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 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 58 0 0 0.004672 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 42 0 0 0.009096 0 0 SF3B1 23451 broad.mit.edu 37 2 198267739 198267739 + Silent SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:198267739C>T ENST00000335508.5 - 13 1831 c.1740G>A c.(1738-1740)ccG>ccA p.P580P NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 580 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CAATCAATAGCGGTTCAATGA 0.333000 Mis myelodysplastic syndrome 30 39 0 0 0.013726 0 0 IRX6 79190 broad.mit.edu 37 16 55363122 55363122 + Missense_Mutation SNP G G T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:55363122G>T ENST00000290552.7 + 5 2564 c.1232G>T c.(1231-1233)gGa>gTa p.G411V RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 411 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 AAAGCCTTTGGAAACCCCAAG 0.622000 49 80 6.03219e-31 2.49107e-30 0.014410 1 0 BBX 56987 broad.mit.edu 37 3 107491592 107491592 + Missense_Mutation SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:107491592A>G ENST00000415149.2 + 11 1351 c.1024A>G c.(1024-1026)Atg>Gtg p.M342V BBX_ENST00000325805.8_Missense_Mutation_p.M342V|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.M342V NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGAAATTAAAATGGAGAAAAC 0.323000 82 101 0 0 0.014410 0 0 TRIML1 339976 broad.mit.edu 37 4 189061023 189061023 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr4:189061023C>T ENST00000332517.3 + 1 451 c.311C>T c.(310-312)gCg>gTg p.A104V NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 104 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ACTGCCAAGGCGCTCTCCGAT 0.642000 18 33 0 0 0.006122 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 63 0 0 0.001168 0 0 WAC 51322 broad.mit.edu 37 10 28822945 28822945 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:28822945G>A ENST00000354911.4 + 2 221 c.60G>A c.(58-60)ggG>ggA p.G20G WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000375664.3_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G NM_016628.4 NP_057712.2 Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 20 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 ACCGGAGGGGGGACTCGCAGC 0.677000 4 89 0 0 0.000602 0 0 KLK5 25818 broad.mit.edu 37 19 51453323 51453323 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:51453323G>A ENST00000336334.3 - 3 475 c.123C>T c.(121-123)acC>acT p.T41T KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T NM_012427.4 NP_036559.1 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 41 Missing (in Ref. 3; AAG33358). epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) CAGAGGGCACGGTGTTAGAGG 0.622000 17 20 0 0 0.010504 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 68 0 0 0.001168 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 59 0 0 0.009096 0 0 WNT7A 7476 broad.mit.edu 37 3 13896275 13896275 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:13896275G>A ENST00000285018.4 - 3 628 c.324C>T c.(322-324)taC>taT p.Y108Y NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 108 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CAATGATGGCGTAGGTGAACG 0.627000 57 62 0 0 0.014410 0 0 HTRA1 5654 broad.mit.edu 37 10 124271537 124271537 + Silent SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:124271537A>G ENST00000368984.3 + 8 1358 c.1230A>G c.(1228-1230)tcA>tcG p.S410S NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 410 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) ACGTGATCTCAGGAGCGTATA 0.493000 3 88 0 0 0.004672 0 0 SYT17 51760 broad.mit.edu 37 16 19195180 19195180 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:19195180G>A ENST00000562034.1 + 3 4277 c.479G>A c.(478-480)cGc>cAc p.R160H SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H|SYT17_ENST00000355377.2_Missense_Mutation_p.R221H Q9BSW7 SYT17_HUMAN synaptotagmin XVII 221 membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 GATGGCTCGCGCCAGGACATG 0.612000 7 221 0 0 0.003080 0 0 CPNE3 8895 broad.mit.edu 37 8 87549807 87549807 + Nonsense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr8:87549807C>A ENST00000521271.1 + 7 638 c.476C>A c.(475-477)tCa>tAa p.S159* CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159* NM_003909.3 NP_003900.1 O75131 CPNE3_HUMAN copine III 159 C2 2. lipid metabolic process|vesicle-mediated transport cytosol calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 23 TTTGGAAAGTCAGACCCATAC 0.403000 28 43 7.01153e-11 2.79209e-10 0.007291 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C C T rs79388709 TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:39274206C>T ENST00000391413.2 - 1 400 c.362G>A c.(361-363)aGa>aAa p.R121K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.R121K(5) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.652000 6 57 0 0 0.001984 0 0 AHNAK2 113146 broad.mit.edu 37 14 105421875 105421875 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr14:105421875G>A ENST00000333244.5 - 5 530 c.411C>T c.(409-411)ttC>ttT p.F137F NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 137 PDZ. 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) CTTGCTTGACGAAGATCCCCT 0.582000 26 73 0 0 0.004656 0 0 LCE2B 26239 broad.mit.edu 37 1 152659383 152659383 + Missense_Mutation SNP C C T rs146504201 TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:152659383C>T ENST00000368780.3 + 2 118 c.64C>T c.(64-66)Cca>Tca p.P22S LCE2B_ENST00000417924.2_Missense_Mutation_p.P22S NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 22 Cys-rich.|Pro-rich. keratinization endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CAAGTGTACCCCAAAATGTCC 0.547000 145 66 0 0 0.014410 0 0 UNC5B 219699 broad.mit.edu 37 10 73047379 73047379 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:73047379C>T ENST00000335350.6 + 6 1174 c.758C>T c.(757-759)gCa>gTa p.A253V UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 253 TSP type-1 1. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TCCAGCTGGGCAGAGTGGTCA 0.667000 42 68 0 0 0.013114 0 0 GALNS 2588 broad.mit.edu 37 16 88904133 88904133 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:88904133C>T ENST00000268695.5 - 5 551 c.463G>A c.(463-465)Gga>Aga p.G155R GALNS_ENST00000542788.1_Missense_Mutation_p.G80R NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 155 G -> E (in MPS4A).|G -> R (in MPS4A; severe form). lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) TCATCAAATCCGTGCTTCAGG 0.572000 49 64 0 0 0.014410 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36234735 36234735 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:36234735G>A ENST00000412391.2 - 7 566 c.553C>T c.(553-555)Ctc>Ttc p.L185F AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F Q8WU68 U2AF4_HUMAN U2 small nuclear RNA auxiliary factor 1-like 4 185 mRNA processing|RNA splicing nuclear speck|spliceosomal complex nucleotide binding|RNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGCCCATAGAGCTGCCTCTGG 0.572000 7 13 0 0 0.006214 0 0 CACNA1E 777 broad.mit.edu 37 1 181767512 181767512 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:181767512G>A ENST00000526775.1 + 46 6463 c.6298G>A c.(6298-6300)Gtc>Atc p.V2100I CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V2162I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2162 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCTCCCACCCGTCCCGCCAAA 0.627000 51 21 0 0 0.014410 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 9 210 0 0 0.004482 0 0 AHCY 191 broad.mit.edu 37 20 32878543 32878543 + Missense_Mutation SNP T T C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr20:32878543T>C ENST00000538132.1 - 6 1062 c.676A>G c.(676-678)Atg>Gtg p.M226V AHCY_ENST00000217426.2_Missense_Mutation_p.M254V NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 254 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTACCCTCCATGGCAGCCTGC 0.632000 86 102 0 0 0.014410 0 0 PCDHA9 0 broad.mit.edu 37 5 140229692 140229692 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr5:140229692C>T ENST00000378122.3 + 1 2336 c.1612C>T c.(1612-1614)Cgc>Tgc p.R538C PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGAGCGCGCGCGACGCGGG 0.667000 105 129 0 0 0.014410 0 0 CD101 9398 broad.mit.edu 37 1 117552477 117552477 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:117552477C>T ENST00000256652.4 + 2 107 c.49C>T c.(49-51)Ctc>Ttc p.L17F CD101_ENST00000369470.1_Missense_Mutation_p.L17F NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 17 cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ACAAGCTAAGCTCAGCATTGG 0.443000 28 39 0 0 0.009535 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627707 43627707 + Missense_Mutation SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr9:43627707A>G ENST00000332857.6 - 4 1008 c.980T>C c.(979-981)gTc>gCc p.V327A NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TATCCCCACGACATTCTGGCC 0.458000 7 384 0 0 0.006214 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238671963 238671963 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:238671963G>A ENST00000244815.5 + 10 1775 c.1535G>A c.(1534-1536)aGt>aAt p.S512N LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 536 DNA-binding. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) ACAGGTCCAAGTACAGTAGAC 0.473000 50 70 0 0 0.014410 0 0 NINJ2 4815 broad.mit.edu 37 12 675072 675072 + Silent SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr12:675072C>T ENST00000433832.2 - 2 398 c.198G>A c.(196-198)ccG>ccA p.P66P NINJ2_ENST00000305108.4_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000542920.1_Intron Q9NZG7 NINJ2_HUMAN ninjurin 2 0 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CTGCCAGCCACGGGTGCCGAG 0.632000 8 23 0 0 0.003080 0 0 BIVM-ERCC5 0 broad.mit.edu 37 13 103492069 103492069 + Missense_Mutation SNP A A C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr13:103492069A>C ENST00000602836.1 + 9 1280 c.1280A>C c.(1279-1281)cAa>cCa p.Q427P BIVM_ENST00000257336.1_Missense_Mutation_p.N456H|BIVM_ENST00000448849.2_Missense_Mutation_p.N234H|BIVM_ENST00000419638.1_3'UTR NM_001204425.1 NP_001191354.1 Q59FZ7 Q59FZ7_HUMAN 0 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding GAGTGAAGACAATATTTCCAA 0.458000 3 132 0 0 0.000602 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 8 63 0 0 0.008291 0 0 LCN9 392399 broad.mit.edu 37 9 138557738 138557738 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr9:138557738G>A ENST00000277526.3 + 6 507 c.507G>A c.(505-507)ccG>ccA p.P169P LCN9_ENST00000430290.2_3'UTR NM_001001676.1 NP_001001676.1 Q8WX39 LCN9_HUMAN lipocalin 9 169 extracellular region pheromone binding|transporter activity kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 6 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05) ACAGGAGCCCGCCCAGGCCTC 0.687000 9 12 0 0 0.008291 0 0 KLK4 9622 broad.mit.edu 37 19 51412631 51412631 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:51412631C>T ENST00000324041.1 - 2 100 c.101G>A c.(100-102)gGc>gAc p.G34D NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 34 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GCAGTCCTCGCCGTTTATGAT 0.647000 158 180 0 0 0.014410 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274214 39274214 + Missense_Mutation SNP G G C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:39274214G>C ENST00000391413.2 - 1 392 c.354C>G c.(352-354)agC>agG p.S118R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 118 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtctgcagcagctggacacac 0.652000 5 60 0 0 0.003080 0 0 CAGE1 285782 broad.mit.edu 37 6 7373784 7373784 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr6:7373784C>T ENST00000502583.1 - 5 1832 c.1268G>A c.(1267-1269)aGg>aAg p.R423K CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K|CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 423 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) AGTCATGTACCTTTCCTGTAA 0.348000 43 50 0 0 0.008740 0 0 LTF 4057 broad.mit.edu 37 3 46491405 46491405 + Missense_Mutation SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr3:46491405C>A ENST00000231751.4 - 8 1291 c.996G>T c.(994-996)agG>agT p.R332S LTF_ENST00000417439.1_Missense_Mutation_p.R332S|LTF_ENST00000426532.2_Missense_Mutation_p.R288S NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 332 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CAGAATCTATCCTCGGGGGCA 0.557000 30 26 2.70662e-09 1.05891e-08 0.009535 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599103 136599103 + Missense_Mutation SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr6:136599103C>T ENST00000531224.1 - 4 1168 c.916G>A c.(916-918)Gca>Aca p.A306T BCLAF1_ENST00000527759.1_Missense_Mutation_p.A304T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A306T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A304T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A304T|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A306T NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 306 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.A306S(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TTCTGTGGTGCGATTGTCTTT 0.458000 24 130 0 0 0.004656 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232649979 232649979 + Missense_Mutation SNP C C T rs113255944 TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:232649979C>T ENST00000366630.1 - 2 1465 c.1107G>A c.(1105-1107)atG>atA p.M369I SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 369 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GGCCCGTAGGCATCTGAGTCT 0.507000 6 139 0 0 0.001168 0 0 LGR6 59352 broad.mit.edu 37 1 202205107 202205107 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:202205107G>A ENST00000367278.3 + 4 503 c.414G>A c.(412-414)ccG>ccA p.P138P LGR6_ENST00000255432.7_Silent_p.P86P|LGR6_ENST00000439764.2_Silent_p.P95P NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 138 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GGGAGCTGCCGAGCCTGCAGT 0.607000 5 67 0 0 0.001168 0 0 PHLDB1 23187 broad.mit.edu 37 11 118516357 118516357 + Silent SNP C C T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr11:118516357C>T ENST00000361417.2 + 17 3816 c.3405C>T c.(3403-3405)gaC>gaT p.D1135D PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000524713.1_Silent_p.D278D|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.D186D NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 1135 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCTCCCCTGACAACATGTCCA 0.642000 34 54 0 0 0.012213 0 0 FAM83E 54854 broad.mit.edu 37 19 49107168 49107168 + Splice_Site SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:49107168G>A ENST00000263266.3 - 4 948 c.758_splice c.e4-1 p.S253_splice NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 253 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) TCCACGTGAAGCTGGGGGTCG 0.662000 27 36 0 0 0.006320 0 0 AFF3 3899 broad.mit.edu 37 2 100203740 100203740 + Splice_Site SNP A A G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:100203740A>G ENST00000317233.4 - 15 2702 c.2466_splice c.e15-1 p.C823_splice AFF3_ENST00000409236.1_Splice_Site_p.C823_splice|AFF3_ENST00000356421.2_Splice_Site_p.C848_splice|AFF3_ENST00000409579.1_Splice_Site_p.C848_splice NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 823 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TCGTTGTCACACTGTATGGGA 0.493000 66 95 0 0 0.014410 0 0 MCF2L 23263 broad.mit.edu 37 13 113732744 113732744 + Silent SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr13:113732744G>A ENST00000397030.1 + 14 1864 c.1827G>A c.(1825-1827)agG>agA p.R609R MCF2L_ENST00000535094.2_Silent_p.R576R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000442652.2_Silent_p.R606R|MCF2L_ENST00000423482.2_Silent_p.R574R O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 606 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CCTACCGGAGGGCCAAGGTGA 0.682000 11 20 0 0 0.010729 0 0 IQCC 55721 broad.mit.edu 37 1 32673327 32673327 + Missense_Mutation SNP T T C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr1:32673327T>C ENST00000537469.1 + 5 1332 c.1285T>C c.(1285-1287)Tca>Cca p.S429P IQCC_ENST00000291358.6_Missense_Mutation_p.S349P NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 349 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTATGAGGACTCAAATATTAA 0.498000 3 151 0 0 0.009096 0 0 PPRC1 23082 broad.mit.edu 37 10 103906651 103906651 + Missense_Mutation SNP G G A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr10:103906651G>A ENST00000278070.2 + 9 3941 c.3902G>A c.(3901-3903)cGg>cAg p.R1301Q PPRC1_ENST00000370012.1_Missense_Mutation_p.R268Q|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TATTGTGTCCGGAGCAGGACC 0.572000 37 31 0 0 0.005524 0 0 SPOP 8405 broad.mit.edu 37 17 47696431 47696431 + Missense_Mutation SNP C C G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:47696431C>G ENST00000393331.3 - 7 862 c.392G>C c.(391-393)tGg>tCg p.W131S SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CTTGAATCCCCAGTCTTTGCC 0.453000 Prostate(2;0.17) 77 106 0 0 0.014410 0 0 KRT14 3861 broad.mit.edu 37 17 39742796 39742796 + Silent SNP A A C TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr17:39742796A>C ENST00000167586.6 - 1 377 c.291T>G c.(289-291)ggT>ggG p.G97G NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 97 Head. 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) caaagccaccacccaagccag 0.622000 12 58 0 0 0.003330 0 0 LTN1 26046 broad.mit.edu 37 21 30331780 30331780 + Splice_Site SNP C C A TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr21:30331780C>A ENST00000361371.4 - 13 2743 c.2593_splice c.e13+1 p.D865_splice LTN1_ENST00000389194.2_Splice_Site_p.D911_splice NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 865 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 AGGCTATTACCTGGCAAATGT 0.388000 6 229 0.00116845 0.00441633 0.001168 1 0 SSB 6741 broad.mit.edu 37 2 170667531 170667531 + Frame_Shift_Del DEL C C - TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr2:170667531delC ENST00000409333.1 + 10 1221 c.974delC c.(973-975)tcfs p.S325fs SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron P05455 LA_HUMAN Sjogren syndrome antigen B (autoantigen La) 325 histone mRNA metabolic process|tRNA modification nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding|tRNA binding endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CAACAAGAATCCCTAAACAAA 0.343 23 10 --- --- --- --- BOD1L1 259282 broad.mit.edu 37 4 13610188 13610189 + Frame_Shift_Ins INS - - T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr4:13610188_13610189insT ENST00000040738.5 - 8 1842_1843 c.1707_1708insA c.(1705-1710)aatagcfs p.NS569fs NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 569 Lys-rich. DNA binding CTTAAGGCTACTTTTTTTTCTA 0.366 5 10 --- --- --- --- RP11-114H23.1 0 broad.mit.edu 37 12 76082490 76082491 + RNA INS - - T rs141632958 TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr12:76082490_76082491insT ENST00000552856.1 - 0 401 cattctTTTTCTTTTTTTTTTT 0.361 3 4 --- --- --- --- CLEC16A 23274 broad.mit.edu 37 16 11076736 11076738 + Splice_Site DEL TCT TCT - TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr16:11076736_11076738delTCT ENST00000409790.1 + 10 1189_1191 c.957_splice c.e10-1 p.VF320_splice CLEC16A_ENST00000409552.3_Splice_Site_p.VF318_splice NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 320 breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 TTCCGCCAGGTCTTCTTAATTAT 0.448 18 36 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 7 352 --- --- --- --- XRCC6 2547 broad.mit.edu 37 22 42024154 42024155 + Frame_Shift_Ins INS - - T TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3bbac3a7-c057-4b25-acbe-f195ef6045ff 93783be5-df68-4487-ac57-940bf725cbbd g.chr22:42024154_42024155insT ENST00000359308.4 + 2 770_771 c.115_116insT c.(115-117)tttfs p.F39fs XRCC6_ENST00000428575.2_Intron|XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.F39fs P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 39 Ser-rich (potentially targets for phosphorylation). DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 AGATAGTTTGATTTTTTTGGTT 0.332 Non-homologous end-joining 36 44 --- --- --- ---