524.7_Intron|RAD51AP1_ENST00000352618.4_Intron Q96B01 R51A1_HUMAN RAD51 associated protein 1 307 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) GACAGGAGCTTGGAAAATTAT 0.378000 5 25 0 0 0.014758 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561896 11561896 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:11561896G>A ENST00000294484.6 + 2 985 c.847G>A c.(847-849)Ggc>Agc p.G283S PTCHD2_ENST00000389575.3_Missense_Mutation_p.G283S NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 283 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCTGGCGCGCGGCGACGCGGA 0.647000 5 20 0 0 0.029380 0 0 CLEC9A 283420 broad.mit.edu 37 12 10213747 10213747 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:10213747C>T ENST00000355819.1 + 6 807 c.194C>T c.(193-195)gCg>gTg p.A65V NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 65 positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 TCCACCATTGCGATGCAGCAG 0.403000 5 16 0 0 0.014758 0 0 RASAL2 9462 broad.mit.edu 37 1 178411963 178411963 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:178411963G>A ENST00000448150.3 + 8 1845 c.1027G>A c.(1027-1029)Ggc>Agc p.G343S RASAL2_ENST00000367649.3_Missense_Mutation_p.G361S|RASAL2_ENST00000462775.1_Missense_Mutation_p.G213S NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 213 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TATTTTCTGGGGCGAACATTT 0.388000 16 84 0 0 0.043863 0 0 OR4C15 81309 broad.mit.edu 37 11 55322484 55322484 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr11:55322484G>T ENST00000314644.2 + 1 702 c.702G>T c.(700-702)ttG>ttT p.L234F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGTGTGACTTGTACCCGTTAC 0.458000 HNSCC(20;0.049) 7 27 0.0293803 0.0308066 0.029380 1 0 RNF128 79589 broad.mit.edu 37 X 105937342 105937342 + Missense_Mutation SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:105937342A>G ENST00000324342.3 + 1 275 c.110A>G c.(109-111)tAc>tGc p.Y37C NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 52 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 GTGACTTATTACAATGAAACC 0.388000 24 90 0 0 0.076483 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475797 140475797 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:140475797G>A ENST00000194155.4 + 1 1571 c.1423G>A c.(1423-1425)Gtc>Atc p.V475I NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 475 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATCGGCAGCGTCAGCGCCAC 0.667000 34 117 0 0 0.045515 0 0 CARM1 10498 broad.mit.edu 37 19 11018790 11018790 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr19:11018790C>T ENST00000327064.4 + 3 612 c.422C>T c.(421-423)aCg>aTg p.T141M CARM1_ENST00000344150.4_Missense_Mutation_p.T141M NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 141 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 AGCGAGCGGACGGAGGAGTCT 0.637000 15 77 0 0 0.028581 0 0 SEC61A2 55176 broad.mit.edu 37 10 12191922 12191922 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr10:12191922G>A ENST00000379033.3 + 5 505 c.358G>A c.(358-360)Gaa>Aaa p.E120K SEC61A2_ENST00000298428.9_Missense_Mutation_p.E142K|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.E142K|SEC61A2_ENST00000379051.1_Missense_Mutation_p.E142K|SEC61A2_ENST00000304267.8_Missense_Mutation_p.E142K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.E142K NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 142 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) GGACCCTGCAGAAATGGGTGC 0.428000 15 60 0 0 0.033300 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43472974 43472974 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr17:43472974G>A ENST00000532038.1 - 16 1987 c.1852C>T c.(1852-1854)Cgc>Tgc p.R618C ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R818C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R499C|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R472C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R499C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R813C|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R840C Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 840 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) ACCGACATGCGGTTCTGCTCG 0.667000 3 9 0 0 0.009096 0 0 FAT4 79633 broad.mit.edu 37 4 126371855 126371855 + Silent SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr4:126371855G>C ENST00000394329.3 + 9 9697 c.9684G>C c.(9682-9684)gtG>gtC p.V3228V FAT4_ENST00000335110.5_Silent_p.V1526V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3228 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAATGCTGTGATTGCGTATA 0.428000 9 50 0 0 0.058154 0 0 TIPARP 25976 broad.mit.edu 37 3 156396202 156396202 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr3:156396202G>A ENST00000461166.1 + 2 1304 c.716G>A c.(715-717)gGa>gAa p.G239E TIPARP_ENST00000486483.1_Missense_Mutation_p.G239E|TIPARP_ENST00000295924.7_Missense_Mutation_p.G239E|TIPARP_ENST00000542783.1_Missense_Mutation_p.G239E NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 239 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CAAGAGAACGGAATTGAAATT 0.458000 22 127 0 0 0.069288 0 0 FIGN 55137 broad.mit.edu 37 2 164467771 164467771 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr2:164467771C>T ENST00000333129.3 - 3 885 c.571G>A c.(571-573)Gga>Aga p.G191R FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 191 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AAATATGATCCGTTGTATCCT 0.507000 6 39 0 0 0.021553 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595724 140595724 + Missense_Mutation SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:140595724G>C ENST00000341948.4 + 1 2216 c.2029G>C c.(2029-2031)Gcc>Ccc p.A677P NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 677 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCGGAGGCGGCCCCGACCCA 0.682000 36 114 0 0 0.074837 0 0 RBM12B 389677 broad.mit.edu 37 8 94746535 94746535 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:94746535G>A ENST00000399300.2 - 3 2317 c.2104C>T c.(2104-2106)Ccc>Tcc p.P702S RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 702 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCCTCTGGGGGCCGCCTGAAG 0.642000 34 124 0 0 0.050027 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14782606 14782606 + Missense_Mutation SNP A A C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr18:14782606A>C ENST00000358984.4 + 12 1743 c.1563A>C c.(1561-1563)gaA>gaC p.E521D ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E521D|ANKRD30B_ENST00000579292.1_Intron NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 521 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TAAATAGAGAAGTAGAAGGTA 0.313000 6 13 0 0 0.021553 0 0 RIMBP2 23504 broad.mit.edu 37 12 130892282 130892282 + Missense_Mutation SNP C C T rs142858015 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:130892282C>T ENST00000261655.4 - 16 3077 c.2914G>A c.(2914-2916)Gtc>Atc p.V972I NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 972 SH3 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGACATCGACGTTGGGCGAG 0.567000 52 186 0 0 0.048971 0 0 CCDC107 203260 broad.mit.edu 37 9 35658653 35658653 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr9:35658653G>A ENST00000421582.2 + 2 250 c.187G>A c.(187-189)Gcc>Acc p.A63T CCDC107_ENST00000327351.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378409.3_Missense_Mutation_p.A63T|CCDC107_ENST00000426546.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378406.1_Missense_Mutation_p.A63T|CCDC107_ENST00000378407.3_Missense_Mutation_p.A63T Q8WV48 CC107_HUMAN coiled-coil domain containing 107 63 integral to membrane endometrium(1)|lung(3)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCGGACCCGGGCCGGGTCGCT 0.716000 8 13 0 0 0.038147 0 0 LRP1 4035 broad.mit.edu 37 12 57579467 57579467 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:57579467G>T ENST00000243077.3 + 41 7083 c.6617G>T c.(6616-6618)cGc>cTc p.R2206L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2206 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) TACTCAGAGCGCACCATTCTC 0.642000 6 22 0.0215528 0.0230465 0.021553 1 0 OPLAH 26873 broad.mit.edu 37 8 145107418 145107418 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr8:145107418G>A ENST00000426825.1 - 23 3318 c.3237C>T c.(3235-3237)aaC>aaT p.N1079N OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1079 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) ACGTGAGCACGTTGCCGCCCA 0.771000 3 7 0 0 0.004672 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593386 1593386 + RNA SNP A A C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr5:1593386A>C ENST00000436493.2 - 0 239 CTGGCCATTCACGTGCCTCAG 0.597000 3 39 0 0 0.004672 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 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.Q269Q(15) 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 gctgctgctgctgttgttgtt 0.537000 4 46 0 0 0.009096 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524270 73524270 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:73524270G>T ENST00000339534.2 + 1 246 c.169G>T c.(169-171)Gct>Tct p.A57S NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 57 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 CGGTCGTAATGCTAAGAACTG 0.527000 6 27 0.00116845 0.00126192 0.021553 1 0 DUSP27 92235 broad.mit.edu 37 1 167095880 167095880 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr1:167095880G>A ENST00000361200.2 + 6 1678 c.1512G>A c.(1510-1512)gcG>gcA p.A504A DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.A504A|DUSP27_ENST00000443333.1_Silent_p.A504A Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 504 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAGAGGAGGCGGCAGACAGGA 0.602000 11 29 0 0 0.080935 0 0 CECR1 51816 broad.mit.edu 37 22 17669265 17669265 + Missense_Mutation SNP C C T rs74317375 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr22:17669265C>T ENST00000399839.1 - 7 1315 c.1045G>A c.(1045-1047)Gtt>Att p.V349I CECR1_ENST00000449907.2_Missense_Mutation_p.V307I|CECR1_ENST00000262607.3_Missense_Mutation_p.V349I|CECR1_ENST00000330232.4_Missense_Mutation_p.V108I|CECR1_ENST00000399837.2_Missense_Mutation_p.V349I Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 349 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) GGCAGCTTAACGCCATCCTTG 0.607000 3 51 0 0 0.009096 0 0 PDXDC1 23042 broad.mit.edu 37 16 15128328 15128328 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr16:15128328G>A ENST00000396410.4 + 21 2017 c.1920G>A c.(1918-1920)caG>caA p.Q640Q PDXDC1_ENST00000563679.1_Silent_p.Q658Q|PDXDC1_ENST00000450288.2_Silent_p.Q612Q|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000569715.1_Silent_p.Q613Q|PDXDC1_ENST00000447912.2_Silent_p.Q549Q|PDXDC1_ENST00000325823.7_Silent_p.Q625Q NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 640 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) TGTTGCGGCAGATCCCTGTAG 0.602000 30 105 0 0 0.059317 0 0 KRT79 338785 broad.mit.edu 37 12 53217762 53217762 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:53217762C>T ENST00000330553.5 - 6 1089 c.1055G>A c.(1054-1056)gGg>gAg p.G352E NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 352 Coil 2.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CAGGTTGTCCCCATGCTTCCC 0.612000 10 33 0 0 0.058154 0 0 TENM2 57451 broad.mit.edu 37 5 167673804 167673804 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:167673804G>A ENST00000519204.1 + 26 5615 c.5497G>A c.(5497-5499)Gag>Aag p.E1833K TENM2_ENST00000403607.2_Missense_Mutation_p.E1778K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1954K|TENM2_ENST00000520394.1_Missense_Mutation_p.E1715K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1953K teneurin transmembrane protein 2 p.E1833Q(1)|p.E1787Q(1)|p.E1954Q(1) GTATATATTTGAGTATGACTC 0.512000 68 223 0 0 0.139131 0 0 CROCCP2 84809 broad.mit.edu 37 1 16953672 16953672 + RNA SNP C C T rs3738597 by1000genomes TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:16953672C>T ENST00000412962.1 - 0 589 TCGGTCTTCTCGGCCTGCAGC 0.652000 8 55 0 0 0.038147 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834874 27834874 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr6:27834874G>T ENST00000331442.3 - 1 485 c.434C>A c.(433-435)gCt>gAt p.A145D NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 145 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CGCCCCTGCAGCCTTCTTGGC 0.617000 41 192 9.84934e-19 1.13121e-18 0.117977 1 0 UBE4B 10277 broad.mit.edu 37 1 10239993 10239993 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:10239993G>A ENST00000377157.3 + 27 4226 c.3165G>A c.(3163-3165)gaG>gaA p.E1055E UBE4B_ENST00000253251.8_Silent_p.E1167E|UBE4B_ENST00000343090.6_Silent_p.E1296E NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1296 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) GGATGAGAGAGAAACAGAACA 0.552000 8 40 0 0 0.047766 0 0 CASP8 841 broad.mit.edu 37 2 202131394 202131394 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr2:202131394T>C ENST00000358485.4 + 2 558 c.362T>C c.(361-363)cTg>cCg p.L121P CASP8_ENST00000432109.2_Missense_Mutation_p.L62P|CASP8_ENST00000264274.9_Missense_Mutation_p.L62P|CASP8_ENST00000264275.5_Missense_Mutation_p.L62P|CASP8_ENST00000392258.3_Missense_Mutation_p.L62P|CASP8_ENST00000323492.7_Missense_Mutation_p.L62P|CASP8_ENST00000392259.2_Missense_Mutation_p.L62P|CASP8_ENST00000392266.3_Missense_Mutation_p.L62P NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 62 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.L62P(1)|p.L121P(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTGTCCTTCCTGAAGGAGCTG 0.453000 HNSCC(4;0.00038) 6 23 0 0 0.029380 0 0 SIRT3 23410 broad.mit.edu 37 11 219014 219014 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr11:219014C>T ENST00000382743.4 - 6 1099 c.997G>A c.(997-999)Gcc>Acc p.A333T SIRT3_ENST00000529382.1_Missense_Mutation_p.A191T|SIRT3_ENST00000525319.1_Missense_Mutation_p.A252T|SIRT3_ENST00000524564.1_Missense_Mutation_p.A269T|SIRT3_ENST00000532956.1_Missense_Mutation_p.A279T NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 333 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) CTCCGCACGGCCTCGGTCAAG 0.612000 8 13 0 0 0.047766 0 0 OR6C4 341418 broad.mit.edu 37 12 55945682 55945682 + Silent SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:55945682G>T ENST00000394256.2 + 1 700 c.672G>T c.(670-672)ctG>ctT p.L224L RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 GGACTATTCTGAGGATCCCTT 0.468000 13 64 4.36969e-10 4.87389e-10 0.105934 1 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 35 0 0 0.029380 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 3 48 0 0 0.115264 0 0 AGBL1 123624 broad.mit.edu 37 15 87531246 87531246 + Missense_Mutation SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr15:87531246C>G ENST00000441037.2 + 23 3207 c.3112C>G c.(3112-3114)Cat>Gat p.H1038D RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000421325.2_Missense_Mutation_p.H1038D|AGBL1_ENST00000389298.3_Missense_Mutation_p.H769D NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 1038 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 cctgccaaagcatatttggtt 0.348000 43 104 0 0 0.131918 0 0 LRP1B 53353 broad.mit.edu 37 2 141806672 141806672 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr2:141806672G>T ENST00000389484.3 - 11 2643 c.1672C>A c.(1672-1674)Cct>Act p.P558T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 558 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGCACGAGGGTTTACCAGA 0.438000 TSP Lung(27;0.18) 31 116 1.61788e-16 1.82208e-16 0.050027 1 0 PTPDC1 138639 broad.mit.edu 37 9 96859910 96859910 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr9:96859910G>A ENST00000375360.3 + 7 1240 c.900G>A c.(898-900)gcG>gcA p.A300A PTPDC1_ENST00000288976.3_Silent_p.A352A NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 300 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 TGGACTTAGCGGAGAACAGGC 0.468000 3 55 0 0 0.009096 0 0 OAS2 4939 broad.mit.edu 37 12 113444282 113444282 + Silent SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:113444282A>G ENST00000392583.2 + 8 1740 c.1533A>G c.(1531-1533)aaA>aaG p.K511K OAS2_ENST00000342315.4_Silent_p.K511K|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 511 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ATCTGTATAAATCCTCGGACC 0.512000 26 69 0 0 0.099896 0 0 RAI1 10743 broad.mit.edu 37 17 17696924 17696924 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr17:17696924C>T ENST00000353383.1 + 3 1131 c.662C>T c.(661-663)aCc>aTc p.T221I RAI1_ENST00000261641.6_Missense_Mutation_p.T221I NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 221 Gln-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) ACCTCCTCCACCTACTCCTCC 0.627000 36 68 0 0 0.064281 0 0 LAMA3 3909 broad.mit.edu 37 18 21444832 21444832 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr18:21444832G>A ENST00000313654.9 + 36 4909 c.4668G>A c.(4666-4668)ccG>ccA p.P1556P LAMA3_ENST00000399516.3_Silent_p.P1556P NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1556 Laminin IV type A. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAAAGAAGCCGGATGTACAGC 0.448000 3 51 0 0 0.115264 0 0 RASA1 5921 broad.mit.edu 37 5 86681171 86681171 + Nonsense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:86681171C>T ENST00000456692.2 + 22 2396 c.2281C>T c.(2281-2283)Cag>Tag p.Q761* RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q772*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q771*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q938* NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 938 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TAAATCTGTGCAGAACTTAGC 0.353000 4 24 0 0 0.014758 0 0 GPBP1 65056 broad.mit.edu 37 5 56546884 56546884 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:56546884C>T ENST00000424459.3 + 11 2410 c.1136C>T c.(1135-1137)gCc>gTc p.A379V GPBP1_ENST00000506184.2_Missense_Mutation_p.A359V|GPBP1_ENST00000511209.1_Missense_Mutation_p.A351V|GPBP1_ENST00000454432.2_Missense_Mutation_p.A379V|GPBP1_ENST00000514387.2_Missense_Mutation_p.A188V|GPBP1_ENST00000538707.1_Missense_Mutation_p.A366V|GPBP1_ENST00000264779.6_Missense_Mutation_p.A366V NM_022913.3 NP_075064.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) AATGGCAATGCCTCAGTGATT 0.393000 19 37 0 0 0.043863 0 0 VWA3B 200403 broad.mit.edu 37 2 98914449 98914449 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr2:98914449C>T ENST00000477737.1 + 24 3441 c.3237C>T c.(3235-3237)tcC>tcT p.S1079S VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1079 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTCCACCTCCTTCATCACGC 0.577000 9 59 0 0 0.047766 0 0 KANK2 25959 broad.mit.edu 37 19 11280802 11280802 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr19:11280802G>A ENST00000432929.2 - 11 2718 c.2358C>T c.(2356-2358)tgC>tgT p.C786C KANK2_ENST00000589894.1_Silent_p.C778C|KANK2_ENST00000589359.1_Silent_p.C786C|KANK2_ENST00000355150.5_Silent_p.C778C|KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000586659.1_Silent_p.C778C NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 778 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCTCACAGGCGCACATGAGGG 0.637000 15 44 0 0 0.132662 0 0 NT5C1B 93034 broad.mit.edu 37 2 18757571 18757571 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr2:18757571C>T ENST00000304081.4 - 8 1308 c.1208G>A c.(1207-1209)cGt>cAt p.R403H NT5C1B_ENST00000359846.2_Missense_Mutation_p.R463H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R463H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R463H NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) AAAGGCTACACGGAGCTGAGT 0.443000 11 31 0 0 0.080935 0 0 PAF1 54623 broad.mit.edu 37 19 39879970 39879970 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr19:39879970G>A ENST00000221265.3 - 6 743 c.413C>T c.(412-414)tCc>tTc p.S138F PAF1_ENST00000595564.1_Missense_Mutation_p.S128F|PAF1_ENST00000221266.7_Missense_Mutation_p.S128F NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 138 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GAACTCAGTGGAGATGTACTC 0.517000 11 53 0 0 0.080935 0 0 EPB41L5 57669 broad.mit.edu 37 2 120857851 120857851 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr2:120857851G>T ENST00000263713.5 + 15 1424 c.1210G>T c.(1210-1212)Ggc>Tgc p.G404C EPB41L5_ENST00000331393.4_Missense_Mutation_p.G404C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.G404C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.G404C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.G404C NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 404 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 CCAAAGTAATGGCTCCCAACA 0.328000 3 39 0.115264 0.118324 0.115264 1 0 HIST1H4F 8361 broad.mit.edu 37 6 26240713 26240713 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr6:26240713C>T ENST00000377745.2 + 1 153 c.60C>T c.(58-60)cgC>cgT p.R20R NM_003540.3 NP_003531.1 P62805 H4_HUMAN histone cluster 1, H4f 20 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) AGCGCCATCGCAAAGTGCTGC 0.537000 5 18 0 0 0.014758 0 0 LFNG 3955 broad.mit.edu 37 7 2552941 2552941 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr7:2552941C>T ENST00000402506.1 + 2 324 c.198C>T c.(196-198)taC>taT p.Y66Y NM_001166355.1 NP_001159827.1 Q8NES3 LFNG_HUMAN LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 0 organ morphogenesis extracellular region|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2) 6 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.54e-14) TCAGGTCCTACGGAGGTGGCC 0.532000 8 27 0 0 0.047766 0 0 GPR98 84059 broad.mit.edu 37 5 89970029 89970029 + Silent SNP C C A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:89970029C>A ENST00000405460.2 + 23 5184 c.5088C>A c.(5086-5088)atC>atA p.I1696I GPR98_ENST00000450321.2_3'UTR NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1696 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATATCACCATCAAAGCTAGTG 0.423000 6 12 0.0293803 0.0304296 0.029380 1 0 GALNT2 2590 broad.mit.edu 37 1 230381875 230381875 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:230381875G>A ENST00000366672.4 + 8 868 c.796G>A c.(796-798)Gca>Aca p.A266T GALNT2_ENST00000541865.1_Missense_Mutation_p.A176T|GALNT2_ENST00000543760.1_Missense_Mutation_p.A228T NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 266 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A266P(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) GTATGTGGGGGCATCTGCTGA 0.493000 9 45 0 0 0.047766 0 0 KPNA6 23633 broad.mit.edu 37 1 32628883 32628883 + Missense_Mutation SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:32628883A>G ENST00000373625.3 + 10 1052 c.959A>G c.(958-960)aAc>aGc p.N320S KPNA6_ENST00000545542.1_Missense_Mutation_p.N325S|KPNA6_ENST00000537234.1_Missense_Mutation_p.N317S NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 320 NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCCGTGGGTAACATCGTCACT 0.542000 6 18 0 0 0.029380 0 0 DOCK8 81704 broad.mit.edu 37 9 382632 382632 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr9:382632G>A ENST00000432829.2 + 22 2837 c.2521G>A c.(2521-2523)Gcg>Acg p.A841T DOCK8_ENST00000382331.1_Missense_Mutation_p.A211T|DOCK8_ENST00000453981.1_Missense_Mutation_p.A909T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A376T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A841T NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 909 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CCCAGACCTCGCGGGGACACA 0.542000 7 30 0 0 0.029380 0 0 TAOK2 9344 broad.mit.edu 37 16 29994159 29994159 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr16:29994159G>A ENST00000308893.4 + 11 1979 c.936G>A c.(934-936)atG>atA p.M312I TAOK2_ENST00000543033.1_Missense_Mutation_p.M312I|TAOK2_ENST00000279394.3_Missense_Mutation_p.M312I|TAOK2_ENST00000416441.2_Missense_Mutation_p.M139I NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 312 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 ACCGCAAGATGAAGAAGATCC 0.607000 20 61 0 0 0.069288 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023742 18023742 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:18023742G>T ENST00000361221.3 + 29 3866 c.3707G>T c.(3706-3708)tGc>tTc p.C1236F ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.C1009F|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.C1197F|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.C939F NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1236 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) AAGGAGATTTGCTCTGTGGCC 0.687000 13 31 7.03913e-09 7.77656e-09 0.093190 1 0 LOC645752 645752 broad.mit.edu 37 15 78212571 78212571 + RNA SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr15:78212571G>A ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCTGTGTCACGTGTGCGTTCA 0.572000 6 39 0 0 0.038147 0 0 NHS 4810 broad.mit.edu 37 X 17744146 17744146 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chrX:17744146G>A ENST00000380060.3 + 6 2195 c.1857G>A c.(1855-1857)acG>acA p.T619T NHS_ENST00000398097.3_Silent_p.T463T NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 619 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) GCAGCTCCACGTGCCCCTCGC 0.582000 26 100 0 0 0.099896 0 0 NLRP7 199713 broad.mit.edu 37 19 55450492 55450492 + Silent SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr19:55450492C>G ENST00000446217.1 - 6 2181 c.1779G>C c.(1777-1779)gtG>gtC p.V593V NLRP7_ENST00000448121.2_Silent_p.V565V|NLRP7_ENST00000592784.1_Silent_p.V565V|NLRP7_ENST00000588756.1_Silent_p.V565V|NLRP7_ENST00000590030.1_Silent_p.V565V|NLRP7_ENST00000340844.2_Silent_p.V565V|NLRP7_ENST00000328092.5_Silent_p.V565V Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 565 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCAGGTCGGTCACGGATAAGG 0.527000 21 39 0 0 0.049695 0 0 ERC2 26059 broad.mit.edu 37 3 56044571 56044571 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr3:56044571C>T ENST00000288221.6 - 9 2081 c.1826G>A c.(1825-1827)cGg>cAg p.R609Q NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 609 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TAGTCTTTCCCGATCATCTCT 0.413000 13 49 0 0 0.093190 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141591 133141591 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr8:133141591G>A ENST00000388996.4 - 15 2957 c.2537C>T c.(2536-2538)aCg>aTg p.T846M KCNQ3_ENST00000519445.1_Missense_Mutation_p.T834M|KCNQ3_ENST00000521134.1_Missense_Mutation_p.T726M NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 846 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GCCGCTGGGCGTGAAGGGGTC 0.572000 8 34 0 0 0.038147 0 0 MAP3K14 9020 broad.mit.edu 37 17 43343801 43343801 + RNA SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr17:43343801C>T ENST00000344686.2 - 0 2684 MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TTCCTCCCTCCCACTGTGCCA 0.577000 11 28 0 0 0.069234 0 0 PSMB7 5695 broad.mit.edu 37 9 127177670 127177670 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr9:127177670C>T ENST00000536392.1 - 1 51 c.35G>A c.(34-36)gGa>gAa p.G12E PSMB7_ENST00000259457.3_Missense_Mutation_p.G12E Q99436 PSB7_HUMAN proteasome (prosome, macropain) subunit, beta type, 7 12 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1) 5 AGAGAAGCCTCCAACTGGTGG 0.607000 OREG0019476 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 0.058154 0 0 BAGE2 85319 broad.mit.edu 37 21 11058322 11058322 + RNA SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr21:11058322C>T ENST00000470054.1 - 0 325 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AAATGCACATCGCTGAAAGGG 0.383000 13 159 0 0 0.119110 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100657103 100657103 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr15:100657103C>T ENST00000268070.4 - 13 1942 c.1837G>A c.(1837-1839)Gac>Aac p.D613N NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 613 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CTCAGCCGGTCGTGTGCCTGG 0.627000 22 38 0 0 0.069288 0 0 SAMD15 161394 broad.mit.edu 37 14 77844099 77844099 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr14:77844099G>A ENST00000216471.4 + 1 624 c.338G>A c.(337-339)aGa>aAa p.R113K SAMD15_ENST00000533095.2_Intron NM_001010860.1 NP_001010860.1 Q9P1V8 SAM15_HUMAN sterile alpha motif domain containing 15 113 breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GAAACATCCAGAGAGATGGGA 0.493000 19 125 0 0 0.049695 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713956 142713956 + RNA SNP G G A rs12161184 by1000genomes TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:142713956G>A ENST00000369381.2 - 0 649 AAGTTAAAGAGTAACCTGCAC 0.308000 4 17 0 0 0.014758 0 0 LRBA 987 broad.mit.edu 37 4 151842388 151842388 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr4:151842388G>A ENST00000535741.1 - 5 1080 c.607C>T c.(607-609)Cct>Tct p.P203S LRBA_ENST00000510413.1_Missense_Mutation_p.P203S|LRBA_ENST00000507224.1_Missense_Mutation_p.P203S|LRBA_ENST00000357115.3_Missense_Mutation_p.P203S P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 203 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AAGGCATCAGGACCATACTTC 0.383000 25 52 0 0 0.116897 0 0 HPS6 79803 broad.mit.edu 37 10 103826339 103826339 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr10:103826339G>A ENST00000299238.5 + 1 1193 c.1108G>A c.(1108-1110)Gag>Aag p.E370K NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 370 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGAAGAGCTGGAGACCCGAGG 0.582000 Hermansky-Pudlak syndrome 12 47 0 0 0.093190 0 0 NFATC2 4773 broad.mit.edu 37 20 50140118 50140118 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr20:50140118G>A ENST00000371564.3 - 2 881 c.662C>T c.(661-663)tCa>tTa p.S221L NFATC2_ENST00000414705.1_Missense_Mutation_p.S201L|NFATC2_ENST00000396009.3_Missense_Mutation_p.S221L NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 221 3 X approximate SP repeats. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGTTCGAGGTGACATTATTGG 0.652000 20 71 0 0 0.055883 0 0 DSEL 92126 broad.mit.edu 37 18 65179933 65179933 + Missense_Mutation SNP T T A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr18:65179933T>A ENST00000310045.7 - 2 3416 c.1943A>T c.(1942-1944)gAt>gTt p.D648V CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 638 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) GCCATGATGATCAAACCAAAA 0.348000 12 44 0 0 0.093190 0 0 ACSBG1 23205 broad.mit.edu 37 15 78526821 78526821 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr15:78526821C>T ENST00000258873.4 - 1 228 c.23G>A c.(22-24)gGa>gAa p.G8E ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000558828.1_Intron NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 8 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 GCAGCCGTATCCAGCTCCAGA 0.597000 38 195 0 0 0.074837 0 0 HR 55806 broad.mit.edu 37 8 21976769 21976769 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr8:21976769C>T ENST00000381418.4 - 15 4485 c.3005G>A c.(3004-3006)gGg>gAg p.G1002E HR_ENST00000312841.8_Missense_Mutation_p.G1002E NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 1002 JmjC. DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTTCTTGGTCCCCAGGTGTCC 0.597000 6 34 0 0 0.021553 0 0 AFF4 27125 broad.mit.edu 37 5 132269973 132269973 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:132269973C>T ENST00000265343.5 - 3 1163 c.784G>A c.(784-786)Gga>Aga p.G262R AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.G262R NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 262 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACTCCTGTCCGTCCATGGGC 0.512000 15 61 0 0 0.146539 0 0 TP53 7157 broad.mit.edu 37 17 7579374 7579374 + Missense_Mutation SNP C C A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr17:7579374C>A ENST00000420246.2 - 4 445 c.313G>T c.(313-315)Ggc>Tgc p.G105C TP53_ENST00000269305.4_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 105 Interaction with HIPK1 (By similarity).|Interaction with WWOX. G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCGTAGCTGCCCTGGTAGGTT 0.627000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 38 3.99451e-17 4.54277e-17 0.144211 1 0 THAP11 57215 broad.mit.edu 37 16 67876720 67876720 + Missense_Mutation SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr16:67876720G>C ENST00000303596.1 + 1 508 c.263G>C c.(262-264)cGc>cCc p.R88P CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) GTCAATGAGCGCAAAGTAGCG 0.682000 7 17 0 0 0.038147 0 0 TCTE1 202500 broad.mit.edu 37 6 44254022 44254022 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr6:44254022C>T ENST00000371505.4 - 3 647 c.525G>A c.(523-525)gcG>gcA p.A175A TCTE1_ENST00000371504.1_Silent_p.A22A|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Silent_p.A22A NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 175 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CGAGGATCACCGCAGGGTCTG 0.652000 20 41 0 0 0.043863 0 0 ZNF189 7743 broad.mit.edu 37 9 104170879 104170879 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr9:104170879G>A ENST00000374861.3 + 3 1071 c.787G>A c.(787-789)Gag>Aag p.E263K ZNF189_ENST00000339664.2_Missense_Mutation_p.E277K|ZNF189_ENST00000259395.4_Missense_Mutation_p.E235K NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 277 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) ACACCTTATTGAGCATCAAAG 0.393000 55 106 0 0 0.139131 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr9:21971028C>T ENST00000304494.5 - 2 600 c.330G>A c.(328-330)tgG>tgA p.W110* RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 10 17 0 0 0.093190 0 0 AFF2 2334 broad.mit.edu 37 X 148055022 148055022 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chrX:148055022G>A ENST00000370460.2 + 16 3768 c.3289G>A c.(3289-3291)Gtg>Atg p.V1097M AFF2_ENST00000342251.3_Missense_Mutation_p.V1064M|AFF2_ENST00000370457.5_Missense_Mutation_p.V1062M|AFF2_ENST00000286437.5_Missense_Mutation_p.V738M NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1097 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TGGCAAAGCTGTGAATTATGC 0.463000 25 85 0 0 0.099896 0 0 SORCS3 22986 broad.mit.edu 37 10 106899230 106899230 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr10:106899230T>C ENST00000369701.3 + 8 1515 c.1288T>C c.(1288-1290)Tac>Cac p.Y430H NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 430 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GCTGCCTAAGTACTCGTTGCC 0.512000 14 53 0 0 0.146539 0 0 CYB5R1 51706 broad.mit.edu 37 1 202935050 202935050 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:202935050C>T ENST00000367249.4 - 4 384 c.310G>A c.(310-312)Gat>Aat p.D104N NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 104 FAD-binding FR-type. sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) TGATCCTCATCACTGGTGACA 0.507000 6 26 0 0 0.021553 0 0 TNKS 8658 broad.mit.edu 37 8 9605599 9605599 + Silent SNP G G A rs35491087 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr8:9605599G>A ENST00000310430.6 + 18 2735 c.2709G>A c.(2707-2709)gcG>gcA p.A903A TNKS_ENST00000518281.1_Silent_p.A666A NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 903 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) ATAAGTGGGCGTTTACTCCCC 0.473000 8 31 0 0 0.038147 0 0 SEC61A2 55176 broad.mit.edu 37 10 12191922 12191922 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr10:12191922G>A ENST00000379033.3 + 5 505 c.358G>A c.(358-360)Gaa>Aaa p.E120K SEC61A2_ENST00000379017.3_Missense_Mutation_p.E142K|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379051.1_Missense_Mutation_p.E142K|SEC61A2_ENST00000379020.4_Missense_Mutation_p.E142K|SEC61A2_ENST00000298428.9_Missense_Mutation_p.E142K|SEC61A2_ENST00000304267.8_Missense_Mutation_p.E142K NM_001142628.1 NP_001136100.1 Q9H9S3 S61A2_HUMAN Sec61 alpha 2 subunit (S. cerevisiae) 142 endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Renal(717;0.228) GGACCCTGCAGAAATGGGTGC 0.428000 15 60 0 0 0.033300 0 0 HBG2 3048 broad.mit.edu 37 11 5274626 5274626 + Missense_Mutation SNP T T A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr11:5274626T>A ENST00000380259.2 - 8 1565 c.325A>T c.(325-327)Aat>Tat p.N109Y HBG2_ENST00000336906.4_Missense_Mutation_p.N109Y|HBG2_ENST00000380252.1_Missense_Mutation_p.N99Y hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAGCACATTTCCCAGGAGC 0.522000 7 27 0 0 0.069234 0 0 RIMBP2 23504 broad.mit.edu 37 12 130892282 130892282 + Missense_Mutation SNP C C T rs142858015 byFrequency TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:130892282C>T ENST00000261655.4 - 16 3077 c.2914G>A c.(2914-2916)Gtc>Atc p.V972I NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 972 SH3 3. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGACATCGACGTTGGGCGAG 0.567000 52 186 0 0 0.139131 0 0 GAS2L2 246176 broad.mit.edu 37 17 34077219 34077219 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr17:34077219G>A ENST00000254466.6 - 2 531 c.504C>T c.(502-504)ctC>ctT p.L168L GAS2L2_ENST00000587565.1_Silent_p.L168L NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 168 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCAGCTGCACGAGTGTGGGCG 0.721000 31 132 0 0 0.050027 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 36 0 0 0.021553 0 0 GRM8 2918 broad.mit.edu 37 7 126746580 126746580 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr7:126746580C>T ENST00000339582.2 - 3 1505 c.697G>A c.(697-699)Gag>Aag p.E233K GRM8_ENST00000444921.2_Missense_Mutation_p.E233K|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E233K|GRM8_ENST00000405249.1_Missense_Mutation_p.E233K O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 233 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GTGAAGGCCTCCACACCGCTC 0.498000 HNSCC(24;0.065) 7 20 0 0 0.029380 0 0 FAT1 2195 broad.mit.edu 37 4 187549812 187549812 + Nonsense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr4:187549812G>A ENST00000441802.2 - 8 4638 c.4429C>T c.(4429-4431)Caa>Taa p.Q1477* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1477 Cadherin 13. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GCACTGATTTGCAAAATTTCT 0.393000 HNSCC(5;0.00058) 9 27 0 0 0.069234 0 0 CELF2 10659 broad.mit.edu 37 10 11370983 11370983 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr10:11370983G>A ENST00000379261.4 + 13 1586 c.1494G>A c.(1492-1494)ctG>ctA p.L498L CELF2_ENST00000542579.1_Silent_p.L511L|CELF2_ENST00000354440.2_Silent_p.L480L|CELF2_ENST00000450189.1_Silent_p.L511L|CELF2_ENST00000354897.3_Silent_p.L492L|CELF2_ENST00000427450.1_Silent_p.L480L|CELF2_ENST00000399850.3_Silent_p.L480L|CELF2_ENST00000416382.2_Silent_p.L498L|CELF2_ENST00000417956.2_Silent_p.L478L|CELF2_ENST00000537122.1_Silent_p.L393L|CELF2_ENST00000315874.3_Silent_p.L480L NM_001025077.2 NP_001020248.1 O95319 CELF2_HUMAN CUGBP, Elav-like family member 2 498 Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. mRNA processing|regulation of heart contraction cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 16 AGGTGCAGCTGAAGCGTTCCA 0.488000 12 59 0 0 0.105934 0 0 ADAM28 10863 broad.mit.edu 37 8 24209561 24209561 + Missense_Mutation SNP C C G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr8:24209561C>G ENST00000265769.4 + 21 2350 c.2240C>G c.(2239-2241)tCt>tGt p.S747C ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 747 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CCCCCAGCCTCTTTTGTGAGT 0.408000 9 58 0 0 0.058154 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 32 0 0 0.014758 0 0 MAEL 84944 broad.mit.edu 37 1 166985521 166985521 + Splice_Site SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:166985521C>T ENST00000367872.4 + 9 1152 c.908_splice c.e9+1 p.A303_splice MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Splice_Site_p.A272_splice NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 303 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding p.A303V(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 AAGAAGATTGCGTAAGTTGGG 0.368000 11 52 0 0 0.080935 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31965096 31965096 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr21:31965096G>A ENST00000391624.1 + 1 338 c.311G>A c.(310-312)tGa>tAa p.*104* NM_181605.3 NP_853636.3 keratin associated protein 6-3 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7) 10 TACTACTATTGAGGACACCAT 0.512000 3 11 0 0 0.115264 0 0 TRIO 7204 broad.mit.edu 37 5 14488246 14488246 + Silent SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:14488246G>C ENST00000344204.4 + 48 7533 c.7509G>C c.(7507-7509)ccG>ccC p.P2503P TRIO_ENST00000537187.1_Intron NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2503 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCACCTTCCCGGGGGACAGCG 0.721000 4 15 0 0 0.014758 0 0 RAD51AP1 10635 broad.mit.edu 37 12 4665701 4665701 + Missense_Mutation SNP T T C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:4665701T>C ENST00000543041.1 + 7 858 c.550T>C c.(550-552)Tgg>Cgg p.W184R RAD51AP1_ENST00000228843.9_Intron|RAD51AP1_ENST00000544927.1_Intron|RAD51AP1_ENST00000544931.1_Intron|RAD51AP1_ENST00000352618.4_Intron|RAD51AP1_ENST00000321524.7_Intron Q96B01 R51A1_HUMAN RAD51 associated protein 1 307 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) GACAGGAGCTTGGAAAATTAT 0.378000 5 25 0 0 0.014758 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561896 11561896 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:11561896G>A ENST00000294484.6 + 2 985 c.847G>A c.(847-849)Ggc>Agc p.G283S PTCHD2_ENST00000389575.3_Missense_Mutation_p.G283S NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 283 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCTGGCGCGCGGCGACGCGGA 0.647000 5 20 0 0 0.029380 0 0 CLEC9A 283420 broad.mit.edu 37 12 10213747 10213747 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:10213747C>T ENST00000355819.1 + 6 807 c.194C>T c.(193-195)gCg>gTg p.A65V NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 65 positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 TCCACCATTGCGATGCAGCAG 0.403000 5 16 0 0 0.014758 0 0 RASAL2 9462 broad.mit.edu 37 1 178411963 178411963 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:178411963G>A ENST00000448150.3 + 8 1845 c.1027G>A c.(1027-1029)Ggc>Agc p.G343S RASAL2_ENST00000462775.1_Missense_Mutation_p.G213S|RASAL2_ENST00000367649.3_Missense_Mutation_p.G361S NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 213 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 TATTTTCTGGGGCGAACATTT 0.388000 16 84 0 0 0.043863 0 0 OR4C15 81309 broad.mit.edu 37 11 55322484 55322484 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr11:55322484G>T ENST00000314644.2 + 1 702 c.702G>T c.(700-702)ttG>ttT p.L234F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGTGTGACTTGTACCCGTTAC 0.458000 HNSCC(20;0.049) 7 27 0.0293803 0.0304296 0.029380 1 0 RNF128 79589 broad.mit.edu 37 X 105937342 105937342 + Missense_Mutation SNP A A G TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chrX:105937342A>G ENST00000324342.3 + 1 275 c.110A>G c.(109-111)tAc>tGc p.Y37C NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 52 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 GTGACTTATTACAATGAAACC 0.388000 24 90 0 0 0.076483 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475797 140475797 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:140475797G>A ENST00000194155.4 + 1 1571 c.1423G>A c.(1423-1425)Gtc>Atc p.V475I NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 475 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATCGGCAGCGTCAGCGCCAC 0.667000 34 117 0 0 0.131918 0 0 CARM1 10498 broad.mit.edu 37 19 11018790 11018790 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr19:11018790C>T ENST00000327064.4 + 3 612 c.422C>T c.(421-423)aCg>aTg p.T141M CARM1_ENST00000344150.4_Missense_Mutation_p.T141M NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 141 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 AGCGAGCGGACGGAGGAGTCT 0.637000 15 77 0 0 0.146539 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43472974 43472974 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr17:43472974G>A ENST00000532038.1 - 16 1987 c.1852C>T c.(1852-1854)Cgc>Tgc p.R618C ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R472C|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R818C|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R499C|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R813C|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R840C|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R499C Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 840 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) ACCGACATGCGGTTCTGCTCG 0.667000 3 9 0 0 0.009096 0 0 FAT4 79633 broad.mit.edu 37 4 126371855 126371855 + Silent SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr4:126371855G>C ENST00000394329.3 + 9 9697 c.9684G>C c.(9682-9684)gtG>gtC p.V3228V FAT4_ENST00000335110.5_Silent_p.V1526V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3228 Cadherin 31. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAAATGCTGTGATTGCGTATA 0.428000 9 50 0 0 0.058154 0 0 TIPARP 25976 broad.mit.edu 37 3 156396202 156396202 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr3:156396202G>A ENST00000461166.1 + 2 1304 c.716G>A c.(715-717)gGa>gAa p.G239E TIPARP_ENST00000486483.1_Missense_Mutation_p.G239E|TIPARP_ENST00000295924.7_Missense_Mutation_p.G239E|TIPARP_ENST00000542783.1_Missense_Mutation_p.G239E NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 239 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CAAGAGAACGGAATTGAAATT 0.458000 22 127 0 0 0.069288 0 0 FIGN 55137 broad.mit.edu 37 2 164467771 164467771 + Missense_Mutation SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr2:164467771C>T ENST00000333129.3 - 3 885 c.571G>A c.(571-573)Gga>Aga p.G191R FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 191 nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AAATATGATCCGTTGTATCCT 0.507000 6 39 0 0 0.021553 0 0 PCDHB13 56123 broad.mit.edu 37 5 140595724 140595724 + Missense_Mutation SNP G G C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:140595724G>C ENST00000341948.4 + 1 2216 c.2029G>C c.(2029-2031)Gcc>Ccc p.A677P NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 677 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCGGAGGCGGCCCCGACCCA 0.682000 36 114 0 0 0.074837 0 0 RBM12B 389677 broad.mit.edu 37 8 94746535 94746535 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr8:94746535G>A ENST00000399300.2 - 3 2317 c.2104C>T c.(2104-2106)Ccc>Tcc p.P702S RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 702 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) TCCTCTGGGGGCCGCCTGAAG 0.642000 34 124 0 0 0.050027 0 0 DUSP27 92235 broad.mit.edu 37 1 167095880 167095880 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr1:167095880G>A ENST00000361200.2 + 6 1678 c.1512G>A c.(1510-1512)gcG>gcA p.A504A DUSP27_ENST00000443333.1_Silent_p.A504A|DUSP27_ENST00000271385.5_Silent_p.A504A|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 504 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAGAGGAGGCGGCAGACAGGA 0.602000 11 29 0 0 0.080935 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14782606 14782606 + Missense_Mutation SNP A A C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr18:14782606A>C ENST00000358984.4 + 12 1743 c.1563A>C c.(1561-1563)gaA>gaC p.E521D ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E521D NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 521 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TAAATAGAGAAGTAGAAGGTA 0.313000 6 13 0 0 0.021553 0 0 CCDC107 203260 broad.mit.edu 37 9 35658653 35658653 + Missense_Mutation SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr9:35658653G>A ENST00000421582.2 + 2 250 c.187G>A c.(187-189)Gcc>Acc p.A63T CCDC107_ENST00000327351.2_Missense_Mutation_p.A63T|CCDC107_ENST00000426546.2_Missense_Mutation_p.A63T|CCDC107_ENST00000378407.3_Missense_Mutation_p.A63T|CCDC107_ENST00000378406.1_Missense_Mutation_p.A63T|CCDC107_ENST00000378409.3_Missense_Mutation_p.A63T Q8WV48 CC107_HUMAN coiled-coil domain containing 107 63 integral to membrane endometrium(1)|lung(3)|skin(1) 5 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCGGACCCGGGCCGGGTCGCT 0.716000 8 13 0 0 0.038147 0 0 LRP1 4035 broad.mit.edu 37 12 57579467 57579467 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:57579467G>T ENST00000243077.3 + 41 7083 c.6617G>T c.(6616-6618)cGc>cTc p.R2206L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2206 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) TACTCAGAGCGCACCATTCTC 0.642000 6 22 0.0215528 0.0227284 0.021553 1 0 OPLAH 26873 broad.mit.edu 37 8 145107418 145107418 + Silent SNP G G A TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr8:145107418G>A ENST00000426825.1 - 23 3318 c.3237C>T c.(3235-3237)aaC>aaT p.N1079N OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 1079 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) ACGTGAGCACGTTGCCGCCCA 0.771000 3 7 0 0 0.115264 0 0 SDHAP3 728609 broad.mit.edu 37 5 1593386 1593386 + RNA SNP A A C TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr5:1593386A>C ENST00000436493.2 - 0 239 CTGGCCATTCACGTGCCTCAG 0.597000 3 39 0 0 0.115264 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 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.Q269Q(15) 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 gctgctgctgctgttgttgtt 0.537000 4 46 0 0 0.009096 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524270 73524270 + Missense_Mutation SNP G G T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chrX:73524270G>T ENST00000339534.2 + 1 246 c.169G>T c.(169-171)Gct>Tct p.A57S NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 57 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 CGGTCGTAATGCTAAGAACTG 0.527000 6 27 0.00116845 0.00124348 0.021553 1 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr21:11058248G>A ENST00000470054.1 - 0 399 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433000 13 105 0 0 0.033300 0 0 GS1-124K5.2 0 broad.mit.edu 37 7 65888987 65888988 + RNA INS - - T rs77289928 TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr7:65888987_65888988insT ENST00000442578.1 - 0 826 Ctttttttttcttttttttttt 0.485 2 4 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100388502 100388504 + RNA DEL AAA AAA - rs5886138 TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr7:100388502_100388504delAAA ENST00000542585.1 + 0 7502 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) aagactgtctaaaaaaaaaaaaa 0.527 2 4 --- --- --- --- APOLD1 81575 broad.mit.edu 37 12 12940351 12940353 + In_Frame_Del DEL TCT TCT - TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr12:12940351_12940353delTCT ENST00000356591.4 + 2 597_599 c.512_514delTCT c.(511-516)gtc>g p.VF171del RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_In_Frame_Del_p.VF202del NM_030817.2 NP_110444.3 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 202 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) TACTTCATCGTCTTCTTTGGCTC 0.616 45 129 --- --- --- --- LOC100134368 100134368 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 2 4 --- --- --- --- MORC4 79710 broad.mit.edu 37 X 106228467 106228468 + Frame_Shift_Ins INS - - T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 741ec714-2c58-4d0c-a373-be69346da938 g.chrX:106228467_106228468insT ENST00000355610.4 - 5 806_807 c.532_533insA c.(532-534)gatfs p.D178fs MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Frame_Shift_Ins_p.D178fs NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 178 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GGTAATAATCATTTTTTGTAAA 0.361 15 54 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100388502 100388504 + RNA DEL AAA AAA - rs5886138 TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr7:100388502_100388504delAAA ENST00000542585.1 + 0 7502 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) aagactgtctaaaaaaaaaaaaa 0.527 2 4 --- --- --- --- TRBV29-1 28558 broad.mit.edu 37 7 142448200 142448207 + RNA DEL GGTGGAAA GGTGGAAA - rs149832120 by1000genomes TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr7:142448200_142448207delGGTGGAAA ENST00000422143.2 + 0 101 GTTAACACTGGGTGGAAAGGTGGAAAGA 0.457 5 2 --- --- --- --- APOLD1 81575 broad.mit.edu 37 12 12940351 12940353 + In_Frame_Del DEL TCT TCT - TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr12:12940351_12940353delTCT ENST00000356591.4 + 2 597_599 c.512_514delTCT c.(511-516)gtc>g p.VF171del APOLD1_ENST00000326765.6_In_Frame_Del_p.VF202del|RP11-59H1.3_ENST00000534843.1_Intron NM_030817.2 NP_110444.3 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 202 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) TACTTCATCGTCTTCTTTGGCTC 0.616 45 129 --- --- --- --- LOC100134368 100134368 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 2 4 --- --- --- --- MORC4 79710 broad.mit.edu 37 X 106228467 106228468 + Frame_Shift_Ins INS - - T TCGA-CV-7413-01A-11D-2078-08 TCGA-CV-7413-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx be482a19-0de0-4e60-a831-9ebe8545a6f3 f1a86ffc-1ef4-4a37-b3b8-5971f31e0842 g.chrX:106228467_106228468insT ENST00000355610.4 - 5 806_807 c.532_533insA c.(532-534)gatfs p.D178fs MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Frame_Shift_Ins_p.D178fs NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 178 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 GGTAATAATCATTTTTTGTAAA 0.361 15 54 --- --- --- ---