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 HPX 3263 broad.mit.edu 37 11 6452483 6452483 + Silent SNP C C T rs143855789 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:6452483C>T ENST00000265983.3 - 10 1447 c.1347G>A c.(1345-1347)ccG>ccA p.P449P NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 449 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TCTGGGGTTGCGGAAGGGCCT 0.542000 6 69 0 0 0.001168 0 0 OR52D1 390066 broad.mit.edu 37 11 5509984 5509984 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:5509984C>T ENST00000322641.5 + 1 70 c.48C>T c.(46-48)ttC>ttT p.F16F AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACACCTTCTTCTTAACAGGGA 0.488000 18 67 0 0 0.008871 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092703 151092703 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:151092703C>G ENST00000360243.2 + 3 834 c.567C>G c.(565-567)ggC>ggG p.G189G MAGEA4_ENST00000370340.3_Silent_p.G189G|MAGEA4_ENST00000370335.1_Silent_p.G189G|MAGEA4_ENST00000370337.4_Silent_p.G189G|MAGEA4_ENST00000393921.1_Silent_p.G189G|MAGEA4_ENST00000276344.2_Silent_p.G189G|MAGEA4_ENST00000393920.1_Silent_p.G189G NM_001011550.1 NP_001011550.1 P43358 MAGA4_HUMAN melanoma antigen family A, 4 189 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) CCTATGATGGCCTGCTGGGTA 0.537000 15 161 0 0 0.002450 0 0 RBP3 5949 broad.mit.edu 37 10 48388751 48388751 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:48388751C>T ENST00000224600.4 - 1 2240 c.2127G>A c.(2125-2127)gtG>gtA p.V709V NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 709 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CTTCCTCTACCACCAGCTCGC 0.627000 15 51 0 0 0.004007 0 0 WDR62 284403 broad.mit.edu 37 19 36572390 36572390 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:36572390C>T ENST00000401500.2 + 10 1324 c.1289C>T c.(1288-1290)aCt>aTt p.T430I WDR62_ENST00000388999.3_Missense_Mutation_p.T430I|WDR62_ENST00000270301.7_Missense_Mutation_p.T430I NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 430 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCCTTTCTGACTTGTTCTTCA 0.468000 15 115 0 0 0.003163 0 0 SNTG1 54212 broad.mit.edu 37 8 51571204 51571204 + Missense_Mutation SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:51571204T>C ENST00000522124.1 + 15 1680 c.1019T>C c.(1018-1020)aTt>aCt p.I340T SNTG1_ENST00000276467.5_Missense_Mutation_p.I340T|SNTG1_ENST00000518864.1_Missense_Mutation_p.I340T|SNTG1_ENST00000517473.1_Missense_Mutation_p.I340T NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 340 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTTTATGAGATTATGTGCAAG 0.358000 26 30 0 0 0.007291 0 0 LANCL3 347404 broad.mit.edu 37 X 37431412 37431412 + Nonsense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:37431412A>T ENST00000378621.3 + 1 591 c.289A>T c.(289-291)Aag>Tag p.K97* TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Nonsense_Mutation_p.K97* NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 97 catalytic activity lung(4)|pancreas(1) 5 GCGCTCGGCTAAGCGCCTCAT 0.716000 4 13 0 0 0.000248 0 0 SPATA17 128153 broad.mit.edu 37 1 217856693 217856693 + Missense_Mutation SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:217856693G>T ENST00000366933.4 + 5 440 c.385G>T c.(385-387)Gat>Tat p.D129Y NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 129 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AGAGACCAATGATGCAATTAG 0.343000 61 60 4.09171e-25 1.10677e-24 0.003610 1 0 SERPINB9 5272 broad.mit.edu 37 6 2900802 2900802 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:2900802A>G ENST00000380698.4 - 2 133 c.44T>C c.(43-45)cTt>cCt p.L15P NM_004155.5 NP_004146.1 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 9 15 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TATCTTTAAAAGGCGTATGGC 0.473000 3 162 0 0 0.000248 0 0 SPTAN1 6709 broad.mit.edu 37 9 131367378 131367378 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:131367378G>C ENST00000358161.5 + 30 3898 c.3785G>C c.(3784-3786)gGa>gCa p.G1262A SPTAN1_ENST00000372731.4_Missense_Mutation_p.G1262A|SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1262A Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1262 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GACAATTATGGACATGATCTC 0.488000 5 42 0 0 0.000602 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351652 89351652 + Missense_Mutation SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:89351652A>C ENST00000301030.4 - 9 1758 c.1298T>G c.(1297-1299)aTa>aGa p.I433R ANKRD11_ENST00000378330.2_Missense_Mutation_p.I433R NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 433 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ACCAGGCAATATCGTATGTGC 0.488000 6 89 0 0 0.001984 0 0 PRG4 10216 broad.mit.edu 37 1 186277190 186277190 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:186277190G>A ENST00000445192.2 + 7 2384 c.2339G>A c.(2338-2340)gGg>gAg p.G780E PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.G739E|PRG4_ENST00000367486.3_Missense_Mutation_p.G737E|PRG4_ENST00000367485.4_Missense_Mutation_p.G687E NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 780 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCCTAAGGGGACTGCTCCA 0.607000 5 231 0 0 0.000602 0 0 SFR1 119392 broad.mit.edu 37 10 105882813 105882813 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:105882813C>T ENST00000336358.5 + 1 809 c.290C>T c.(289-291)tCa>tTa p.S97L SFR1_ENST00000463224.1_3'UTR|SFR1_ENST00000369729.3_Missense_Mutation_p.S22L|SFR1_ENST00000369727.3_Missense_Mutation_p.S35L Q86XK3 SFR1_HUMAN SWI5-dependent recombination repair 1 35 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding p.S22L(1) GCGAATCCATCATCTCCCTAT 0.398000 13 105 0 0 0.004007 0 0 MKI67 4288 broad.mit.edu 37 10 129913712 129913712 + Silent SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:129913712T>C ENST00000368654.3 - 7 1335 c.960A>G c.(958-960)ggA>ggG p.G320G MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 320 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCACGTCTCTTCCCTTCCCCT 0.547000 18 79 0 0 0.004990 0 0 IGSF10 285313 broad.mit.edu 37 3 151161398 151161398 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:151161398C>A ENST00000282466.3 - 5 5336 c.5337G>T c.(5335-5337)tgG>tgT p.W1779C NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1779 Ig-like C2-type 4. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGCAAGAATCCAGGTAACTG 0.498000 16 93 9.16793e-09 2.35136e-08 0.004990 1 0 SULF1 23213 broad.mit.edu 37 8 70476367 70476367 + Nonsense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:70476367C>T ENST00000260128.4 + 5 874 c.157C>T c.(157-159)Caa>Taa p.Q53* SULF1_ENST00000402687.4_Nonsense_Mutation_p.Q53*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.Q53*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.Q53* NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 53 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TACCGATGATCAAGATGTGGA 0.468000 26 108 0 0 0.005443 0 0 PGM5 5239 broad.mit.edu 37 9 71098810 71098810 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:71098810C>T ENST00000396396.1 + 9 1554 c.1325C>T c.(1324-1326)aCg>aTg p.T442M NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 442 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 GATCCCAAGACGACATATTAT 0.512000 15 51 0 0 0.002450 0 0 SETMAR 6419 broad.mit.edu 37 3 4355272 4355272 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:4355272C>G ENST00000358065.4 + 2 914 c.847C>G c.(847-849)Cta>Gta p.L283V SETMAR_ENST00000430981.1_Missense_Mutation_p.L283V|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron NM_006515.3 NP_006506.3 Q53H47 SETMR_HUMAN SET domain and mariner transposase fusion gene 270 Histone-lysine N-methyltransferase.|Post-SET. DNA integration|DNA repair|transposition, DNA-mediated chromosome|nucleus DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Melanoma(143;0.0657) Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114) TCATGGGAAACTAAGGAAACC 0.403000 Chromatin Structure 10 34 0 0 0.008291 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 4 24 0 0 0.003080 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378780 31378780 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:31378780C>G ENST00000297142.3 - 2 425 c.103G>C c.(103-105)Gaa>Caa p.E35Q NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 35 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GAAAAGCTTTCTGGCTTCTTA 0.448000 37 121 0 0 0.004289 0 0 BAGE2 85319 broad.mit.edu 37 21 11047519 11047519 + RNA SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr21:11047519T>A ENST00000470054.1 - 0 735 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) GATTTCATAATTCGTTGAAGA 0.348000 7 325 0 0 0.003080 0 0 FOXG1 2290 broad.mit.edu 37 14 29237757 29237757 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:29237757G>A ENST00000382535.3 + 2 1641 c.1272G>A c.(1270-1272)ccG>ccA p.P424P FOXG1_ENST00000313071.4_Silent_p.P424P P55316 FOXG1_HUMAN forkhead box G1 424 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2) 43 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCCCGCACCCGTCAATGACTT 0.657000 15 47 0 0 0.004990 0 0 FOXRED2 80020 broad.mit.edu 37 22 36900343 36900343 + Missense_Mutation SNP G G A rs142793535 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:36900343G>A ENST00000397224.4 - 4 944 c.851C>T c.(850-852)aCg>aTg p.T284M FOXRED2_ENST00000216187.6_Missense_Mutation_p.T284M|FOXRED2_ENST00000397223.4_Missense_Mutation_p.T284M NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 284 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GGCCAGATCCGTCAGGTCAGA 0.562000 24 46 0 0 0.002780 0 0 CDON 50937 broad.mit.edu 37 11 125848248 125848248 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:125848248T>A ENST00000392693.3 - 18 3434 c.3307A>T c.(3307-3309)Att>Ttt p.I1103F CDON_ENST00000531738.1_Missense_Mutation_p.I480F|CDON_ENST00000263577.7_Missense_Mutation_p.I1103F NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 1103 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) AGAGGGTCAATCTGAGGCACG 0.453000 5 20 0 0 0.001168 0 0 MED23 9439 broad.mit.edu 37 6 131917269 131917269 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:131917269G>A ENST00000403834.3 - 22 3004 c.2831C>T c.(2830-2832)gCg>gTg p.A944V MED23_ENST00000545957.1_Missense_Mutation_p.A579V|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.A938V|MED23_ENST00000354577.4_Missense_Mutation_p.A944V|MED23_ENST00000368068.3_Missense_Mutation_p.A938V|MED23_ENST00000368058.1_Missense_Mutation_p.A944V Q9ULK4 MED23_HUMAN mediator complex subunit 23 938 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CACCTGTTCCGCGAGGCCCTC 0.383000 25 70 0 0 0.003954 0 0 TMC4 147798 broad.mit.edu 37 19 54666830 54666830 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:54666830G>A ENST00000376591.4 - 9 1489 c.1358C>T c.(1357-1359)aCt>aTt p.T453I TMC4_ENST00000301187.4_Missense_Mutation_p.T447I|TMC4_ENST00000416963.1_Missense_Mutation_p.T35I NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 453 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCCCCCACAAGTGATCTGATT 0.582000 25 48 0 0 0.002780 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 53 0 0 0.000602 0 0 SYNRG 11276 broad.mit.edu 37 17 35880712 35880712 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:35880712G>A ENST00000339208.6 - 20 3846 c.3706C>T c.(3706-3708)Cgg>Tgg p.R1236W SYNRG_ENST00000502449.2_Missense_Mutation_p.R1113W|SYNRG_ENST00000591288.1_Missense_Mutation_p.R1030W|SYNRG_ENST00000585472.1_Missense_Mutation_p.R1157W|SYNRG_ENST00000346661.4_Missense_Mutation_p.R1236W|SYNRG_ENST00000345615.4_Missense_Mutation_p.R1158W|SYNRG_ENST00000394378.2_Missense_Mutation_p.R1181W NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1236 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ATCCCAGGCCGTAACATACAG 0.517000 14 52 0 0 0.004007 0 0 HHLA2 11148 broad.mit.edu 37 3 108072558 108072558 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:108072558G>A ENST00000357759.5 + 4 763 c.349G>A c.(349-351)Gga>Aga p.G117R HHLA2_ENST00000467562.1_Missense_Mutation_p.G53R|HHLA2_ENST00000491820.1_Missense_Mutation_p.G117R|HHLA2_ENST00000489514.2_Missense_Mutation_p.G117R|HHLA2_ENST00000467761.1_Missense_Mutation_p.G117R NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 117 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 TCTGGACGAAGGAATTTACAC 0.403000 15 34 0 0 0.003163 0 0 TPD52L3 89882 broad.mit.edu 37 9 6328941 6328941 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:6328941G>A ENST00000344545.5 + 1 593 c.346G>A c.(346-348)Gcc>Acc p.A116T TPD52L3_ENST00000381428.1_Missense_Mutation_p.A116T|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A116T NM_033516.5 NP_277051.3 Q96J77 TPD55_HUMAN tumor protein D52-like 3 116 protein binding large_intestine(1)|lung(9)|skin(1) 11 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) GAAGAAGTCGGCCACATTCAG 0.517000 12 74 0 0 0.000978 0 0 USP32 84669 broad.mit.edu 37 17 58329765 58329765 + Silent SNP C C T rs61751977 byFrequency TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:58329765C>T ENST00000300896.4 - 11 1307 c.1113G>A c.(1111-1113)ccG>ccA p.P371P USP32_ENST00000592339.1_Silent_p.P41P|USP32_ENST00000393003.3_Silent_p.P371P NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 371 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) CTTCTTCTTCCGGAGTAGCTG 0.328000 6 22 0 0 0.001168 0 0 ITK 3702 broad.mit.edu 37 5 156668657 156668657 + Splice_Site SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:156668657C>T ENST00000422843.3 + 11 1139 c.985_splice c.e11-1 p.G329_splice ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 329 SH2. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCAACCCAGGCCTGGTGACTC 0.448000 T SYK peripheral T-cell lymphoma 9 24 0 0 0.006214 0 0 TRAM1 23471 broad.mit.edu 37 8 71520380 71520380 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:71520380C>T ENST00000262213.2 - 1 224 c.55G>A c.(55-57)Gtc>Atc p.V19I TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Intron NM_014294.5 NP_055109.1 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 19 cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 17 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) TTCTGCAGGACGAATTCGTGG 0.662000 24 103 0 0 0.003954 0 0 PTPRU 10076 broad.mit.edu 37 1 29650167 29650167 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:29650167C>T ENST00000323874.8 + 29 4107 c.3997C>T c.(3997-3999)Cgg>Tgg p.R1333W PTPRU_ENST00000345512.3_Missense_Mutation_p.R1337W|PTPRU_ENST00000356870.3_Missense_Mutation_p.R1333W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1331W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R1324W|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1327W Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1337 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCTGCTGGTGCGGCACTTCCA 0.642000 31 26 0 0 0.001786 0 0 F8 2157 broad.mit.edu 37 X 154159320 154159320 + Silent SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:154159320T>G ENST00000360256.4 - 14 2945 c.2745A>C c.(2743-2745)gcA>gcC p.A915A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 915 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TATCAGTACCTGCTGCCAAAT 0.378000 5 82 0 0 0.001168 0 0 FOXR2 139628 broad.mit.edu 37 X 55650595 55650595 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:55650595G>A ENST00000339140.3 + 1 763 c.451G>A c.(451-453)Gac>Aac p.D151N NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 151 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TTCCCCCAGTGACTTTGAGCT 0.502000 9 54 0 0 0.004482 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27841969 27841969 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:27841969G>A ENST00000318304.8 + 26 2819 c.2536G>A c.(2536-2538)Gta>Ata p.V846I PPFIBP1_ENST00000542629.1_Missense_Mutation_p.V815I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.V693I|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.V840I NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 846 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TCGTTTTAACGTAGAAACAAT 0.378000 15 72 0 0 0.003163 0 0 TENM1 10178 broad.mit.edu 37 X 123518065 123518065 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:123518065C>G ENST00000422452.2 - 30 6779 c.6716G>C c.(6715-6717)gGc>gCc p.G2239A STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G2232A NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTGCAGCAGGCCATTAGAATT 0.463000 9 82 0 0 0.004482 0 0 MGEA5 10724 broad.mit.edu 37 10 103558656 103558656 + Nonsense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:103558656C>T ENST00000361464.3 - 9 2147 c.1752G>A c.(1750-1752)tgG>tgA p.W584* MGEA5_ENST00000357797.5_Nonsense_Mutation_p.W531*|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.W531*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.W584*|MGEA5_ENST00000482611.1_5'UTR NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 584 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TTGCTCGAAGCCATTGAAATT 0.443000 11 91 0 0 0.000978 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 3 85 0 0 0.000248 0 0 MED13L 23389 broad.mit.edu 37 12 116434432 116434432 + Missense_Mutation SNP T T C rs35760315 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:116434432T>C ENST00000281928.3 - 16 3051 c.2845A>G c.(2845-2847)Atg>Gtg p.M949V NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 949 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGAGCAAACATGGAGGATCCC 0.438000 10 41 0 0 0.001368 0 0 NECAB1 64168 broad.mit.edu 37 8 91929759 91929759 + Nonsense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:91929759A>T ENST00000417640.2 + 6 734 c.397A>T c.(397-399)Aga>Tga p.R133* NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 133 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) ATTCGTAACTAGATTTTTATT 0.403000 14 28 0 0 0.001855 0 0 HSPG2 3339 broad.mit.edu 37 1 22173889 22173889 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:22173889A>G ENST00000374695.3 - 62 8201 c.8122T>C c.(8122-8124)Tcc>Ccc p.S2708P HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2708 Ig-like C2-type 12. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ATGACGATGGAGGCCTCCAGG 0.627000 3 99 0 0 0.004672 0 0 POTEC 388468 broad.mit.edu 37 18 14537869 14537869 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:14537869G>T ENST00000358970.5 - 3 740 c.741C>A c.(739-741)gtC>gtA p.V247V POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 247 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CTTCATTGTGGACAGCATAGT 0.353000 40 82 4.34086e-07 1.09629e-06 0.005524 1 0 MPP1 4354 broad.mit.edu 37 X 154013398 154013398 + Missense_Mutation SNP C C T rs146674414 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:154013398C>T ENST00000413259.3 - 8 1014 c.622G>A c.(622-624)Gaa>Aaa p.E208K MPP1_ENST00000393531.1_Missense_Mutation_p.E218K|MPP1_ENST00000369534.3_Missense_Mutation_p.E238K|MPP1_ENST00000462825.1_5'UTR NM_001166462.1 NP_001159934.1 Q00013 EM55_HUMAN membrane protein, palmitoylated 1, 55kDa 238 SH3. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1) 21 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTCGGGGCTTCGCTAGGAGCT 0.552000 4 25 0 0 0.000602 0 0 NXF3 56000 broad.mit.edu 37 X 102337969 102337969 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:102337969C>T ENST00000395065.3 - 7 755 c.654G>A c.(652-654)caG>caA p.Q218Q NXF3_ENST00000425463.2_Silent_p.Q129Q|NXF3_ENST00000425644.1_5'UTR NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 218 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CAAGAGCTTCCTGGGAGACAT 0.498000 33 308 0 0 0.002445 0 0 RPRD2 23248 broad.mit.edu 37 1 150445676 150445676 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:150445676C>T ENST00000401000.4 + 10 4239 c.4174C>T c.(4174-4176)Cgg>Tgg p.R1392W RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.R1418W Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1418 Pro-rich. protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 ACGGAGTCCCCGGCCAGACTT 0.582000 76 47 0 0 0.003610 0 0 KSR2 283455 broad.mit.edu 37 12 118406030 118406030 + Nonsense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:118406030C>A ENST00000339824.5 - 1 758 c.31G>T c.(31-33)Gag>Tag p.E11* Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 11 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCTGCTGCTCCTCGCTTTTC 0.522000 7 110 0.00198382 0.00483739 0.001984 1 0 PLEC 5339 broad.mit.edu 37 8 145012832 145012832 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:145012832G>T ENST00000322810.4 - 2 721 c.552C>A c.(550-552)acC>acA p.T184T PLEC_ENST00000357649.2_Silent_p.T51T|PLEC_ENST00000356346.3_Silent_p.T33T|PLEC_ENST00000354958.2_Silent_p.T25T|PLEC_ENST00000354589.3_Silent_p.T47T|PLEC_ENST00000398774.2_Silent_p.T15T|PLEC_ENST00000527096.1_Silent_p.T74T|PLEC_ENST00000345136.3_Silent_p.T47T|PLEC_ENST00000436759.2_Silent_p.T74T NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 184 Actin-binding.|CH 1.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACTTGGTGAAGGTTTTCTTCT 0.637000 17 85 6.94344e-10 1.81852e-09 0.006122 1 0 EPB42 2038 broad.mit.edu 37 15 43503700 43503700 + Missense_Mutation SNP G G A rs146473183 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:43503700G>A ENST00000300215.3 - 4 1010 c.553C>T c.(553-555)Cgc>Tgc p.R185C EPB42_ENST00000540029.1_Missense_Mutation_p.R77C|EPB42_ENST00000441366.2_Missense_Mutation_p.R155C P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 155 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) TACTCCATGCGCTGAGCCTCA 0.582000 29 56 0 0 0.008361 0 0 KMT2D 8085 broad.mit.edu 37 12 49447796 49447796 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:49447796A>G ENST00000301067.7 - 5 637 c.638T>C c.(637-639)cTa>cCa p.L213P NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTCTGGGCATAGCAGCTGCAG 0.542000 18 69 0 0 0.004990 0 0 ATP1A4 480 broad.mit.edu 37 1 160141474 160141474 + Missense_Mutation SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:160141474T>C ENST00000368081.4 + 12 2252 c.1781T>C c.(1780-1782)cTc>cCc p.L594P ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 594 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTGTGGGCCTCATATCCATG 0.488000 3 192 0 0 0.000248 0 0 OR5H6 79295 broad.mit.edu 37 3 97983841 97983841 + Missense_Mutation SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:97983841T>C ENST00000383696.2 + 1 754 c.713T>C c.(712-714)cTc>cCc p.L238P RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACAATTATCCTCTTTACAATC 0.353000 4 35 0 0 0.000248 0 0 BNC1 646 broad.mit.edu 37 15 83932492 83932492 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:83932492G>A ENST00000345382.2 - 4 1596 c.1511C>T c.(1510-1512)aCg>aTg p.T504M RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.T497M NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 504 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 TATCCCAGGCGTGTTTGCTAC 0.512000 27 67 0 0 0.005443 0 0 ARMCX3 51566 broad.mit.edu 37 X 100879979 100879979 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:100879979G>A ENST00000341189.4 + 5 876 c.10G>A c.(10-12)Gcc>Acc p.A4T ARMCX3_ENST00000537169.1_Missense_Mutation_p.A4T|ARMCX3_ENST00000471229.2_Missense_Mutation_p.A4T NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 4 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 CATGGGCTACGCCAGGAAAGT 0.557000 15 80 0 0 0.004007 0 0 MKL1 57591 broad.mit.edu 37 22 40815260 40815260 + Silent SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:40815260A>G ENST00000396617.3 - 12 1772 c.1182T>C c.(1180-1182)ccT>ccC p.P394P MKL1_ENST00000407029.1_Silent_p.P394P|MKL1_ENST00000402042.1_Silent_p.P344P|MKL1_ENST00000355630.3_Silent_p.P394P Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 394 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 AGGTGGCGGCAGGGGCCTTGG 0.657000 T RBM15 acute megakaryocytic leukemia 6 16 0 0 0.001984 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432010 117432010 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:117432010C>T ENST00000160373.3 - 4 1331 c.1240G>A c.(1240-1242)Ggc>Agc p.G414S NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 414 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GGAGCTATGCCTGGTGTTTGA 0.527000 4 142 0 0 0.000248 0 0 ZMYM3 9203 broad.mit.edu 37 X 70461117 70461117 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:70461117G>A ENST00000373998.1 - 24 4541 c.3844C>T c.(3844-3846)Cgc>Tgc p.R1282C ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1294C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1296C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1204C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1294C NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1294 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) ACAGGGCAGCGGAGGGGATTC 0.507000 5 39 0 0 0.001168 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 12 0 0 0.000248 0 0 SUV39H1 6839 broad.mit.edu 37 X 48564736 48564736 + Nonsense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:48564736C>A ENST00000376687.3 + 4 1099 c.909C>A c.(907-909)taC>taA p.Y303* AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000453214.2_Missense_Mutation_p.T151K|SUV39H1_ENST00000337852.6_Nonsense_Mutation_p.Y314* NM_003173.2 NP_003164.1 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 (Drosophila) 303 Mediates interaction with MECOM (By similarity).|SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding p.Y303Y(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 ACCTGGACTACGTGGAGGACG 0.612000 13 69 6.31663e-08 1.60345e-07 0.003163 1 0 OSER1 51526 broad.mit.edu 37 20 42825851 42825851 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr20:42825851C>T ENST00000372970.2 - 6 900 c.720G>A c.(718-720)tcG>tcA p.S240S OSER1_ENST00000255174.2_Silent_p.S240S oxidative stress responsive serine-rich 1 TGGCGTGCAGCGACTGAGAGT 0.532000 8 102 0 0 0.003080 0 0 ALS2 57679 broad.mit.edu 37 2 202625656 202625656 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:202625656T>A ENST00000264276.6 - 4 1433 c.1061A>T c.(1060-1062)gAt>gTt p.D354V ALS2_ENST00000467448.1_Missense_Mutation_p.D354V NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 354 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TACTGAATGATCTGACAGTTT 0.413000 17 74 0 0 0.006122 0 0 SLMAP 7871 broad.mit.edu 37 3 57898145 57898145 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:57898145C>T ENST00000295951.3 + 18 2852 c.1635C>T c.(1633-1635)ctC>ctT p.L545L SLMAP_ENST00000442599.2_Silent_p.L30L|SLMAP_ENST00000494088.1_Silent_p.L55L|SLMAP_ENST00000295952.3_Silent_p.L545L|SLMAP_ENST00000495364.1_Silent_p.L96L|SLMAP_ENST00000428312.1_Silent_p.L562L|SLMAP_ENST00000449503.2_Silent_p.L524L|SLMAP_ENST00000416870.1_Silent_p.L55L|SLMAP_ENST00000472546.1_3'UTR Q14BN4 SLMAP_HUMAN sarcolemma associated protein 562 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CTGAGAATCTCCGGGAGGAGA 0.413000 11 56 0 0 0.008291 0 0 ZNF99 7652 broad.mit.edu 37 19 22941431 22941431 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:22941431C>A ENST00000397104.3 - 5 1006 c.1007G>T c.(1006-1008)tGt>tTt p.C336F ZNF99_ENST00000596209.1_Missense_Mutation_p.C427F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTCTTCACATTTGCAGGG 0.373000 29 65 1.75199e-13 4.63761e-13 0.007291 1 0 MAN2B1 4125 broad.mit.edu 37 19 12763060 12763060 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:12763060G>A ENST00000456935.2 - 16 1993 c.1953C>T c.(1951-1953)aaC>aaT p.N651N MAN2B1_ENST00000221363.4_Silent_p.N650N NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 651 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGTCACTTTCGTTGTCACCTA 0.602000 22 94 0 0 0.002780 0 0 FAM83H 286077 broad.mit.edu 37 8 144811234 144811234 + Missense_Mutation SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:144811234G>T ENST00000388913.3 - 4 765 c.640C>A c.(640-642)Ccc>Acc p.P214T NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 214 biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TAGTAGGTGGGGCCCGCCACA 0.627000 31 112 3.90053e-15 1.03804e-14 0.002445 1 0 KERA 11081 broad.mit.edu 37 12 91449289 91449289 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:91449289C>T ENST00000266719.3 - 2 1017 c.770G>A c.(769-771)aGa>aAa p.R257K NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 257 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 ATCAAATCCTCTTGATGGGAG 0.398000 19 63 0 0 0.007413 0 0 TMC7 79905 broad.mit.edu 37 16 19047109 19047109 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:19047109G>A ENST00000421369.3 + 7 1197 c.639G>A c.(637-639)gcG>gcA p.A213A TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Silent_p.A323A|TMC7_ENST00000569532.1_Silent_p.A323A NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 323 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GCAGCATGGCGGATCTGAAGC 0.542000 24 51 0 0 0.005443 0 0 AHR 196 broad.mit.edu 37 7 17349613 17349613 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:17349613G>C ENST00000242057.4 + 2 762 c.119G>C c.(118-120)aGa>aCa p.R40T NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 40 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) AAGCGGCATAGAGACCGACTT 0.383000 8 38 0 0 0.004482 0 0 SORCS1 114815 broad.mit.edu 37 10 108389086 108389086 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:108389086C>T ENST00000263054.6 - 19 2543 c.2536G>A c.(2536-2538)Gtc>Atc p.V846I SORCS1_ENST00000369698.1_Missense_Mutation_p.V381I|SORCS1_ENST00000344440.6_Missense_Mutation_p.V846I NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 846 PKD. integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTGAGATTGACGTAAGACACC 0.488000 8 41 0 0 0.004482 0 0 MAGI3 260425 broad.mit.edu 37 1 114215339 114215339 + Silent SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:114215339A>G ENST00000369615.1 + 18 3083 c.3021A>G c.(3019-3021)tcA>tcG p.S1007S MAGI3_ENST00000369617.4_Silent_p.S1032S|MAGI3_ENST00000369611.4_Silent_p.S1007S|MAGI3_ENST00000307546.9_Silent_p.S1007S NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1032 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTAATTTCAGTTGTAGGCA 0.448000 4 261 0 0 0.000248 0 0 PKD1L2 114780 broad.mit.edu 37 16 81134661 81134661 + RNA SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:81134661G>A ENST00000533478.1 - 0 5501 PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTATAGAGTCGCTGGTAAGCG 0.473000 12 18 0 0 0.001368 0 0 HEATR5A 25938 broad.mit.edu 37 14 31762629 31762629 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:31762629C>T ENST00000543095.2 - 36 6207 c.6023G>A c.(6022-6024)cGc>cAc p.R2008H RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1927H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R1715H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R2002H NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 2002 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AGCCTCAAGGCGGGCTTTTAG 0.378000 50 145 0 0 0.003610 0 0 LBP 3929 broad.mit.edu 37 20 36992665 36992665 + Missense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr20:36992665A>T ENST00000217407.2 + 7 850 c.689A>T c.(688-690)tAt>tTt p.Y230F NM_004139.3 NP_004130.2 P18428 LBP_HUMAN lipopolysaccharide binding protein 230 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1) 28 Myeloproliferative disorder(115;0.00878) GACATTGATTATAGCTTAGTG 0.557000 16 40 0 0 0.004990 0 0 PHF3 23469 broad.mit.edu 37 6 64422707 64422707 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:64422707G>A ENST00000262043.3 + 16 5563 c.5223G>A c.(5221-5223)gaG>gaA p.E1741E PHF3_ENST00000393387.1_Silent_p.E1741E Q92576 PHF3_HUMAN PHD finger protein 3 1741 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCTTACAGGAGGATATTTTAA 0.388000 10 41 0 0 0.006214 0 0 CCDC107 203260 broad.mit.edu 37 9 35658694 35658694 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:35658694C>G ENST00000421582.2 + 2 291 c.228C>G c.(226-228)gtC>gtG p.V76V CCDC107_ENST00000327351.2_Silent_p.V76V|CCDC107_ENST00000378407.3_Silent_p.V76V|CCDC107_ENST00000426546.2_Silent_p.V76V|CCDC107_ENST00000378406.1_Silent_p.V76V|CCDC107_ENST00000378409.3_Silent_p.V76V Q8WV48 CC107_HUMAN coiled-coil domain containing 107 76 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) CCGCGGCCGTCGCGGCTTTTG 0.731000 11 32 0 0 0.001855 0 0 MIR548M 100313772 broad.mit.edu 37 X 94318214 94318214 + RNA SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:94318214C>G ENST00000408260.1 - 0 11 NR_031667.1 tacctttgcaccaacctaata 0.313000 3 16 0 0 0.004672 0 0 RUNDC1 146923 broad.mit.edu 37 17 41142894 41142894 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:41142894C>T ENST00000361677.1 + 5 1015 c.1003C>T c.(1003-1005)Cgg>Tgg p.R335W NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 335 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GAAGAAAGTCCGGGAGACGGG 0.557000 23 77 0 0 0.003330 0 0 DCC 1630 broad.mit.edu 37 18 50929242 50929242 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:50929242G>A ENST00000442544.2 + 19 3530 c.2914G>A c.(2914-2916)Gaa>Aaa p.E972K DCC_ENST00000412726.1_Missense_Mutation_p.E800K|DCC_ENST00000581580.1_Missense_Mutation_p.E607K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 972 Fibronectin type-III 6. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GCCTCCCTTGGAAGCCAATGG 0.532000 5 151 0 0 0.000602 0 0 FBN1 2200 broad.mit.edu 37 15 48760184 48760184 + Silent SNP C C G rs143544916 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:48760184C>G ENST00000316623.5 - 38 5153 c.4698G>C c.(4696-4698)ctG>ctC p.L1566L NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1566 TB 6. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) AGGCTTTACCCAGAGAACAGC 0.453000 17 63 0 0 0.004990 0 0 SLC43A3 29015 broad.mit.edu 37 11 57175311 57175311 + Missense_Mutation SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:57175311T>G ENST00000395123.2 - 14 1734 c.1430A>C c.(1429-1431)tAt>tCt p.Y477S SLC43A3_ENST00000395124.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000529554.1_Missense_Mutation_p.Y477S|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000352187.1_Missense_Mutation_p.Y477S|SLC43A3_ENST00000533524.1_Missense_Mutation_p.Y490S NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 477 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 GCATTCCCGATATACCAGAAA 0.473000 3 69 0 0 0.004672 0 0 NECAB1 64168 broad.mit.edu 37 8 91929771 91929771 + Nonsense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:91929771A>T ENST00000417640.2 + 6 746 c.409A>T c.(409-411)Aag>Tag p.K137* NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 137 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) ATTTTTATTGAAGGAAACCCT 0.393000 16 30 0 0 0.003163 0 0 PRDM9 56979 broad.mit.edu 37 5 23522511 23522511 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:23522511C>A ENST00000296682.3 + 7 789 c.607C>A c.(607-609)Ctc>Atc p.L203I NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 203 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TGATGATTACCTCTGTAAGTG 0.438000 HNSCC(3;0.000094) 32 110 9.65963e-10 2.51659e-09 0.003271 1 0 NAA25 80018 broad.mit.edu 37 12 112506764 112506764 + Nonsense_Mutation SNP T T A rs149344901 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:112506764T>A ENST00000261745.4 - 11 1317 c.1069A>T c.(1069-1071)Aaa>Taa p.K357* NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 357 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 CCAAACTTTTTAAAATACTGG 0.353000 13 51 0 0 0.001855 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798090 55798090 + Missense_Mutation SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:55798090T>G ENST00000313555.1 + 1 196 c.196T>G c.(196-198)Tta>Gta p.L66V NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) TCTTAGCAACTTATCTTTCTT 0.348000 6 43 0 0 0.001168 0 0 KRT14 3861 broad.mit.edu 37 17 39740574 39740574 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:39740574C>A ENST00000167586.6 - 3 786 c.700G>T c.(700-702)Gac>Tac p.D234Y NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 234 Coil 1B.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) ATCTCCAGGTCAGCTCTGGCC 0.522000 6 172 0.00307968 0.00747275 0.003080 1 0 CDKN2A 1029 broad.mit.edu 37 9 21968242 21968242 + Splice_Site SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:21968242C>T ENST00000579755.1 - 3 793 c.e3-1 CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 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.?(6)|p.0(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) TCGGGGATGTCTGCAGAGGGC 0.542000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 18 24 0 0 0.007413 0 0 CTC1 80169 broad.mit.edu 37 17 8132760 8132760 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:8132760G>A ENST00000315684.8 - 19 3023 c.3016C>T c.(3016-3018)Ccc>Tcc p.P1006S NM_025099.5 NP_079375.3 Q2NKJ3 CTC1_HUMAN CTS telomere maintenance complex component 1 1006 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4) 29 TGGGGCAGGGGAATGCTAAAT 0.527000 10 61 0 0 0.006214 0 0 FBXW7 55294 broad.mit.edu 37 4 153247226 153247226 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:153247226A>G ENST00000281708.4 - 10 2805 c.1576T>C c.(1576-1578)Tgg>Cgg p.W526R FBXW7_ENST00000296555.5_Missense_Mutation_p.W408R|FBXW7_ENST00000393956.3_Missense_Mutation_p.W350R|FBXW7_ENST00000603841.1_Missense_Mutation_p.W526R|FBXW7_ENST00000603548.1_Missense_Mutation_p.W526R|FBXW7_ENST00000263981.5_Missense_Mutation_p.W446R NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 526 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.W526R(2)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCTGGATCCCACACCTTTACC 0.428000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 16 89 0 0 0.008871 0 0 BLM 641 broad.mit.edu 37 15 91346818 91346818 + Silent SNP C C T rs147148171 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:91346818C>T ENST00000355112.3 + 18 3544 c.3426C>T c.(3424-3426)gcC>gcT p.A1142A BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Intron NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1142 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GACACAATGCCGAAAGACTTT 0.373000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 21 61 0 0 0.001882 0 0 PRMT3 10196 broad.mit.edu 37 11 20409618 20409618 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:20409618G>A ENST00000331079.6 + 2 299 c.82G>A c.(82-84)Ggg>Agg p.G28R PRMT3_ENST00000437750.2_Intron NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 28 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 GTCGGACAGCGGGGACGAGGC 0.647000 5 39 0 0 0.000602 0 0 ERBB4 2066 broad.mit.edu 37 2 212488657 212488657 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:212488657G>A ENST00000342788.4 - 18 2502 c.2192C>T c.(2191-2193)aCg>aTg p.T731M ERBB4_ENST00000402597.1_Missense_Mutation_p.T721M|ERBB4_ENST00000436443.1_Missense_Mutation_p.T731M NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 731 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTTATAAACCGTTCCAAAAGC 0.363000 TSP Lung(8;0.080) 11 49 0 0 0.008291 0 0 RB1 5925 broad.mit.edu 37 13 49027134 49027134 + Silent SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr13:49027134A>T ENST00000267163.4 + 18 1839 c.1701A>T c.(1699-1701)tcA>tcT p.S567S NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 567 Domain A.|Pocket; binds T and E1A. S -> L (in RB). androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TATAGGATTCACCTTTATTTG 0.333000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 3 32 0 0 0.004672 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84690198 84690198 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:84690198C>G ENST00000286744.5 + 26 4534 c.4310C>G c.(4309-4311)tCt>tGt p.S1437C ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.S1437C NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1437 TSP type-1 8. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TCACATTGTTCTGCCACCTGT 0.517000 14 212 0 0 0.002450 0 0 INTS8 55656 broad.mit.edu 37 8 95862216 95862216 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:95862216G>C ENST00000523731.1 + 12 1537 c.1404G>C c.(1402-1404)ttG>ttC p.L468F INTS8_ENST00000447247.1_Missense_Mutation_p.L468F NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 468 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) TCATTACATTGTTGAAAGATG 0.353000 8 76 0 0 0.003080 0 0 WDR17 116966 broad.mit.edu 37 4 177081214 177081214 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:177081214G>A ENST00000393643.2 + 19 2847 c.2595G>A c.(2593-2595)gtG>gtA p.V865V WDR17_ENST00000507824.2_Silent_p.V872V|WDR17_ENST00000508596.1_Silent_p.V865V|WDR17_ENST00000280190.4_Silent_p.V889V NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 889 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTGGTGATGTGAAAAAGCTAG 0.378000 8 32 0 0 0.004482 0 0 ZPBP 11055 broad.mit.edu 37 7 50121443 50121443 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:50121443C>G ENST00000046087.2 - 3 330 c.261G>C c.(259-261)acG>acC p.T87T ZPBP_ENST00000419417.1_Silent_p.T87T NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 87 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) GCAGTTGTTGCGTTACACATA 0.343000 23 39 0 0 0.003954 0 0 NOTCH1 4851 broad.mit.edu 37 9 139396213 139396213 + Missense_Mutation SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:139396213A>T ENST00000277541.6 - 30 5700 c.5625T>A c.(5623-5625)aaT>aaA p.N1875K NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1875 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCCCGCGGACATTGACGTCCA 0.662000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 29 0 0 0.003080 0 0 EXPH5 23086 broad.mit.edu 37 11 108380962 108380962 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:108380962G>A ENST00000265843.4 - 6 5382 c.5272C>T c.(5272-5274)Ctg>Ttg p.L1758L EXPH5_ENST00000443411.1_Silent_p.L1570L|EXPH5_ENST00000525344.1_Silent_p.L1751L|EXPH5_ENST00000428840.1_Silent_p.L1682L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1758 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GCAGGCTCCAGTGGAAAAGGA 0.512000 15 77 0 0 0.003163 0 0 HTR2C 3358 broad.mit.edu 37 X 114141460 114141460 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:114141460C>T ENST00000276198.1 + 6 1587 c.859C>T c.(859-861)Cgc>Tgc p.R287C HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Missense_Mutation_p.R287C NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 287 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCAGAACGCACGCCGAAGAAA 0.493000 20 141 0 0 0.008871 0 0 DDX20 11218 broad.mit.edu 37 1 112303130 112303130 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:112303130G>A ENST00000369702.4 + 4 1220 c.600G>A c.(598-600)ttG>ttA p.L200L DDX20_ENST00000475700.1_5'UTR|DDX20_ENST00000536167.1_3'UTR NM_007204.4 NP_009135.4 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 200 Helicase ATP-binding. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTGACTACTTGAACCCAGGCA 0.313000 56 64 0 0 0.003610 0 0 ABCA13 154664 broad.mit.edu 37 7 48390266 48390266 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:48390266C>T ENST00000435803.1 + 30 10255 c.10231C>T c.(10231-10233)Cat>Tat p.H3411Y NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3411 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GATGTTTAACCATGCAGGCGC 0.512000 63 103 0 0 0.003610 0 0 VSIG4 11326 broad.mit.edu 37 X 65253341 65253341 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:65253341C>A ENST00000455586.2 - 2 513 c.387G>T c.(385-387)aaG>aaT p.K129N VSIG4_ENST00000374737.4_Missense_Mutation_p.K129N|VSIG4_ENST00000412866.2_Missense_Mutation_p.K129N NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 129 Ig-like 1. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTCAGTAATCTTATCTCTCA 0.473000 28 121 1.16021e-09 3.00682e-09 0.007291 1 0 SLX4 84464 broad.mit.edu 37 16 3646278 3646278 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:3646278C>T ENST00000294008.3 - 8 2440 c.1800G>A c.(1798-1800)ccG>ccA p.P600P NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 600 Interaction with C20orf94, ERCC4 and MSH2. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CCGAAGGCGACGGGCCCCTGG 0.731000 Direct reversal of damage 3 5 0 0 0.004672 0 0 DTX3 196403 broad.mit.edu 37 12 58000719 58000719 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:58000719G>A ENST00000548198.1 + 3 1577 c.73G>A c.(73-75)Gtg>Atg p.V25M DTX3_ENST00000337737.3_Missense_Mutation_p.V25M|DTX3_ENST00000551632.1_Missense_Mutation_p.V28M|DTX3_ENST00000548804.1_Missense_Mutation_p.V25M Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 25 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) GTCCAAGCCCGTGTGGGACTT 0.597000 99 227 0 0 0.003610 0 0 OTP 23440 broad.mit.edu 37 5 76932942 76932942 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:76932942G>A ENST00000306422.3 - 2 1289 c.151C>T c.(151-153)Cca>Tca p.P51S NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 51 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) CCCTCCACTGGGTCAGAGTTG 0.716000 8 9 0 0 0.003080 0 0 NXF5 55998 broad.mit.edu 37 X 101095787 101095787 + Silent SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:101095787G>C ENST00000537026.1 - 9 920 c.561C>G c.(559-561)gtC>gtG p.V187V NXF5_ENST00000361708.2_Silent_p.V187V|NXF5_ENST00000473265.2_Silent_p.V187V NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 187 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 TCAGGGTCTTGACTTTGGGAG 0.478000 5 44 0 0 0.001984 0 0 HMHA1 23526 broad.mit.edu 37 19 1080465 1080465 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:1080465G>A ENST00000313093.2 + 15 2062 c.1831G>A c.(1831-1833)Ggg>Agg p.G611R HMHA1_ENST00000590577.1_Missense_Mutation_p.G246R|HMHA1_ENST00000536472.1_Missense_Mutation_p.G479R|HMHA1_ENST00000539243.2_Missense_Mutation_p.G627R|HMHA1_ENST00000586866.1_Missense_Mutation_p.G615R|HMHA1_ENST00000543365.1_Missense_Mutation_p.G494R|HMHA1_ENST00000590214.1_Missense_Mutation_p.G638R NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 611 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCTCCAGCCGGGCGAGGACA 0.692000 11 57 0 0 0.001855 0 0 CLDN10 9071 broad.mit.edu 37 13 96212417 96212417 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr13:96212417C>G ENST00000376873.3 + 2 476 c.246C>G c.(244-246)atC>atG p.I82M CLDN10_ENST00000299339.2_Missense_Mutation_p.I84M|CLDN10_ENST00000376855.1_Missense_Mutation_p.I2M NM_001160100.1|NM_182848.3 NP_001153572.1|NP_878268.1 P78369 CLD10_HUMAN claudin 10 84 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity p.I82I(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GACTTATGATCGCTGCTGTCA 0.433000 5 64 0 0 0.001168 0 0 EIF2S1 1965 broad.mit.edu 37 14 67843302 67843302 + Silent SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:67843302A>C ENST00000256383.4 + 4 929 c.468A>C c.(466-468)gcA>gcC p.A156A EIF2S1_ENST00000466499.2_Silent_p.A156A NM_004094.4 NP_004085.1 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa 156 cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) TTAAGCATGCAGTCTCGTAAG 0.428000 20 71 0 0 0.008871 0 0 MYOM1 8736 broad.mit.edu 37 18 3188908 3188908 + Silent SNP T T C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:3188908T>C ENST00000356443.4 - 4 942 c.609A>G c.(607-609)acA>acG p.T203T MYOM1_ENST00000261606.7_Silent_p.T203T|MYOM1_ENST00000400569.3_Silent_p.T203T NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 203 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T203T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTTGGATGCTGTGGACTGCT 0.532000 3 95 0 0 0.000248 0 0 FANCB 2187 broad.mit.edu 37 X 14861944 14861944 + Silent SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:14861944A>C ENST00000398334.1 - 10 2592 c.2325T>G c.(2323-2325)tcT>tcG p.S775S FANCB_ENST00000324138.3_Silent_p.S775S NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 775 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TAGCTATGGCAGAAGAAAGAG 0.383000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 71 0 0 0.002450 0 0 ZNF423 23090 broad.mit.edu 37 16 49764836 49764836 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:49764836C>T ENST00000561648.1 - 3 176 c.123G>A c.(121-123)gcG>gcA p.A41A ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000562871.1_5'UTR|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000262383.2_Silent_p.A41A NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 41 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) TGTCTTCCAGCGCACGGCTGG 0.512000 39 248 0 0 0.002522 0 0 ERBB4 2066 broad.mit.edu 37 2 212568852 212568852 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:212568852G>A ENST00000342788.4 - 11 1576 c.1266C>T c.(1264-1266)acC>acT p.T422T ERBB4_ENST00000402597.1_Silent_p.T422T|ERBB4_ENST00000436443.1_Silent_p.T422T NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 422 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TTCCACCAATGGTCACCAGGT 0.393000 TSP Lung(8;0.080) 21 80 0 0 0.002780 0 0 FAT4 79633 broad.mit.edu 37 4 126241670 126241670 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:126241670C>T ENST00000394329.3 + 1 4117 c.4104C>T c.(4102-4104)aaC>aaT p.N1368N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1368 Cadherin 13. 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 TTAGCCCAAACACTGGGAGTA 0.378000 21 72 0 0 0.001523 0 0 LANCL3 347404 broad.mit.edu 37 X 37431414 37431414 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:37431414G>A ENST00000378621.3 + 1 593 c.291G>A c.(289-291)aaG>aaA p.K97K TM4SF2_ENST00000465127.1_Intron|LANCL3_ENST00000378619.3_Silent_p.K97K NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 97 catalytic activity lung(4)|pancreas(1) 5 GCTCGGCTAAGCGCCTCATCG 0.716000 4 13 0 0 0.000602 0 0 LRFN2 57497 broad.mit.edu 37 6 40399668 40399668 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr6:40399668G>A ENST00000338305.6 - 2 1727 c.1185C>T c.(1183-1185)cgC>cgT p.R395R NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 395 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) TGTCTGAGAGGCGGGACTTGG 0.667000 14 43 0 0 0.002450 0 0 TP53 7157 broad.mit.edu 37 17 7578522 7578522 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:7578522T>A ENST00000420246.2 - 5 540 c.408A>T c.(406-408)caA>caT p.Q136H TP53_ENST00000455263.2_Missense_Mutation_p.Q136H|TP53_ENST00000413465.2_Missense_Mutation_p.Q136H|TP53_ENST00000359597.4_Missense_Mutation_p.Q136H|TP53_ENST00000269305.4_Missense_Mutation_p.Q136H|TP53_ENST00000445888.2_Missense_Mutation_p.Q136H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 136 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136H(5)|p.Q136Q(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C42fs*9(1)|p.K132_A138delKMFCQLA(1)|p.L137fs*12(1)|p.S127_Q136del10(1)|p.C3fs*9(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_A138delCQLA(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) TCTTGGCCAGTTGGCAAAACA 0.557000 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) 10 44 0 0 0.006214 0 0 SNHG14 104472715 broad.mit.edu 37 15 25444536 25444536 + RNA SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:25444536G>A ENST00000424208.1 + 0 1809 SNHG14_ENST00000424333.1_RNA NR_003305.1 ACACTGAGCTGAGGTGAGCAC 0.587000 20 145 0 0 0.007413 0 0 SELP 6403 broad.mit.edu 37 1 169580906 169580906 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:169580906C>T ENST00000263686.6 - 7 1008 c.971G>A c.(970-972)tGt>tAt p.C324Y SELP_ENST00000458599.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C262Y|SELP_ENST00000367792.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C262Y NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 324 Sushi 3. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGGTGCTGACACTGCACAGC 0.507000 54 61 0 0 0.003610 0 0 SHC3 53358 broad.mit.edu 37 9 91657049 91657049 + Missense_Mutation SNP T T C rs67020691 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:91657049T>C ENST00000375835.4 - 10 1558 c.1252A>G c.(1252-1254)Acg>Gcg p.T418A SHC3_ENST00000375831.1_5'UTR|SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 418 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 GCTTCTCCCGTGGGGGCCACG 0.572000 35 102 0 0 0.004289 0 0 PEX11B 8799 broad.mit.edu 37 1 145522726 145522726 + Missense_Mutation SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:145522726T>G ENST00000369306.3 + 4 736 c.587T>G c.(586-588)cTc>cGc p.L196R PEX11B_ENST00000537888.1_Missense_Mutation_p.L182R NM_003846.2 NP_003837.1 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 196 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAAGTCCTGCTCCTGGCTCGA 0.582000 3 92 0 0 0.000248 0 0 TTC39B 158219 broad.mit.edu 37 9 15199906 15199906 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:15199906G>A ENST00000355694.2 - 8 813 c.579C>T c.(577-579)aaC>aaT p.N193N TTC39B_ENST00000512701.1_Silent_p.N259N|TTC39B_ENST00000507993.1_Silent_p.N94N|TTC39B_ENST00000541445.1_Intron|TTC39B_ENST00000507285.1_Silent_p.N94N|TTC39B_ENST00000380850.4_Silent_p.N259N|TTC39B_ENST00000297615.5_Silent_p.N190N NM_001168339.1|NM_152574.2 NP_001161811.1|NP_689787.2 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 193 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 CTTTGATGAAGTTGATCATAT 0.274000 4 22 0 0 0.000248 0 0 HYDIN 54768 broad.mit.edu 37 16 71163606 71163606 + Missense_Mutation SNP C C G rs929312 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:71163606C>G ENST00000393567.2 - 9 1314 c.1164G>C c.(1162-1164)caG>caC p.Q388H HYDIN_ENST00000393550.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q388H|HYDIN_ENST00000448089.2_Missense_Mutation_p.Q388H|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q415H|HYDIN_ENST00000288168.10_Missense_Mutation_p.Q405H|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q405H|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q388H NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 388 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCAGCCTCCTCTGATTCGCAA 0.448000 5 40 0 0 0.001168 0 0 ZBTB10 65986 broad.mit.edu 37 8 81400004 81400004 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:81400004A>G ENST00000430430.1 + 2 1738 c.959A>G c.(958-960)gAa>gGa p.E320G ZBTB10_ENST00000426744.2_Missense_Mutation_p.E320G|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Missense_Mutation_p.E320G NM_001277145.1 NP_001264074.1 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 320 transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4) 20 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) AAACTCCACGAAGCCAACGCC 0.537000 6 102 0 0 0.001984 0 0 MSX1 4487 broad.mit.edu 37 4 4864759 4864759 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:4864759G>T ENST00000382723.4 + 2 1035 c.801G>T c.(799-801)gcG>gcT p.A267A NM_002448.3 NP_002439.2 P28360 MSX1_HUMAN msh homeobox 1 261 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 11 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CGGCCGCGGCGGGTGCCTCGC 0.706000 6 18 5.9392e-07 1.4848e-06 0.001168 1 0 LOC220729 220729 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 5 69 0 0 0.001168 0 0 KLHL14 57565 broad.mit.edu 37 18 30350279 30350279 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:30350279C>T ENST00000359358.4 - 2 714 c.276G>A c.(274-276)ccG>ccA p.P92P KLHL14_ENST00000358095.4_Silent_p.P92P|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 92 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 gctgctgtgacggctgctgct 0.726000 8 27 0 0 0.003080 0 0 ACSM5 54988 broad.mit.edu 37 16 20439133 20439133 + Silent SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr16:20439133C>A ENST00000331849.4 + 7 1092 c.945C>A c.(943-945)acC>acA p.T315T NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 315 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 TCCCGATAACCACCCTCTGCT 0.478000 58 152 6.12789e-21 1.64854e-20 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179472661 179472661 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:179472661C>T ENST00000589042.1 - 276 53077 c.52853G>A c.(52852-52854)cGc>cAc p.R17618H TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R15977H|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8745H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8553H|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15050H|TTN_ENST00000359218.5_Missense_Mutation_p.R8678H|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15977 Fibronectin type-III 27. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTGTGCAGCGTGACCATTC 0.478000 34 103 0 0 0.003755 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 4 70 0 0 0.001168 0 0 TAF4B 6875 broad.mit.edu 37 18 23845146 23845146 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:23845146T>A ENST00000269142.5 + 2 1354 c.356T>A c.(355-357)aTt>aAt p.I119N TAF4B_ENST00000400466.2_Missense_Mutation_p.I119N|TAF4B_ENST00000578121.1_Missense_Mutation_p.I119N NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa 119 transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) ACCGTTTTGATTAAAAGTAAC 0.393000 15 116 0 0 0.004990 0 0 PGRMC1 10857 broad.mit.edu 37 X 118370576 118370576 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:118370576G>A ENST00000217971.7 + 1 361 c.250G>A c.(250-252)Gtc>Atc p.V84I PGRMC1_ENST00000535419.1_Missense_Mutation_p.V84I NM_006667.3 NP_006658.1 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 84 Cytochrome b5 heme-binding. cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding lung(6) 6 CTTCGACGGCGTCCAGGACCC 0.721000 4 30 0 0 0.000248 0 0 KANSL1 284058 broad.mit.edu 37 17 44110824 44110824 + Nonsense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:44110824C>T ENST00000262419.6 - 12 3139 c.2669G>A c.(2668-2670)tGg>tAg p.W890* KANSL1_ENST00000572904.1_Nonsense_Mutation_p.W890*|KANSL1_ENST00000574590.1_Nonsense_Mutation_p.W890*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.W890*|KANSL1_ENST00000393476.3_Nonsense_Mutation_p.W184*|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.W826* NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 890 MLL1 complex protein binding AACCTCCCGCCAGCTGCAAAA 0.498000 4 36 0 0 0.001168 0 0 CYP11B2 1585 broad.mit.edu 37 8 143999224 143999224 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr8:143999224C>T ENST00000323110.2 - 1 35 c.33G>A c.(31-33)gtG>gtA p.V11V NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 11 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGGGCGCTGCCACGCACACCT 0.617000 Familial Hyperaldosteronism type I 41 180 0 0 0.002222 0 0 GFPT2 9945 broad.mit.edu 37 5 179740899 179740899 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr5:179740899C>T ENST00000253778.8 - 14 1508 c.1339G>A c.(1339-1341)Gtc>Atc p.V447I NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 447 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) GTGTTGGTGACGCCCACGGTG 0.706000 4 14 0 0 0.000248 0 0 ZIM3 114026 broad.mit.edu 37 19 57648260 57648260 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:57648260C>T ENST00000269834.1 - 4 607 c.222G>A c.(220-222)gtG>gtA p.V74V NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACTTCCCAGCACTTCCTCTT 0.517000 13 81 0 0 0.002450 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255111 15255111 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:15255111C>T ENST00000378116.4 - 8 2482 c.2476G>A c.(2476-2478)Ggc>Agc p.G826S NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 826 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGCAGCTGGCCACCACTTCTC 0.647000 14 68 0 0 0.001855 0 0 CLASRP 11129 broad.mit.edu 37 19 45556084 45556084 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:45556084A>G ENST00000544944.2 + 3 925 c.233A>G c.(232-234)gAc>gGc p.D78G CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Missense_Mutation_p.D78G Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 78 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 AACATGATTGACCGATTCGAT 0.602000 17 43 0 0 0.007413 0 0 C10orf12 26148 broad.mit.edu 37 10 98744511 98744511 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:98744511C>T ENST00000286067.2 + 1 3471 c.3364C>T c.(3364-3366)Cct>Tct p.P1122S NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1122 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CACCAAAACCCCTGCTGCCAA 0.517000 10 62 0 0 0.006214 0 0 SYTL1 84958 broad.mit.edu 37 1 27676942 27676942 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:27676942G>A ENST00000543823.1 + 9 1433 c.971G>A c.(970-972)cGg>cAg p.R324Q SYTL1_ENST00000318074.5_Missense_Mutation_p.R312Q|SYTL1_ENST00000490170.1_3'UTR Q8IYJ3 SYTL1_HUMAN synaptotagmin-like 1 324 C2 1. exocytosis|intracellular protein transport extrinsic to plasma membrane|melanosome|soluble fraction neurexin binding|Rab GTPase binding p.R312Q(1) NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1) 12 Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GTGAAGAAACGGAATCTGAAT 0.602000 42 56 0 0 0.003610 0 0 PPFIA2 8499 broad.mit.edu 37 12 81675072 81675072 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:81675072A>G ENST00000550584.2 - 26 3471 c.3176T>C c.(3175-3177)cTc>cCc p.L1059P PPFIA2_ENST00000407050.4_Missense_Mutation_p.L958P|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.L954P|PPFIA2_ENST00000549396.1_Missense_Mutation_p.L1059P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.L1044P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.L1038P|PPFIA2_ENST00000541570.2_Missense_Mutation_p.L595P|PPFIA2_ENST00000541017.1_Missense_Mutation_p.L245P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.L1053P|PPFIA2_ENST00000550359.2_Missense_Mutation_p.L906P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.L1044P NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 958 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ATGGACACGGAGATCTTTTTT 0.343000 4 26 0 0 0.000248 0 0 ACO1 48 broad.mit.edu 37 9 32407405 32407405 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr9:32407405C>T ENST00000379923.1 + 4 450 c.244C>T c.(244-246)Cgt>Tgt p.R82C ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Missense_Mutation_p.R82C NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 82 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TAAGCCTGCTCGTGTCATCCT 0.388000 9 44 0 0 0.001855 0 0 MADD 8567 broad.mit.edu 37 11 47298327 47298327 + Silent SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:47298327G>C ENST00000342922.4 + 5 1365 c.1008G>C c.(1006-1008)gtG>gtC p.V336V MADD_ENST00000402799.1_Silent_p.V336V|MADD_ENST00000407859.3_Silent_p.V336V|MADD_ENST00000349238.3_Silent_p.V336V|MADD_ENST00000406482.1_Silent_p.V336V|MADD_ENST00000311027.5_Silent_p.V336V|MADD_ENST00000402192.2_Silent_p.V336V|MADD_ENST00000395344.3_Silent_p.V336V|MADD_ENST00000395336.3_Silent_p.V336V|MADD_ENST00000489415.1_3'UTR NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 336 DENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CCATGTCTGTGATGGCATTCG 0.483000 12 87 0 0 0.001855 0 0 NCOR2 9612 broad.mit.edu 37 12 124862849 124862849 + Nonsense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:124862849C>A ENST00000356219.3 - 19 2256 c.2101G>T c.(2101-2103)Gag>Tag p.E701* NCOR2_ENST00000429285.2_Nonsense_Mutation_p.E700*|NCOR2_ENST00000405201.1_Nonsense_Mutation_p.E701*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.E700*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.E271*|NCOR2_ENST00000397355.1_Nonsense_Mutation_p.E701* NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 701 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TCCTCATCCTCCACCACGGGC 0.667000 14 53 4.3838e-07 1.10151e-06 0.001855 1 0 MACC1 346389 broad.mit.edu 37 7 20199733 20199733 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:20199733A>G ENST00000400331.5 - 5 559 c.251T>C c.(250-252)cTa>cCa p.L84P MACC1_ENST00000332878.4_Missense_Mutation_p.L84P|MACC1_ENST00000589011.1_Missense_Mutation_p.L84P NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 84 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GTTATTTCTTAGTTGAGTTAT 0.348000 16 37 0 0 0.004007 0 0 RPL10L 140801 broad.mit.edu 37 14 47120482 47120482 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:47120482C>T ENST00000298283.3 - 1 546 c.458G>A c.(457-459)cGc>cAc p.R153H NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 153 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CTTGGCCCTGCGCAAGGCTTC 0.517000 12 76 0 0 0.001368 0 0 SPAG16 79582 broad.mit.edu 37 2 214149438 214149438 + Missense_Mutation SNP T T G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:214149438T>G ENST00000413312.1 + 1 299 c.53T>G c.(52-54)cTt>cGt p.L18R SPAG16_ENST00000331683.5_Intron|SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000432529.2_Intron Q8N0X2 SPG16_HUMAN sperm associated antigen 16 49 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CTTTTGAGCCTTGGGGCCACT 0.617000 2 0 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9085508 9085508 + Nonsense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:9085508G>A ENST00000397910.4 - 1 6510 c.6307C>T c.(6307-6309)Caa>Taa p.Q2103* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2103 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGATTTCTTTGCTTAGCAGCA 0.488000 24 218 0 0 0.002299 0 0 PIPSL 266971 broad.mit.edu 37 10 95720289 95720289 + RNA SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:95720289T>A ENST00000480546.1 - 0 1008 NR_002319.2 TGTGTTTCGCTGCTTAAGGGC 0.493000 8 46 0 0 0.006214 0 0 IL17REL 400935 broad.mit.edu 37 22 50439548 50439548 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:50439548C>T ENST00000389983.2 - 4 336 c.72G>A c.(70-72)gcG>gcA p.A24A IL17REL_ENST00000341280.5_Silent_p.A24A NM_001001694.2 NP_001001694.2 Q6ZVW7 I17EL_HUMAN interleukin 17 receptor E-like 24 endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCAGGAGCATCGCGCAGCCGT 0.662000 6 11 0 0 0.001984 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 44 0 0 0.004672 0 0 PTPRF 5792 broad.mit.edu 37 1 44085815 44085815 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:44085815G>A ENST00000359947.4 + 30 5501 c.5161G>A c.(5161-5163)Gag>Aag p.E1721K PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1721 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.E1711Q(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGAGAGCACCGAGGACTTCTG 0.592000 70 60 0 0 0.003610 0 0 PSD4 23550 broad.mit.edu 37 2 113949982 113949982 + Missense_Mutation SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:113949982T>A ENST00000245796.6 + 6 1849 c.1654T>A c.(1654-1656)Tct>Act p.S552T PSD4_ENST00000441564.2_Missense_Mutation_p.S524T NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 552 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACCGATGAACTCTTCTTGGCT 0.547000 84 146 0 0 0.003610 0 0 PRH2 5555 broad.mit.edu 37 12 11082884 11082884 + Silent SNP C C T rs1130408 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:11082884C>T ENST00000396400.3 + 2 119 c.81C>T c.(79-81)gaC>gaT p.D27D PRR4_ENST00000536668.1_Intron|PRH2_ENST00000381847.3_Silent_p.D27D NM_001110213.1 NP_001103683.1 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 2 27 Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium. extracellular space protein binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 13 GCCAAGAAGACGTTCCCTTGG 0.388000 13 76 0 0 0.001855 0 0 ERCC6L 54821 broad.mit.edu 37 X 71425660 71425660 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chrX:71425660G>C ENST00000373657.1 - 3 3190 c.2588C>G c.(2587-2589)cCt>cGt p.P863R PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.P986R Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 986 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TCTGGAATTAGGTGCAGAGCC 0.393000 30 59 0 0 0.002096 0 0 MS4A2 2206 broad.mit.edu 37 11 59863040 59863040 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:59863040G>A ENST00000278888.3 + 7 748 c.646G>A c.(646-648)Gat>Aat p.D216N NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 216 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) GGTTCCAGAGGATCGTGTTTA 0.388000 6 31 0 0 0.001168 0 0 PRKD1 5587 broad.mit.edu 37 14 30046528 30046528 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:30046528G>T ENST00000331968.5 - 18 2884 c.2655C>A c.(2653-2655)atC>atA p.I885I PRKD1_ENST00000415220.2_Silent_p.I893I NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 885 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CACTTGGATTGATCAGGTGTG 0.517000 36 104 1.36161e-19 3.64324e-19 0.004289 1 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 56 0 0 0.004672 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701285 195701285 + RNA SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:195701285G>T ENST00000427841.1 - 0 1539 NR_003264.2 GCACGACTCTGCGATGCTCAG 0.537000 11 46 0.000978159 0.0024089 0.000978 1 0 SPPL2A 84888 broad.mit.edu 37 15 51031995 51031995 + Silent SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:51031995A>G ENST00000261854.5 - 6 889 c.615T>C c.(613-615)gaT>gaC p.D205D NM_032802.3 NP_116191.2 Q8TCT8 PSL2_HUMAN signal peptide peptidase like 2A 205 integral to membrane aspartic-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) TCATTTCTCTATCTTCAGTTG 0.318000 14 54 0 0 0.004007 0 0 OR5H14 403273 broad.mit.edu 37 3 97868899 97868899 + Missense_Mutation SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:97868899A>C ENST00000437310.1 + 1 730 c.670A>C c.(670-672)Aca>Cca p.T224P NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGTCCTCTATACAATCTTGAA 0.358000 3 38 0 0 0.000248 0 0 POTEG 404785 broad.mit.edu 37 14 19566010 19566010 + Splice_Site SNP A A T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:19566010A>T ENST00000409832.3 + 6 1107 c.e6-1 CTD-2311B13.5_ENST00000548748.1_lincRNA NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TTTTATACATAGAATTTGCCA 0.259000 7 78 0 0 0.004482 0 0 FAT1 2195 broad.mit.edu 37 4 187628208 187628208 + Missense_Mutation SNP G G C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:187628208G>C ENST00000441802.2 - 2 2983 c.2774C>G c.(2773-2775)cCt>cGt p.P925R NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 925 Cadherin 7. 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 AATAAATGTAGGTGGGTTGTC 0.458000 HNSCC(5;0.00058) 38 249 0 0 0.006999 0 0 ATP12A 479 broad.mit.edu 37 13 25275010 25275010 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr13:25275010C>T ENST00000218548.6 + 13 2182 c.1849C>T c.(1849-1851)Cgg>Tgg p.R617W ATP12A_ENST00000381946.3_Missense_Mutation_p.R611W NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 611 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CGATCCCCCTCGGTCCACCGT 0.483000 10 48 0 0 0.008291 0 0 ASB18 401036 broad.mit.edu 37 2 237172797 237172797 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:237172797G>A ENST00000409749.3 - 1 191 c.192C>T c.(190-192)acC>acT p.T64T AC079135.1_ENST00000415226.1_RNA NM_212556.2 NP_997721.2 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 64 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) GCAGCATGCCGGTGGGCAGCT 0.527000 4 33 0 0 0.000602 0 0 METTL13 51603 broad.mit.edu 37 1 171753042 171753042 + Missense_Mutation SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:171753042A>C ENST00000361735.3 + 2 582 c.316A>C c.(316-318)Acg>Ccg p.T106P METTL13_ENST00000367737.5_Missense_Mutation_p.T106P|METTL13_ENST00000458517.1_Missense_Mutation_p.T105P|METTL13_ENST00000362019.3_Missense_Mutation_p.T20P NM_015935.4 NP_057019.3 Q8N6R0 MTL13_HUMAN methyltransferase like 13 106 methyltransferase activity|protein binding breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3) 41 GATGGACATGACGCAGATGGA 0.502000 42 32 0 0 0.007835 0 0 NTNG1 22854 broad.mit.edu 37 1 107691215 107691215 + Translation_Start_Site SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr1:107691215G>A ENST00000370067.1 + 0 627 NTNG1_ENST00000370068.1_De_novo_Start_InFrame|NTNG1_ENST00000370072.3_De_novo_Start_InFrame|NTNG1_ENST00000370073.2_De_novo_Start_InFrame|NTNG1_ENST00000370074.4_De_novo_Start_InFrame|NTNG1_ENST00000542803.1_De_novo_Start_InFrame|NTNG1_ENST00000370070.2_De_novo_Start_InFrame|NTNG1_ENST00000370061.3_De_novo_Start_InFrame|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_De_novo_Start_InFrame Q9Y2I2 NTNG1_HUMAN netrin G1 axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) AGAATTTAGAGATGTATTTGT 0.383000 41 45 0 0 0.007835 0 0 SOCS4 122809 broad.mit.edu 37 14 55509833 55509833 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:55509833A>G ENST00000395472.2 + 2 406 c.74A>G c.(73-75)gAc>gGc p.D25G SOCS4_ENST00000555846.1_Missense_Mutation_p.D25G|SOCS4_ENST00000339298.2_Missense_Mutation_p.D25G NM_080867.2|NM_199421.1 NP_543143.1|NP_955453.1 Q8WXH5 SOCS4_HUMAN suppressor of cytokine signaling 4 25 intracellular signal transduction|negative regulation of signal transduction|regulation of growth central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 14 AGAAGTGCCGACAGAAAAGAC 0.363000 13 57 0 0 0.001855 0 0 ZBTB1 22890 broad.mit.edu 37 14 64989074 64989074 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:64989074C>T ENST00000358738.3 + 2 1243 c.852C>T c.(850-852)taC>taT p.Y284Y RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Silent_p.Y284Y|ZBTB1_ENST00000394712.2_Silent_p.Y284Y NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 284 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CGGACAAATACAGAGGAGACA 0.398000 11 44 0 0 0.000978 0 0 C10orf12 26148 broad.mit.edu 37 10 98743187 98743187 + Silent SNP T T A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:98743187T>A ENST00000286067.2 + 1 2147 c.2040T>A c.(2038-2040)gcT>gcA p.A680A NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 680 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGGAGGAGGCTGTGAATGAGG 0.498000 12 58 0 0 0.001368 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 5 201 0 0 0.001168 0 0 SV2B 9899 broad.mit.edu 37 15 91769696 91769696 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr15:91769696C>T ENST00000394232.1 + 2 673 c.203C>T c.(202-204)cCc>cTc p.P68L SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.P68L|SV2B_ENST00000557291.1_Intron NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 68 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) AAGATGGCGCCCTCCAGAATG 0.577000 18 44 0 0 0.004990 0 0 HGS 9146 broad.mit.edu 37 17 79658578 79658578 + Silent SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:79658578G>A ENST00000329138.4 + 8 774 c.639G>A c.(637-639)gaG>gaA p.E213E NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 213 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) GCGTGTGTGAGCCCTGCTACG 0.602000 34 91 0 0 0.004878 0 0 DOK6 220164 broad.mit.edu 37 18 67425109 67425109 + Splice_Site SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr18:67425109G>T ENST00000382713.5 + 7 1046 c.856_splice c.e7+1 p.G286_splice NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 286 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) CAGTTTGCAAGGCAAGTCACT 0.438000 5 46 0.00116845 0.00286327 0.001168 1 0 FAM160B1 57700 broad.mit.edu 37 10 116593011 116593011 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr10:116593011C>T ENST00000369248.4 + 3 479 c.144C>T c.(142-144)acC>acT p.T48T FAM160B1_ENST00000369250.3_Silent_p.T48T|FAM160B1_ENST00000369246.1_Silent_p.T48T NM_020940.3 NP_065991.3 Q5W0V3 F16B1_HUMAN family with sequence similarity 160, member B1 48 NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13) 25 CCCCAGTGACCGATACAAATA 0.338000 5 45 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179639678 179639678 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:179639678C>T ENST00000589042.1 - 29 6984 c.6760G>A c.(6760-6762)Gtc>Atc p.V2254I TTN_ENST00000360870.5_Missense_Mutation_p.V2254I|TTN_ENST00000591111.1_Missense_Mutation_p.V2254I|TTN_ENST00000342175.6_Missense_Mutation_p.V2208I|TTN_ENST00000460472.2_Missense_Mutation_p.V2208I|TTN_ENST00000342992.6_Missense_Mutation_p.V2254I|TTN_ENST00000359218.5_Missense_Mutation_p.V2208I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1977 Ig-like 11. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTCGTTTTGACATTTTCATCT 0.393000 9 38 0 0 0.006214 0 0 CALCOCO1 57658 broad.mit.edu 37 12 54110137 54110137 + Silent SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr12:54110137C>T ENST00000548263.1 - 8 960 c.912G>A c.(910-912)aaG>aaA p.K304K CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000262059.4_Silent_p.K304K|CALCOCO1_ENST00000550804.1_Silent_p.K304K Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 304 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 CTTGCCAGCTCTTCGCCTCCT 0.562000 26 68 0 0 0.007291 0 0 ZNF14 7561 broad.mit.edu 37 19 19822565 19822565 + Missense_Mutation SNP C C T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:19822565C>T ENST00000344099.3 - 4 1663 c.1525G>A c.(1525-1527)Ggt>Agt p.G509S NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) AAGGTTTTACCGCATAGTTTA 0.393000 18 122 0 0 0.004990 0 0 AIMP1 9255 broad.mit.edu 37 4 107252981 107252981 + Missense_Mutation SNP G G A rs148281523 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:107252981G>A ENST00000394701.4 + 5 657 c.616G>A c.(616-618)Gga>Aga p.G206R AIMP1_ENST00000358008.3_Missense_Mutation_p.G182R|AIMP1_ENST00000442366.1_Missense_Mutation_p.G182R NM_001142416.1 NP_001135888.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 182 tRNA-binding. angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 AGTAGATGTCGGAGAAATAGC 0.428000 27 189 0 0 0.007291 0 0 ZNF101 94039 broad.mit.edu 37 19 19790618 19790618 + Silent SNP A A C TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:19790618A>C ENST00000592502.1 + 4 930 c.820A>C c.(820-822)Aga>Cga p.R274R ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.R154R Q8IZC7 ZN101_HUMAN zinc finger protein 101 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1) 17 ACATGAAATCAGATCTCACGC 0.423000 4 35 0 0 0.000248 0 0 CASP8 841 broad.mit.edu 37 2 202131228 202131228 + Missense_Mutation SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr2:202131228C>G ENST00000358485.4 + 2 392 c.196C>G c.(196-198)Ctt>Gtt p.L66V CASP8_ENST00000432109.2_Missense_Mutation_p.L7V|CASP8_ENST00000392259.2_Missense_Mutation_p.L7V|CASP8_ENST00000323492.7_Missense_Mutation_p.L7V|CASP8_ENST00000264275.5_Missense_Mutation_p.L7V|CASP8_ENST00000264274.9_Missense_Mutation_p.L7V|CASP8_ENST00000392266.3_Missense_Mutation_p.L7V|CASP8_ENST00000392258.3_Missense_Mutation_p.L7V NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 7 DED 1. 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 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 CAGCAGAAATCTTTATGATAT 0.408000 HNSCC(4;0.00038) 16 43 0 0 0.006122 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410852 105410852 + Missense_Mutation SNP G G A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr14:105410852G>A ENST00000333244.5 - 7 11055 c.10936C>T c.(10936-10938)Ccg>Tcg p.P3646S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3646 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTGAATGACGGCATCTTGAAT 0.592000 6 375 0 0 0.001168 0 0 CBX7 23492 broad.mit.edu 37 22 39529912 39529912 + Missense_Mutation SNP C C A TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:39529912C>A ENST00000216133.5 - 6 945 c.740G>T c.(739-741)cGc>cTc p.R247L CBX7_ENST00000401405.3_Missense_Mutation_p.R154L|CBX7_ENST00000475962.1_Intron NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 247 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) CTTCCCACTGCGGTCTCGGAA 0.577000 12 74 9.31168e-06 2.31622e-05 0.001855 1 0 ZMYND15 84225 broad.mit.edu 37 17 4647997 4647997 + Silent SNP C C G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:4647997C>G ENST00000433935.1 + 11 1818 c.1761C>G c.(1759-1761)ggC>ggG p.G587G ZMYND15_ENST00000269289.6_Silent_p.G548G|ZMYND15_ENST00000592813.1_Silent_p.G548G|ZMYND15_ENST00000573751.2_Silent_p.G587G NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 548 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 AGAAAGGGGGCCGCAGGGACC 0.622000 7 69 0 0 0.001984 0 0 LMF2 91289 broad.mit.edu 37 22 50943500 50943500 + Missense_Mutation SNP A A G TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:50943500A>G ENST00000216080.5 - 9 1333 c.1165T>C c.(1165-1167)Ttc>Ctc p.F389L LMF2_ENST00000474879.2_Missense_Mutation_p.F414L|LMF2_ENST00000380796.3_Intron Q9BU23 LMF2_HUMAN lipase maturation factor 2 414 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTAATCAGGAACAAGGCCACG 0.647000 12 41 0 0 0.000978 0 0 RDH8 50700 broad.mit.edu 37 19 10129435 10129435 + Silent SNP G G T TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr19:10129435G>T ENST00000591589.1 + 3 540 c.351G>T c.(349-351)ggG>ggT p.G117G RDH8_ENST00000171214.1_Silent_p.G97G Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 97 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GCCTGGTGGGGCCCCTGGAGG 0.507000 23 138 1.10513e-12 2.90979e-12 0.002299 1 0 ZNF654 55279 broad.mit.edu 37 3 88188748 88188750 + In_Frame_Del DEL TAC TAC - TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr3:88188748_88188750delTAC ENST00000309495.5 + 1 495_497 c.288_290delTAC c.(286-291)ctt>ct p.LT96del CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 96 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) TGGAGACACTTACTGCTTCTAGT 0.355 12 32 --- --- --- --- DOK7 285489 broad.mit.edu 37 4 3494760 3494783 + In_Frame_Del DEL CAGCAGCCTCTCGTCCTACGCGGG CAGCAGCCTCTCGTCCTACGCGGG - TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:3494760_3494783delCAGCAGCCTCTCGTCCTACGCGGG ENST00000340083.5 + 7 1112_1135 c.1047_1070delCAGCAGCCTCTCGTCCTACGCGGG c.(1045-1071)tcc>tc p.SSSLSSYAG349del DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_In_Frame_Del_p.SSSLSSYAG349del|DOK7_ENST00000512714.1_3'UTR NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 349 Ser-rich. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding p.A356V(1) kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTG 0.714 3 5 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153259045 153259046 + Frame_Shift_Ins INS - - TGAGT TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr4:153259045_153259046insTGAGT ENST00000281708.4 - 5 1998_1999 c.769_770insACTCA c.(769-771)tgafs p.*257fs FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.*177fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.*139fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.*81fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.*257fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.*257fs|RP11-461L13.2_ENST00000605147.1_RNA NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 257 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACAACTATCAATGAGTTCATCT 0.356 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 14 38 --- --- --- --- TRGC1 6966 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 8 168 --- --- --- --- ITGB3 3690 broad.mit.edu 37 17 45361893 45361893 + Frame_Shift_Del DEL C C - TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr17:45361893delC ENST00000559488.1 + 4 462 c.446delC c.(445-447)tcfs p.S149fs ITGB3_ENST00000435993.2_Frame_Shift_Del_p.S102fs|ITGB3_ENST00000560629.1_Frame_Shift_Del_p.L137fs|ITGB3_ENST00000571680.1_Frame_Shift_Del_p.S149fs NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 149 VWFA. activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) CTGTCTTACTCCATGAAGGAT 0.512 29 62 --- --- --- --- CRYBB2P1 1416 broad.mit.edu 37 22 25855683 25855684 + RNA DEL GT GT - rs61433517 TCGA-CR-7379-01A-11D-2012-08 TCGA-CR-7379-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8cc45c01-a363-4151-9ea0-32c404b79da4 fccf77bc-8678-467a-bef2-24001108bacf g.chr22:25855683_25855684delGT ENST00000354451.2 + 0 366 CTGGCAGCTGgtgtgtgtgtgt 0.525 2 4 --- --- --- ---