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 OR4D11 219986 broad.mit.edu 37 11 59271552 59271552 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:59271552C>A ENST00000313253.1 + 1 504 c.504C>A c.(502-504)ttC>ttA p.F168L NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTCTCCCTTTCTGTGGACCCA 0.512000 19 80 1.40151e-16 5.61321e-15 0.000175454 1 0 SALL1 6299 broad.mit.edu 37 16 51173271 51173271 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:51173271G>A ENST00000440970.1 - 2 3002 c.2571C>T c.(2569-2571)agC>agT p.S857S SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.S954S|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 954 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S954S(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGCAAACTCGCTTGGGACCG 0.517000 13 22 0 0 0.000151284 0 0 TUBG1 7283 broad.mit.edu 37 17 40766632 40766632 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:40766632G>A ENST00000251413.3 + 10 1177 c.1115G>A c.(1114-1116)cGg>cAg p.R372Q NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 372 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) TCGGCCCACCGGGTCAGCGGG 0.592000 15 45 0 0 0.000175454 0 0 ZNF577 84765 broad.mit.edu 37 19 52383578 52383578 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:52383578C>G ENST00000420592.1 - 3 1391 c.58G>C c.(58-60)Gag>Cag p.E20Q ZNF577_ENST00000301399.5_Missense_Mutation_p.E20Q|ZNF577_ENST00000451628.2_Missense_Mutation_p.E20Q|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Missense_Mutation_p.E20Q Q9BSK1 ZN577_HUMAN zinc finger protein 577 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) aaatttacctcccctgaagaa 0.423000 22 110 0 0 0.000117367 0 0 METTL25 84190 broad.mit.edu 37 12 82870447 82870447 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:82870447T>A ENST00000248306.3 + 10 1666 c.1597T>A c.(1597-1599)Tac>Aac p.Y533N NM_032230.2 NP_115606.2 methyltransferase like 25 TATAATGAACTACTACGAGAA 0.284000 18 95 0 0 9.7654e-05 0 0 CUBN 8029 broad.mit.edu 37 10 16870832 16870832 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:16870832G>A ENST00000377833.4 - 66 10801 c.10736C>T c.(10735-10737)tCt>tTt p.S3579F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3579 CUB 27. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAGGATGGAGAGCTGGCGTT 0.433000 OREG0020047 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 37 0 0 8.12818e-05 0 0 AK7 122481 broad.mit.edu 37 14 96864496 96864496 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:96864496C>A ENST00000267584.4 + 2 234 c.190C>A c.(190-192)Ctg>Atg p.L64M AK7_ENST00000555570.1_Missense_Mutation_p.L64M NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 64 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GTCAGCTATGCTGGAAGCTTC 0.488000 13 72 1.3612e-06 4.94594e-05 0.000308642 1 0 DDHD1 80821 broad.mit.edu 37 14 53527915 53527915 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:53527915T>C ENST00000357758.3 - 8 1954 c.1771A>G c.(1771-1773)Aag>Gag p.K591E DDHD1_ENST00000323669.5_Missense_Mutation_p.K591E|DDHD1_ENST00000395606.1_Missense_Mutation_p.K598E NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 591 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) TCTATTTCCTTCAGCCTAAGA 0.348000 15 79 0 0 5.01169e-05 0 0 LILRA6 79168 broad.mit.edu 37 19 54746049 54746049 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:54746049C>A ENST00000440558.2 - 3 256 c.208G>T c.(208-210)Gac>Tac p.D70Y LILRA6_ENST00000396365.2_Missense_Mutation_p.D70Y|LILRA6_ENST00000245621.5_Missense_Mutation_p.D70Y|LILRA6_ENST00000391735.3_Missense_Mutation_p.D70Y|LILRA6_ENST00000270464.5_Missense_Mutation_p.D70Y|LILRB3_ENST00000407860.2_Missense_Mutation_p.D70Y|LILRA6_ENST00000419410.2_Missense_Mutation_p.D70Y leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TTATTTCTGTCCAAGGGCTCT 0.567000 18 147 2.98393e-07 1.10124e-05 0.000375601 1 0 KIF4B 285643 broad.mit.edu 37 5 154394225 154394225 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:154394225G>A ENST00000435029.4 + 1 966 c.806G>A c.(805-807)tGc>tAc p.C269Y NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 269 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGCCTCCTATGCTTGGGAAAT 0.443000 15 58 0 0 0.000308642 0 0 NEFH 4744 broad.mit.edu 37 22 29885318 29885318 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr22:29885318G>T ENST00000310624.6 + 4 1722 c.1689G>T c.(1687-1689)gaG>gaT p.E563D NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 563 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CACCGCCTGAGGCCAAGTCCC 0.572000 6 39 2.0095e-06 7.19033e-05 8.12818e-05 1 0 CRY1 1407 broad.mit.edu 37 12 107395137 107395137 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:107395137G>T ENST00000008527.5 - 5 1472 c.605C>A c.(604-606)aCa>aAa p.T202K NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 202 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 TAAGCCATCTGTATCAAAACC 0.343000 5 73 0.000274275 0.0086698 0.000274275 1 0 MYOF 26509 broad.mit.edu 37 10 95072788 95072788 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:95072788G>C ENST00000371501.4 - 51 6000 c.5878C>G c.(5878-5880)Cgc>Ggc p.R1960G MYOF_ENST00000359263.4_Missense_Mutation_p.R1960G|MYOF_ENST00000371502.4_Missense_Mutation_p.R1950G|MYOF_ENST00000358334.5_Missense_Mutation_p.R1947G Q9NZM1 MYOF_HUMAN myoferlin 1960 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCCATTACGCGGGCGCCATCT 0.458000 6 293 0 0 0.000157383 0 0 GPR98 84059 broad.mit.edu 37 5 90004696 90004696 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:90004696G>T ENST00000405460.2 + 39 8890 c.8794G>T c.(8794-8796)Gct>Tct p.A2932S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2932 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACTTACCATGGCTGCTTCAAC 0.343000 32 52 6.05902e-23 2.4546e-21 0.000109025 1 0 PTPRM 5797 broad.mit.edu 37 18 8143677 8143677 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr18:8143677G>A ENST00000332175.8 + 14 3237 c.2200G>A c.(2200-2202)Gag>Aag p.E734K PTPRM_ENST00000444013.1_Missense_Mutation_p.E521K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E672K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E734K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E734K NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 734 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) CCCAGAACCCGAGAAACAGAC 0.423000 12 60 0 0 0.000151284 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216085 140216085 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140216085C>T ENST00000525929.1 + 1 2117 c.2117C>T c.(2116-2118)gCg>gTg p.A706V PCDHA7_ENST00000378125.3_Missense_Mutation_p.A706V|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCATCTGCGCGGTGTCCAGT 0.617000 7 19 0 0 6.40141e-05 0 0 LARP1 23367 broad.mit.edu 37 5 154179306 154179306 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:154179306C>T ENST00000336314.4 + 9 1326 c.1302C>T c.(1300-1302)taC>taT p.Y434Y NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 511 HTH La-type RNA-binding. protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GTCAGCACTACCAAAAGGAGA 0.527000 18 26 0 0 9.7654e-05 0 0 SECISBP2 79048 broad.mit.edu 37 9 91963071 91963071 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:91963071C>T ENST00000375807.3 + 12 1751 c.1680C>T c.(1678-1680)gaC>gaT p.D560D SECISBP2_ENST00000339901.4_Silent_p.D487D|SECISBP2_ENST00000534113.2_Silent_p.D492D NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 560 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CCAGTGATGACACACAAGATG 0.403000 16 68 0 0 9.7654e-05 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132758 91132758 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:91132758C>A ENST00000373094.1 + 2 2364 c.1519C>A c.(1519-1521)Cct>Act p.P507T PCDH11X_ENST00000373088.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P507T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P507T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P507T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P507T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P507T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 507 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCTGCTAGGCCCTGATGCTCC 0.423000 12 10 1.08611e-07 4.05078e-06 6.40141e-05 1 0 ACO2 50 broad.mit.edu 37 22 41895779 41895779 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr22:41895779G>C ENST00000396512.3 + 2 103 c.86G>C c.(85-87)cGg>cCg p.R29P ACO2_ENST00000216254.4_Missense_Mutation_p.R29P Q99798 ACON_HUMAN aconitase 2, mitochondrial 29 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CTGTGCCAACGGGCCAAGGTG 0.517000 4 131 0 0 0.00024832 0 0 SPOCD1 90853 broad.mit.edu 37 1 32264059 32264059 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:32264059C>T ENST00000360482.2 - 8 2141 c.2012G>A c.(2011-2013)cGg>cAg p.R671Q SPOCD1_ENST00000533231.1_Missense_Mutation_p.R671Q|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R164Q|SPOCD1_ENST00000373648.2_3'UTR NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 671 TFIIS central. R -> W (in a breast cancer sample; somatic mutation). transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCTGGGGTCCCGCAGGTTGAA 0.617000 12 21 0 0 0.00010058 0 0 IQSEC1 9922 broad.mit.edu 37 3 12977740 12977740 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:12977740G>A ENST00000273221.4 - 3 1034 c.818C>T c.(817-819)gCg>gTg p.A273V NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 273 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGCCCGCGCCGCATCCAGGGC 0.642000 8 24 0 0 0.000274275 0 0 SMARCC1 6599 broad.mit.edu 37 3 47762163 47762163 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:47762163G>C ENST00000254480.5 - 7 828 c.709C>G c.(709-711)Cca>Gca p.P237A SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 237 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TACCTGTCTGGGTAAAAGCCC 0.363000 4 157 0 0 1.23904e-05 0 0 LMBRD2 92255 broad.mit.edu 37 5 36141228 36141228 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:36141228T>C ENST00000296603.4 - 4 811 c.349A>G c.(349-351)Acg>Gcg p.T117A NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 117 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATTGTGACGTCCAATACACT 0.313000 30 103 0 0 0.000339439 0 0 IP6K1 9807 broad.mit.edu 37 3 49775724 49775724 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:49775724G>C ENST00000321599.4 - 3 656 c.355C>G c.(355-357)Cgc>Ggc p.R119G IP6K1_ENST00000395238.1_5'UTR|IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.R119G NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 119 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity p.R119S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 AGGCTCCGGCGGGAGTGTTTG 0.542000 4 39 0 0 0.00024832 0 0 LRRC17 10234 broad.mit.edu 37 7 102574878 102574878 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:102574878C>T ENST00000249377.4 + 2 799 c.518C>T c.(517-519)aCg>aTg p.T173M FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.T173M|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Intron NM_005824.2 NP_005815.2 Q8N6Y2 LRC17_HUMAN leucine rich repeat containing 17 173 LRRCT 1. bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 GAGATAGAAACGCTTATTTCA 0.433000 12 103 0 0 0.000219431 0 0 HAVCR1 26762 broad.mit.edu 37 5 156469687 156469687 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:156469687T>C ENST00000339252.3 - 5 1320 c.788A>G c.(787-789)aAt>aGt p.N263S HAVCR1_ENST00000544197.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.N263S|HAVCR1_ENST00000517644.1_5'UTR NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 258 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CACGGTGTCATTCCCATCTAC 0.353000 16 83 0 0 0.000132079 0 0 ECE1 1889 broad.mit.edu 37 1 21564651 21564651 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:21564651G>A ENST00000415912.2 - 11 1442 c.1317C>T c.(1315-1317)acC>acT p.T439T ECE1_ENST00000357071.4_Silent_p.T443T|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Silent_p.T455T|ECE1_ENST00000264205.6_Silent_p.T452T|ECE1_ENST00000374893.6_Silent_p.T455T NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 455 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CCTCGGCGAAGGTTGCTTTGA 0.537000 8 18 0 0 0.000274275 0 0 DHCR7 1717 broad.mit.edu 37 11 71146483 71146483 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:71146483C>T ENST00000355527.3 - 9 1642 c.1366G>A c.(1366-1368)Ggc>Agc p.G456S DHCR7_ENST00000407721.2_Missense_Mutation_p.G456S NM_001163817.1|NM_001360.2 NP_001157289.1|NP_001351.2 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 456 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1) 19 NADH(DB00157) CAGTCCCGGCCGTACTTGCTG 0.657000 Smith-Lemli-Opitz syndrome 10 29 0 0 3.86212e-05 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12920063 12920063 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:12920063A>G ENST00000240189.2 + 3 890 c.803A>G c.(802-804)cAc>cGc p.H268R NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 268 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGGCTGGAACACCTCCAGTTG 0.463000 17 74 0 0 3.45872e-05 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3405563 3405563 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:3405563G>C ENST00000324266.5 + 3 1258 c.1063G>C c.(1063-1065)Gac>Cac p.D355H TRAPPC12_ENST00000382110.2_Missense_Mutation_p.D355H NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 355 binding TGCAGTTAAAGACTTGATGCT 0.378000 17 135 0 0 5.01169e-05 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47564902 47564902 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:47564902A>G ENST00000334194.3 + 8 1016 c.1013A>G c.(1012-1014)cAg>cGg p.Q338R CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 338 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 GAGCATCAGCAGAGATGCCGA 0.458000 3 35 0 0 0.00024832 0 0 PRSS1 5644 broad.mit.edu 37 7 142460848 142460848 + Missense_Mutation SNP A A T rs141554682 byFrequency TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:142460848A>T ENST00000486171.1 + 6 780 c.763A>T c.(763-765)Aac>Tac p.N255Y PRSS1_ENST00000311737.7_Missense_Mutation_p.N241Y P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 241 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ATGGATTAAGAACACCATAGC 0.493000 7 32 0 0 8.12818e-05 0 0 ALMS1 7840 broad.mit.edu 37 2 73826530 73826530 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:73826530A>G ENST00000264448.6 + 17 11658 c.11547A>G c.(11545-11547)gtA>gtG p.V3849V ALMS1_ENST00000409009.1_Silent_p.V3807V NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3849 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TTTTCTAGGTAGCAAACCATG 0.368000 36 180 0 0 0.000374591 0 0 ABCC5 10057 broad.mit.edu 37 3 183663676 183663676 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:183663676G>T ENST00000334444.6 - 24 3706 c.3466C>A c.(3466-3468)Cga>Aga p.R1156R ABCC5_ENST00000265586.6_Silent_p.R1113R NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1156 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GAGGTGAATCGAGCTTCTGTC 0.448000 7 265 0.000274275 0.0086698 0.000274275 1 0 CDR2 1039 broad.mit.edu 37 16 22360714 22360714 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:22360714C>T ENST00000268383.2 - 4 699 c.392G>A c.(391-393)aGc>aAc p.S131N NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 131 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) CTCCACTTGGCTCTGGAGGTG 0.527000 27 60 0 0 0.000184323 0 0 CRB1 23418 broad.mit.edu 37 1 197316484 197316484 + Missense_Mutation SNP G G A rs148240351 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:197316484G>A ENST00000367400.3 + 4 998 c.863G>A c.(862-864)tGc>tAc p.C288Y CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.C288Y|CRB1_ENST00000535699.1_Missense_Mutation_p.C219Y|CRB1_ENST00000543483.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 288 EGF-like 7; calcium-binding (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AGCTGTAACTGCACGGGTAGT 0.388000 18 131 0 0 7.07596e-05 0 0 TNIK 23043 broad.mit.edu 37 3 170858204 170858204 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:170858204C>A ENST00000436636.2 - 13 1660 c.1316G>T c.(1315-1317)cGt>cTt p.R439L TNIK_ENST00000488470.1_Missense_Mutation_p.R439L|TNIK_ENST00000475336.1_Missense_Mutation_p.R439L|TNIK_ENST00000460047.1_Missense_Mutation_p.R439L|TNIK_ENST00000369326.5_Missense_Mutation_p.R439L|TNIK_ENST00000357327.5_Missense_Mutation_p.R439L|TNIK_ENST00000470834.1_Missense_Mutation_p.R439L|TNIK_ENST00000284483.8_Missense_Mutation_p.R439L|TNIK_ENST00000341852.6_Missense_Mutation_p.R439L|TNIK_ENST00000538048.1_Missense_Mutation_p.R439L NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 439 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ATGCTCCGCACGCCTCCTCTC 0.652000 30 112 6.05902e-23 2.4546e-21 0.000109025 1 0 PTPRG 5793 broad.mit.edu 37 3 62153671 62153671 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:62153671C>T ENST00000474889.1 + 8 1244 c.867C>T c.(865-867)acC>acT p.T289T PTPRG_ENST00000295874.10_Silent_p.T289T NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 289 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCATCTTCACCACGGAGCAGC 0.473000 7 46 0 0 0.000274275 0 0 OR13D1 286365 broad.mit.edu 37 9 107456988 107456988 + Nonsense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:107456988G>T ENST00000318763.5 + 1 329 c.286G>T c.(286-288)Gga>Tga p.G96* NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TTTCTTTCTTGGAAACCTCTC 0.413000 11 337 0.000219431 0.00709528 0.000219431 1 0 CACNG8 59283 broad.mit.edu 37 19 54466610 54466610 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:54466610G>A ENST00000270458.2 + 1 317 c.214G>A c.(214-216)Ggc>Agc p.G72S NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 72 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) CGGGGGCGGCGGCGCCTCGGA 0.726000 3 7 0 0 0.00024832 0 0 DHRS4L1 728635 broad.mit.edu 37 14 24511906 24511906 + RNA SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:24511906C>T ENST00000558293.1 + 0 437 NR_102693.1 dehydrogenase/reductase (SDR family) member 4 like 1 GGCTATGAAGCTTCATGGAGT 0.448000 18 98 0 0 9.7654e-05 0 0 XRN2 22803 broad.mit.edu 37 20 21336733 21336733 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr20:21336733T>C ENST00000377191.3 + 22 2131 c.2036T>C c.(2035-2037)cTt>cCt p.L679P XRN2_ENST00000430571.2_Missense_Mutation_p.L603P|XRN2_ENST00000539513.1_Missense_Mutation_p.L625P NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 679 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 AGAAACAGCCTTGGAGGTGAT 0.403000 7 55 0 0 0.000157383 0 0 HMBOX1 79618 broad.mit.edu 37 8 28906499 28906499 + Silent SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:28906499A>T ENST00000397358.3 + 10 1763 c.1059A>T c.(1057-1059)atA>atT p.I353I HMBOX1_ENST00000444075.1_Silent_p.I352I|HMBOX1_ENST00000519047.1_Silent_p.I352I|HMBOX1_ENST00000523613.1_Silent_p.I353I|HMBOX1_ENST00000355231.5_Silent_p.I352I|HMBOX1_ENST00000558662.1_Silent_p.I352I|HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000287701.10_Silent_p.I353I|HMBOX1_ENST00000524238.1_Silent_p.I352I NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 353 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) GTCATGGGATAGATGTGCAGA 0.473000 13 127 0 0 7.07596e-05 0 0 POSTN 10631 broad.mit.edu 37 13 38138655 38138655 + Splice_Site SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr13:38138655C>T ENST00000379747.4 - 22 2591 c.e22+1 POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AATACACTTACCTTGAACTTT 0.323000 28 96 0 0 0.000339439 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121701229 121701229 + Silent SNP A A C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:121701229A>C ENST00000393386.2 + 30 7314 c.6903A>C c.(6901-6903)gcA>gcC p.A2301A PTPRZ1_ENST00000449182.1_Silent_p.A1434A NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 2301 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ATGGTGCAGCATTGCCTGATG 0.448000 24 38 0 0 7.16444e-05 0 0 PCDH10 57575 broad.mit.edu 37 4 134072296 134072296 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:134072296G>T ENST00000264360.4 + 1 1827 c.1001G>T c.(1000-1002)gGc>gTc p.G334V NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 334 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AAGGACCTGGGCCCCAACGCC 0.597000 11 40 3.86212e-05 0.00133451 3.86212e-05 1 0 ATG2B 55102 broad.mit.edu 37 14 96772063 96772063 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:96772063G>C ENST00000359933.4 - 31 5489 c.4596C>G c.(4594-4596)acC>acG p.T1532T ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1532 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGCTCGTATCGGTCTTATTAA 0.403000 3 48 0 0 6.4e-05 0 0 SCRN1 9805 broad.mit.edu 37 7 29983623 29983623 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:29983623C>G ENST00000426154.1 - 4 690 c.514G>C c.(514-516)Ggg>Cgg p.G172R SCRN1_ENST00000416113.2_Missense_Mutation_p.G63R|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172R|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172R NM_001145513.1 NP_001138985.1 Q12765 SCRN1_HUMAN secernin 1 172 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2) 25 CAGTACTTCCCTATGGTCTCG 0.527000 7 45 0 0 8.12818e-05 0 0 ALG10 84920 broad.mit.edu 37 12 34175620 34175620 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:34175620G>T ENST00000266483.2 + 1 405 c.86G>T c.(85-87)cGg>cTg p.R29L ALG10_ENST00000538927.1_Missense_Mutation_p.R29L|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 29 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GCCTTCAGCCGGGCGTTGCGA 0.597000 12 122 0.000151284 0.00500659 0.000151284 1 0 CCBL2 56267 broad.mit.edu 37 1 89426943 89426943 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:89426943T>C ENST00000260508.4 - 8 1031 c.694A>G c.(694-696)Att>Gtt p.I232V CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.I198V NM_001008661.2 NP_001008661.1 Q6YP21 KAT3_HUMAN cysteine conjugate-beta lyase 2 232 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1) 18 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGGTCAGCAATTACTTGCAGT 0.363000 17 85 0 0 3.45872e-05 0 0 VPS13B 157680 broad.mit.edu 37 8 100493917 100493917 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:100493917C>A ENST00000395996.1 + 25 3868 c.3757C>A c.(3757-3759)Cca>Aca p.P1253T VPS13B_ENST00000357162.2_Missense_Mutation_p.P1253T|VPS13B_ENST00000358544.2_Missense_Mutation_p.P1253T Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1253 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCCAACCTCTCCAGAGACCAT 0.483000 7 132 1.06961e-07 4.01048e-06 0.000157383 1 0 CCDC107 203260 broad.mit.edu 37 9 35660929 35660929 + Silent SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:35660929C>G ENST00000426546.2 + 5 663 c.597C>G c.(595-597)ccC>ccG p.P199P ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000327351.2_Intron|CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Intron|ARHGEF39_ENST00000343259.3_3'UTR NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2 NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2 Q8WV48 CC107_HUMAN coiled-coil domain containing 107 199 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) TGATCTCTCCCCACACAGAGG 0.547000 4 120 0 0 3.59834e-05 0 0 GALNT8 26290 broad.mit.edu 37 12 4835909 4835909 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:4835909G>C ENST00000252318.2 + 2 760 c.423G>C c.(421-423)caG>caC p.Q141H RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 141 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 AGGCGGCCCAGGACCTCTTCC 0.547000 4 21 0 0 0.00024832 0 0 SYNE2 23224 broad.mit.edu 37 14 64443439 64443439 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:64443439A>T ENST00000358025.3 + 12 1517 c.1287A>T c.(1285-1287)ttA>ttT p.L429F SYNE2_ENST00000554584.1_Missense_Mutation_p.L429F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.L429F NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 429 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AAATGACTTTATTCAAGGTTG 0.383000 14 142 0 0 0.000132079 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579439 140579439 + Nonsense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140579439G>A ENST00000354757.3 + 1 92 c.92G>A c.(91-93)tGg>tAg p.W31* PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 31 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTGAAACCTGGAGCTTTTCT 0.527000 7 29 0 0 8.12818e-05 0 0 OR1N2 138882 broad.mit.edu 37 9 125315761 125315761 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:125315761C>G ENST00000373688.2 + 1 371 c.313C>G c.(313-315)Cag>Gag p.Q105E NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 CATTCATACCCAGAGTCAGAT 0.478000 4 133 0 0 1.23904e-05 0 0 SMCO1 255798 broad.mit.edu 37 3 196235135 196235135 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:196235135G>C ENST00000397537.2 - 3 424 c.268C>G c.(268-270)Cgt>Ggt p.R90G NM_001077657.1 NP_001071125.1 single-pass membrane protein with coiled-coil domains 1 TCAAGCACACGAGTATGCAAG 0.423000 6 200 0 0 8.12818e-05 0 0 APLP2 334 broad.mit.edu 37 11 129996669 129996669 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:129996669C>A ENST00000263574.5 + 8 1237 c.1165C>A c.(1165-1167)Cgc>Agc p.R389S APLP2_ENST00000278756.7_Missense_Mutation_p.R399S|APLP2_ENST00000539648.1_Missense_Mutation_p.R177S|APLP2_ENST00000345598.5_Missense_Mutation_p.R160S|APLP2_ENST00000528499.1_Missense_Mutation_p.R333S|APLP2_ENST00000543137.1_Missense_Mutation_p.R296S|APLP2_ENST00000338167.5_Missense_Mutation_p.R389S NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 389 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TGAGCATGCTCGCTTCCAGAA 0.468000 7 104 0.000157383 0.00511242 0.000157383 1 0 DDX19B 11269 broad.mit.edu 37 16 70333201 70333201 + Translation_Start_Site SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:70333201A>G ENST00000288071.6 + 1 246 c.1A>G c.(1-3)Atg>Gtg p.M1V RP11-529K1.3_ENST00000567706.1_Start_Codon_SNP_p.M1V|DDX19B_ENST00000570055.1_Intron|DDX19B_ENST00000568625.1_Intron|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000563392.1_Intron|DDX19B_ENST00000355992.3_Start_Codon_SNP_p.M1V|DDX19B_ENST00000563206.1_Intron|DDX19B_ENST00000451014.3_Intron NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 1 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GCCTGGGACCATGGCCACTGA 0.667000 3 4 0 0 6.4e-05 0 0 TDRKH 11022 broad.mit.edu 37 1 151748310 151748310 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:151748310C>G ENST00000368822.1 - 9 1901 c.1268G>C c.(1267-1269)cGg>cCg p.R423P TDRKH_ENST00000368827.6_Missense_Mutation_p.R423P|TDRKH_ENST00000368824.3_Missense_Mutation_p.R423P|TDRKH_ENST00000368823.1_Missense_Mutation_p.R419P|TDRKH_ENST00000368825.3_Missense_Mutation_p.R378P|TDRKH_ENST00000458431.2_Missense_Mutation_p.R423P|TDRKH_ENST00000440583.2_Missense_Mutation_p.R199P Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 423 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GGGAGCAATCCGTGCCAGACT 0.403000 4 165 0 0 8.12818e-05 0 0 LCE1C 353133 broad.mit.edu 37 1 152777761 152777761 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:152777761C>A ENST00000368768.1 - 2 244 c.194G>T c.(193-195)gGg>gTg p.G65V LCE1C_ENST00000607093.1_Missense_Mutation_p.G65V NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 65 Gly-rich. keratinization p.G65V(1) NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAGCATCCCCCAGAGCTGGA 0.662000 7 42 2.0095e-06 7.19033e-05 8.12818e-05 1 0 CCDC14 64770 broad.mit.edu 37 3 123665745 123665745 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:123665745T>A ENST00000485727.1 - 4 5242 c.650A>T c.(649-651)gAt>gTt p.D217V CCDC14_ENST00000433542.2_Missense_Mutation_p.D376V|CCDC14_ENST00000488653.2_Missense_Mutation_p.D417V|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.D217V|CCDC14_ENST00000310351.4_Missense_Mutation_p.D257V Q49A88 CCD14_HUMAN coiled-coil domain containing 14 417 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) CTTCTGTACATCCTTCACTGT 0.383000 29 157 0 0 0.000227799 0 0 C17orf66 256957 broad.mit.edu 37 17 34185928 34185928 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:34185928C>T ENST00000311880.2 - 9 1051 c.903G>A c.(901-903)caG>caA p.Q301Q C17orf66_ENST00000592980.1_Silent_p.Q261Q NM_152781.2 NP_689994.2 A2RTY3 CQ066_HUMAN chromosome 17 open reading frame 66 301 binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GGCACAGGCACTGCAACAAGA 0.567000 9 55 0 0 3.86212e-05 0 0 ADSS 159 broad.mit.edu 37 1 244574694 244574694 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:244574694G>T ENST00000366535.3 - 12 1529 c.1213C>A c.(1213-1215)Ctc>Atc p.L405I NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 405 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) CATCCTGGGAGAGTCTTATAT 0.343000 20 133 1.28384e-07 4.76304e-06 0.000229342 1 0 ZNF660 285349 broad.mit.edu 37 3 44636533 44636533 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:44636533T>A ENST00000322734.2 + 3 1181 c.848T>A c.(847-849)tTc>tAc p.F283Y RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) GGGAAAACCTTCAGGCAGACT 0.413000 11 25 0 0 0.000151284 0 0 MCOLN2 255231 broad.mit.edu 37 1 85395292 85395292 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:85395292T>A ENST00000370608.3 - 13 1680 c.1613A>T c.(1612-1614)gAg>gTg p.E538V MCOLN2_ENST00000284027.5_Missense_Mutation_p.E510V NM_153259.2 NP_694991.2 Q8IZK6 MCLN2_HUMAN mucolipin 2 538 integral to membrane ion channel activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 18 all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217) TTTCTGATACTCTTCTTTGCT 0.438000 5 20 0 0 1.23904e-05 0 0 SAGE1 55511 broad.mit.edu 37 X 134994090 134994090 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:134994090A>G ENST00000535938.1 + 18 2666 c.2499A>G c.(2497-2499)aaA>aaG p.K833K SAGE1_ENST00000324447.3_Silent_p.K833K|SAGE1_ENST00000537770.1_Silent_p.K457K|SAGE1_ENST00000370709.3_Silent_p.K833K NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 833 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AATTAATGAAAGAAGTTCGAA 0.348000 14 61 0 0 3.45872e-05 0 0 AHNAK 79026 broad.mit.edu 37 11 62297926 62297926 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:62297926G>T ENST00000378024.4 - 5 4237 c.3963C>A c.(3961-3963)ccC>ccA p.P1321P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1321 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGGAGATCTTGGGGGCCTTGA 0.517000 33 80 1.03484e-13 4.12122e-12 0.000191422 1 0 FAM179A 165186 broad.mit.edu 37 2 29240047 29240047 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:29240047C>G ENST00000379558.4 + 9 1423 c.1072C>G c.(1072-1074)Cgg>Ggg p.R358G FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Missense_Mutation_p.R358G NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 358 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAAGTCTGCCCGGGAGAAGAT 0.517000 4 93 0 0 3.59834e-05 0 0 DGKD 8527 broad.mit.edu 37 2 234296984 234296984 + Nonsense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:234296984C>T ENST00000264057.2 + 2 250 c.238C>T c.(238-240)Cga>Tga p.R80* DGKD_ENST00000409813.3_Nonsense_Mutation_p.R36*|DGKD_ENST00000489613.1_3'UTR|AC019221.4_ENST00000442524.1_RNA NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 80 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) GCTTCGAGGGCGAACGCTTTA 0.507000 25 59 0 0 0.000117367 0 0 SNHG23 100507242 broad.mit.edu 37 14 101421764 101421764 + RNA SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:101421764C>T ENST00000556637.1 + 0 399 SNORD114-5_ENST00000362928.1_RNA GTGTCTAGAACTCTGAGGTCC 0.418000 10 34 0 0 6.40141e-05 0 0 INTS12 57117 broad.mit.edu 37 4 106621142 106621142 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:106621142C>A ENST00000451321.2 - 2 500 c.21G>T c.(19-21)ttG>ttT p.L7F INTS12_ENST00000340139.5_Missense_Mutation_p.L7F|INTS12_ENST00000394735.1_Missense_Mutation_p.L7F NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 7 snRNA processing integrator complex protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) GATCAAGTTCCAAGTTCACAG 0.358000 10 168 0.000151284 0.00500659 0.000151284 1 0 ABCA12 26154 broad.mit.edu 37 2 215976352 215976352 + Missense_Mutation SNP C C A rs113648834 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:215976352C>A ENST00000272895.7 - 2 350 c.131G>T c.(130-132)cGg>cTg p.R44L ABCA12_ENST00000412081.1_Missense_Mutation_p.R44L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 44 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAATTTGGTCCGAGTAATAGC 0.299000 6 103 0.000157383 0.00511242 0.000157383 1 0 MROH2B 133558 broad.mit.edu 37 5 40999824 40999824 + Missense_Mutation SNP T T G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:40999824T>G ENST00000399564.4 - 40 4990 c.4540A>C c.(4540-4542)Acc>Ccc p.T1514P MROH2B_ENST00000506092.2_Missense_Mutation_p.T1069P NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CAGGTGCTGGTGAAGAAGGTG 0.468000 3 63 0 0 1.23904e-05 0 0 RNF180 285671 broad.mit.edu 37 5 63509383 63509383 + Splice_Site SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:63509383A>T ENST00000389100.4 + 4 303 c.e4-1 RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Splice_Site NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) TATTACCTGTAGGCCCAGTGG 0.398000 28 107 0 0 7.24521e-05 0 0 IQUB 154865 broad.mit.edu 37 7 123097503 123097503 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:123097503G>A ENST00000466202.1 - 12 2701 c.2125C>T c.(2125-2127)Ccc>Tcc p.P709S IQUB_ENST00000324698.6_Missense_Mutation_p.P709S|RP11-332K15.1_ENST00000419832.1_RNA Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 709 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CAGTTCCAGGGGGACCACTCC 0.453000 18 96 0 0 0.000229342 0 0 HDAC9 9734 broad.mit.edu 37 7 18687544 18687544 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:18687544C>T ENST00000406451.3 + 10 1313 c.1163C>T c.(1162-1164)cCc>cTc p.P388L HDAC9_ENST00000441542.2_Missense_Mutation_p.P391L|HDAC9_ENST00000524023.1_Missense_Mutation_p.P311L|HDAC9_ENST00000401921.1_Missense_Mutation_p.P347L|HDAC9_ENST00000405010.3_Missense_Mutation_p.P388L|HDAC9_ENST00000432645.2_Missense_Mutation_p.P388L|HDAC9_ENST00000428307.2_Missense_Mutation_p.P344L|HDAC9_ENST00000417496.2_Missense_Mutation_p.P386L|HDAC9_ENST00000406072.1_Missense_Mutation_p.P375L|HDAC9_ENST00000456174.2_Missense_Mutation_p.P360L NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 388 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GGAAAGCCACCCAACAGCAGC 0.502000 4 8 0 0 0.00024832 0 0 TTC3 7267 broad.mit.edu 37 21 38516833 38516833 + Missense_Mutation SNP A A C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr21:38516833A>C ENST00000399017.2 + 21 4528 c.1781A>C c.(1780-1782)gAa>gCa p.E594A TTC3_ENST00000355666.1_Missense_Mutation_p.E594A|TTC3_ENST00000354749.2_Missense_Mutation_p.E594A|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.E284A NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 594 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AGATTTCTAGAAGCTCTCAAT 0.373000 25 83 0 0 7.16444e-05 0 0 DPP10 57628 broad.mit.edu 37 2 116510785 116510785 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:116510785A>T ENST00000410059.1 + 11 1466 c.986A>T c.(985-987)aAt>aTt p.N329I DPP10_ENST00000310323.8_Missense_Mutation_p.N322I|DPP10_ENST00000393147.2_Missense_Mutation_p.N333I|DPP10_ENST00000409163.1_Missense_Mutation_p.N279I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 329 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TGGGTAAGCAATACCAAGACT 0.363000 10 41 0 0 0.00010058 0 0 SHC2 25759 broad.mit.edu 37 19 436383 436383 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:436383T>C ENST00000264554.6 - 6 822 c.823A>G c.(823-825)Aga>Gga p.R275G NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 275 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCCTCACCTCTCTGGTTGATG 0.716000 9 16 0 0 3.86212e-05 0 0 WDR26 80232 broad.mit.edu 37 1 224607315 224607315 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:224607315T>C ENST00000414423.2 - 5 960 c.767A>G c.(766-768)tAt>tGt p.Y256C WDR26_ENST00000295024.6_Missense_Mutation_p.Y109C|WDR26_ENST00000366852.2_3'UTR NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 256 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) ACACATCAGATACCTAAAAAT 0.378000 37 33 0 0 0.000270559 0 0 PSG8 440533 broad.mit.edu 37 19 43262160 43262160 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:43262160G>A ENST00000404209.4 - 3 799 c.703C>T c.(703-705)Ctc>Ttc p.L235F PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.L235F|PSG8_ENST00000406636.3_Missense_Mutation_p.L113F|PSG8_ENST00000401467.2_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 235 extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) TCACGGAGGAGATTCAGGGTG 0.527000 24 117 0 0 0.000227799 0 0 STK32A 202374 broad.mit.edu 37 5 146752790 146752790 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:146752790C>A ENST00000397936.3 + 10 1169 c.836C>A c.(835-837)cCg>cAg p.P279Q STK32A_ENST00000398523.3_Missense_Mutation_p.P279Q NM_001112724.1 NP_001106195.1 Q8WU08 ST32A_HUMAN serine/threonine kinase 32A 279 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.P279Q(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGAACTTCCCGTATATGAAT 0.398000 7 90 0.000157383 0.00511242 0.000157383 1 0 CXXC5 51523 broad.mit.edu 37 5 139060331 139060331 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:139060331C>T ENST00000302517.3 + 2 937 c.223C>T c.(223-225)Cgc>Tgc p.R75C CXXC5_ENST00000511048.1_Missense_Mutation_p.R75C NM_016463.7 NP_057547.5 Q7LFL8 CXXC5_HUMAN CXXC finger protein 5 75 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding p.R75C(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCCTGCGCCGCTCCCGCCC 0.647000 7 24 0 0 0.000157383 0 0 PCDHA7 56141 broad.mit.edu 37 5 140216146 140216146 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140216146G>A ENST00000525929.1 + 1 2178 c.2178G>A c.(2176-2178)ccG>ccA p.P726P PCDHA7_ENST00000378125.3_Silent_p.P726P|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCAGCGCCGTCCTCTGAGG 0.612000 11 16 0 0 3.86212e-05 0 0 PRB3 5544 broad.mit.edu 37 12 11420146 11420146 + RNA SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:11420146G>C ENST00000381842.3 - 0 947 PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGCTGTCCCTGGGGAGGTCTG 0.552000 14 30 0 0 3.45872e-05 0 0 SPEF2 79925 broad.mit.edu 37 5 35641632 35641632 + Silent SNP A A C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:35641632A>C ENST00000440995.2 + 3 261 c.261A>C c.(259-261)acA>acC p.T87T SPEF2_ENST00000282469.6_Silent_p.T87T|SPEF2_ENST00000356031.3_Silent_p.T87T|SPEF2_ENST00000509059.1_Silent_p.T87T Q9C093 SPEF2_HUMAN sperm flagellar 2 87 CH. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCATCATCACAGAAAAGCCTG 0.438000 10 83 0 0 6.40141e-05 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788007 140788007 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140788007G>C ENST00000520790.1 + 1 238 c.238G>C c.(238-240)Gag>Cag p.E80Q PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTAGACGCGGAGAGCGGGGA 0.537000 18 34 0 0 0.000295444 0 0 PLA2G4A 5321 broad.mit.edu 37 1 186839595 186839595 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:186839595C>T ENST00000367466.3 + 3 214 c.62C>T c.(61-63)aCg>aTg p.T21M PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T21M|PLA2G4A_ENST00000466600.1_3'UTR NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 21 C2.|Phospholipid binding (Probable). phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) CACAAGTTTACGGTAGTGGTG 0.383000 9 29 0 0 6.40141e-05 0 0 BRCA2 675 broad.mit.edu 37 13 32971100 32971100 + Silent SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr13:32971100C>A ENST00000544455.1 + 26 9794 c.9567C>A c.(9565-9567)ccC>ccA p.P3189P BRCA2_ENST00000380152.3_Silent_p.P3189P NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3189 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CAAATGATCCCAAGTGGTCCA 0.378000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 10 192 0.00010058 0.00336013 0.00010058 1 0 SNX19 399979 broad.mit.edu 37 11 130785040 130785040 + Silent SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:130785040C>G ENST00000265909.4 - 1 1364 c.795G>C c.(793-795)gtG>gtC p.V265V SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Silent_p.V265V|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000528555.1_Intron NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 265 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) AAAAGATACCCACGAGTACAA 0.552000 4 65 0 0 0.00024832 0 0 LDB2 9079 broad.mit.edu 37 4 16760797 16760797 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:16760797A>G ENST00000502640.1 - 2 367 c.219T>C c.(217-219)gaT>gaC p.D73D LDB2_ENST00000441778.2_Silent_p.D73D|LDB2_ENST00000515064.1_Silent_p.D73D|LDB2_ENST00000304523.5_Silent_p.D73D O43679 LDB2_HUMAN LIM domain binding 2 73 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GCTTTGGTCCATCTTCCAAAC 0.418000 11 52 0 0 6.40141e-05 0 0 RRN3 54700 broad.mit.edu 37 16 15157137 15157137 + Silent SNP T T G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:15157137T>G ENST00000198767.6 - 17 1793 c.1710A>C c.(1708-1710)tcA>tcC p.S570S PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000563559.1_Silent_p.S570S|RRN3_ENST00000540462.1_Silent_p.S388S|RRN3_ENST00000429751.2_Silent_p.S540S|RRN3_ENST00000327307.7_Silent_p.S537S NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 570 Interaction with EIF3L.|Interaction with TWISTNB. regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 TGAATTTCTTTGACCTGTCAA 0.373000 18 96 0 0 0.000175454 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325287 47325287 + RNA SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:47325287T>C ENST00000505841.1 - 0 1204 NR_002788.2 AATCCAAACATAGCTGCATTG 0.388000 3 41 0 0 6.4e-05 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454676 114454676 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:114454676A>G ENST00000369563.3 + 4 1908 c.1462A>G c.(1462-1464)Aag>Gag p.K488E DCLRE1B_ENST00000466480.1_Intron NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 488 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) 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) CCACAGCAGCAAGGGCACCCC 0.532000 Other identified genes with known or suspected DNA repair function 11 30 0 0 3.86212e-05 0 0 TTC14 151613 broad.mit.edu 37 3 180321093 180321093 + Silent SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:180321093A>T ENST00000412756.2 + 3 537 c.468A>T c.(466-468)atA>atT p.I156I TTC14_ENST00000296015.4_Silent_p.I156I|TTC14_ENST00000382584.4_Silent_p.I156I NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 156 S1 motif. RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGAGAGATATAGCCCACTTAG 0.358000 16 170 0 0 5.01169e-05 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735676 140735676 + Silent SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140735676A>T ENST00000571252.1 + 1 909 c.909A>T c.(907-909)atA>atT p.I303I PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATAACAATATTGGGGGGTC 0.443000 5 18 0 0 1.23904e-05 0 0 TRMT44 152992 broad.mit.edu 37 4 8469757 8469757 + Nonsense_Mutation SNP G G A rs35357682 byFrequency TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:8469757G>A ENST00000389737.4 + 9 1611 c.1611G>A c.(1609-1611)tgG>tgA p.W537* TRMT44_ENST00000513449.2_Nonsense_Mutation_p.W296* NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) CACCTGGCTGGGAGCTTTCCC 0.587000 4 16 0 0 0.00024832 0 0 NINL 22981 broad.mit.edu 37 20 25484622 25484622 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr20:25484622C>G ENST00000278886.6 - 7 900 c.827G>C c.(826-828)cGg>cCg p.R276P NINL_ENST00000422516.1_Missense_Mutation_p.R276P NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 276 R -> W (in dbSNP:rs13044759). G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 CGGTTTAACCCGAGTGGAAGA 0.488000 4 91 0 0 0.00024832 0 0 CHRDL1 91851 broad.mit.edu 37 X 109919483 109919483 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:109919483C>A ENST00000218054.4 - 12 1543 c.1347G>T c.(1345-1347)gaG>gaT p.E449D CHRDL1_ENST00000444321.2_Missense_Mutation_p.E450D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E371D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E451D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E443D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E449D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E370D NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 443 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 TTTCAGATCTCTCCAGGTACA 0.448000 29 44 2.46105e-21 9.91312e-20 0.000339439 1 0 HDAC4 9759 broad.mit.edu 37 2 240061464 240061464 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:240061464G>A ENST00000345617.3 - 9 1685 c.894C>T c.(892-894)tcC>tcT p.S298S HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000541256.1_Silent_p.S267S NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 298 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) AGCTGGGTCCGGAGCCTGGGG 0.677000 16 28 0 0 9.7654e-05 0 0 SUGP1 57794 broad.mit.edu 37 19 19416690 19416690 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:19416690T>C ENST00000247001.5 - 4 853 c.506A>G c.(505-507)gAg>gGg p.E169G SUGP1_ENST00000334782.5_Missense_Mutation_p.E169G|SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 169 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 ATAGTCCTCCTCCTCGTCCTC 0.647000 6 31 0 0 0.000274275 0 0 DEPDC5 9681 broad.mit.edu 37 22 32200153 32200153 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr22:32200153G>T ENST00000400246.1 + 16 1229 c.1087G>T c.(1087-1089)Ggt>Tgt p.G363C DEPDC5_ENST00000535622.1_Missense_Mutation_p.G363C|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G363C|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G363C|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G363C|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G363C|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G363C|DEPDC5_ENST00000536766.1_Missense_Mutation_p.G335C|DEPDC5_ENST00000400248.1_Missense_Mutation_p.G363C|DEPDC5_ENST00000400242.3_Missense_Mutation_p.G363C O75140 DEPD5_HUMAN DEP domain containing 5 363 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TTTAGGAATTGGTGTGGATTT 0.393000 7 69 8.12818e-05 0.00274141 8.12818e-05 1 0 STAG3 10734 broad.mit.edu 37 7 99800139 99800139 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:99800139G>T ENST00000426455.1 + 25 3033 c.2626G>T c.(2626-2628)Ggg>Tgg p.G876W STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.G818W|STAG3_ENST00000317296.5_Missense_Mutation_p.G876W Q9UJ98 STAG3_HUMAN stromal antigen 3 876 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCTCCTAGCCGGGTTCTGCAA 0.507000 8 163 1.12685e-05 0.000393226 0.000274275 1 0 PHTF2 57157 broad.mit.edu 37 7 77569921 77569921 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:77569921G>T ENST00000416283.2 + 13 1841 c.1715G>T c.(1714-1716)cGg>cTg p.R572L PHTF2_ENST00000275575.7_Missense_Mutation_p.R568L|PHTF2_ENST00000422959.2_Missense_Mutation_p.R572L|PHTF2_ENST00000307305.8_Missense_Mutation_p.R568L|PHTF2_ENST00000248550.7_Missense_Mutation_p.R606L NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding p.R572Q(1)|p.R606Q(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 CCTCATTTCCGGTTGAAGAAA 0.378000 6 132 8.12818e-05 0.00274141 8.12818e-05 1 0 ANO5 203859 broad.mit.edu 37 11 22279232 22279232 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:22279232G>A ENST00000324559.8 + 14 1656 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 447 chloride channel complex|endoplasmic reticulum membrane chloride channel activity p.E447K(1) breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACAGGAGATGGAACCTTACAT 0.378000 26 39 0 0 0.000184323 0 0 LTBR 4055 broad.mit.edu 37 12 6495602 6495602 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:6495602A>G ENST00000228918.4 + 6 985 c.659A>G c.(658-660)gAg>gGg p.E220G LTBR_ENST00000543190.1_3'UTR|LTBR_ENST00000541102.1_Missense_Mutation_p.E113G|LTBR_ENST00000539925.1_Missense_Mutation_p.E201G NM_002342.1 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 220 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 CTGCCCCCAGAGATGTCAGGT 0.547000 6 7 0 0 8.12818e-05 0 0 COL4A3 1285 broad.mit.edu 37 2 228173948 228173948 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:228173948G>A ENST00000396578.3 + 50 4831 c.4669G>A c.(4669-4671)Gcc>Acc p.A1557T AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1557 Collagen IV NC1.|Required for the anti-angiogenic activity of tumstatin. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TCCTGCGATCGCCATAGCCGT 0.473000 10 39 0 0 0.000219431 0 0 FLG 2312 broad.mit.edu 37 1 152277266 152277266 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:152277266G>C ENST00000368799.1 - 3 10131 c.10096C>G c.(10096-10098)Cag>Gag p.Q3366E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3366 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTGGCTCTGCTGATGGGGC 0.582000 Ichthyosis 25 177 0 0 5.49717e-05 0 0 CELSR3 1951 broad.mit.edu 37 3 48694142 48694142 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:48694142G>C ENST00000544264.1 - 2 4668 c.4388C>G c.(4387-4389)cCg>cGg p.P1463R CELSR3_ENST00000164024.4_Missense_Mutation_p.P1463R Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1463 EGF-like 2; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTGAAGCGCGGGCGGCAGAC 0.687000 2 1 0 0 6.4e-05 0 0 ARID4B 51742 broad.mit.edu 37 1 235346105 235346105 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:235346105G>A ENST00000264183.3 - 20 2626 c.2129C>T c.(2128-2130)tCt>tTt p.S710F ARID4B_ENST00000366603.2_Missense_Mutation_p.S710F|ARID4B_ENST00000349213.3_Missense_Mutation_p.S624F NM_016374.5 NP_057458.4 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B (RBP1-like) 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2) 8 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) AGAACTTTCAGAAGCTAGAAA 0.373000 16 71 0 0 9.7654e-05 0 0 TIAL1 7073 broad.mit.edu 37 10 121336173 121336173 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:121336173C>T ENST00000369092.4 - 12 1890 c.582G>A c.(580-582)ccG>ccA p.P194P TIAL1_ENST00000369093.2_Silent_p.P334P|TIAL1_ENST00000436547.2_Silent_p.P317P|TIAL1_ENST00000463089.2_5'UTR Q01085 TIAR_HUMAN TIA1 cytotoxic granule-associated RNA binding protein-like 1 317 apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 13 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) CTCCATAAGGCGGTACTTGCC 0.428000 26 103 0 0 9.22233e-05 0 0 MTA1 9112 broad.mit.edu 37 14 105930441 105930441 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:105930441G>T ENST00000331320.7 + 13 1363 c.1149G>T c.(1147-1149)ccG>ccT p.P383P MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000405646.1_Silent_p.P366P|MTA1_ENST00000406191.1_Silent_p.P383P NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 383 signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CGGGGGCGCCGGGCCAGAGCC 0.652000 15 40 5.01169e-05 0.00172329 5.01169e-05 1 0 MYO5B 4645 broad.mit.edu 37 18 47421488 47421488 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr18:47421488G>C ENST00000285039.7 - 22 3167 c.2868C>G c.(2866-2868)acC>acG p.T956T MYO5B_ENST00000324581.6_Silent_p.T97T NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 956 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CTACCTCCATGGTGTATGTTG 0.552000 3 37 0 0 6.4e-05 0 0 KEAP1 9817 broad.mit.edu 37 19 10610177 10610177 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:10610177T>A ENST00000171111.5 - 2 1080 c.533A>T c.(532-534)cAg>cTg p.Q178L KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.Q178L NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GGGGTCCAGCTGCTGCACCAG 0.567000 6 9 0 0 8.12818e-05 0 0 UBTD2 92181 broad.mit.edu 37 5 171639129 171639129 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:171639129T>C ENST00000393792.2 - 3 815 c.410A>G c.(409-411)gAg>gGg p.E137G NM_152277.2 NP_689490.2 Q8WUN7 UBTD2_HUMAN ubiquitin domain containing 2 137 cytoplasm cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1) 10 Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156) Medulloblastoma(196;0.00853)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ATCCAGAGTCTCTATGTCGCT 0.488000 32 29 0 0 0.000270559 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810581 65810581 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:65810581C>T ENST00000312006.4 - 3 974 c.693G>A c.(691-693)gtG>gtA p.V231V GAL3ST3_ENST00000527878.1_Silent_p.V231V NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 231 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 AAACCTCCTCCACCTGGCGGA 0.662000 6 27 0 0 0.000157383 0 0 OR2T4 127074 broad.mit.edu 37 1 248525876 248525876 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:248525876G>C ENST00000366475.1 + 1 994 c.994G>C c.(994-996)Gct>Cct p.A332P NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 332 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTCATGGGGGCTCTGAAGAA 0.413000 25 109 0 0 7.24521e-05 0 0 RELN 5649 broad.mit.edu 37 7 103207105 103207105 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:103207105G>C ENST00000428762.1 - 32 4849 c.4690C>G c.(4690-4692)Ctg>Gtg p.L1564V RELN_ENST00000343529.5_Missense_Mutation_p.L1564V|RELN_ENST00000424685.2_Missense_Mutation_p.L1564V NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1564 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCCTGTGGCAGGTCAATGGAA 0.473000 7 41 0 0 8.12818e-05 0 0 SFSWAP 6433 broad.mit.edu 37 12 132238982 132238982 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:132238982C>T ENST00000261674.4 + 9 1533 c.1392C>T c.(1390-1392)gcC>gcT p.A464A SFSWAP_ENST00000541286.1_Silent_p.A464A NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 464 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 ACAAGCTGGCCGAGTATGTCG 0.557000 4 33 0 0 0.00024832 0 0 EFTUD1 79631 broad.mit.edu 37 15 82512439 82512439 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:82512439G>T ENST00000268206.7 - 13 1592 c.1424C>A c.(1423-1425)cCa>cAa p.P475Q EFTUD1_ENST00000359445.3_Missense_Mutation_p.P424Q NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 475 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 CTCTCCTTTTGGACATGTTTC 0.493000 11 121 6.31663e-08 2.39387e-06 0.000308642 1 0 NRCAM 4897 broad.mit.edu 37 7 107866736 107866736 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:107866736G>C ENST00000379028.3 - 9 1107 c.637C>G c.(637-639)Cgc>Ggc p.R213G NRCAM_ENST00000425651.2_Missense_Mutation_p.R213G|NRCAM_ENST00000413765.2_Missense_Mutation_p.R213G|NRCAM_ENST00000379022.4_Missense_Mutation_p.R213G|NRCAM_ENST00000379024.4_Missense_Mutation_p.R213G|NRCAM_ENST00000351718.4_Missense_Mutation_p.R207G Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 213 Ig-like 2. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 TAGTCTTCGCGGGTGTCCTCT 0.423000 4 154 0 0 1.23904e-05 0 0 CHD8 57680 broad.mit.edu 37 14 21874023 21874023 + Splice_Site SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:21874023C>A ENST00000399982.2 - 14 2972 c.2907_splice c.e14-1 p.E970_splice CHD8_ENST00000557364.1_Splice_Site_p.E970_splice|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Splice_Site_p.E691_splice NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 970 Helicase ATP-binding. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) ACCTTGTGTTCCTAGAAATGG 0.338000 18 32 9.16793e-09 3.57043e-07 5.01169e-05 1 0 CLSTN2 64084 broad.mit.edu 37 3 140251222 140251222 + Silent SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:140251222C>A ENST00000458420.3 + 9 1591 c.1401C>A c.(1399-1401)acC>acA p.T467T NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 467 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CTGTGGTAACCTTATACATGG 0.413000 HNSCC(16;0.037) 17 124 5.35267e-07 1.96515e-05 9.7654e-05 1 0 OR11L1 391189 broad.mit.edu 37 1 248004731 248004731 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:248004731G>A ENST00000355784.2 - 1 523 c.468C>T c.(466-468)ggC>ggT p.G156G NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGGCAGAAAGCCTGTGCTGA 0.577000 11 48 0 0 0.000308642 0 0 PTPRH 5794 broad.mit.edu 37 19 55718094 55718094 + Silent SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:55718094T>A ENST00000376350.3 - 3 337 c.315A>T c.(313-315)ggA>ggT p.G105G PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Silent_p.G105G NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 105 Fibronectin type-III 1. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGCTATTTACTCCGTCTTTCT 0.498000 14 80 0 0 5.01169e-05 0 0 ASGR2 433 broad.mit.edu 37 17 7017444 7017444 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:7017444A>G ENST00000380952.2 - 2 380 c.116T>C c.(115-117)tTt>tCt p.F39S ASGR2_ENST00000446679.2_Intron|ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000355035.5_Missense_Mutation_p.F39S NM_001181.4|NM_001201352.1|NM_080912.3 NP_001172.1|NP_001188281.1|NP_550434.1 P07307 ASGR2_HUMAN asialoglycoprotein receptor 2 39 cell surface receptor linked signaling pathway|endocytosis focal adhesion|integral to membrane|nucleolus asialoglycoprotein receptor activity|protein binding|sugar binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4) 18 Antihemophilic Factor(DB00025) GCCTTTCAAAAATGGATTTCC 0.537000 10 46 0 0 6.40141e-05 0 0 SEMA3E 9723 broad.mit.edu 37 7 83035320 83035320 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:83035320G>C ENST00000307792.3 - 8 1336 c.869C>G c.(868-870)gCg>gGg p.A290G SEMA3E_ENST00000427262.1_Missense_Mutation_p.A230G NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 290 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) AACGAGTCTCGCTTTTAGGAA 0.348000 6 154 0 0 0.000157383 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209200049 209200049 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:209200049C>T ENST00000264380.4 + 25 4320 c.4162C>T c.(4162-4164)Ctt>Ttt p.L1388F PIKFYVE_ENST00000474721.1_3'UTR NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1388 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CATTCGGCTTCTTGAAGTATG 0.363000 71 134 0 0 0.000147903 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135423 32135423 + Nonsense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:32135423A>T ENST00000312561.4 + 4 1948 c.1534A>T c.(1534-1536)Aag>Tag p.K512* KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CTATTCTGAAAAGCGGCCAAT 0.388000 10 55 0 0 3.86212e-05 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Splice_Site SNP C C A rs55863639 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:7579312C>A ENST00000420246.2 - 4 507 c.375_splice c.e4+1 p.T125_splice TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 125 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> 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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537000 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) 15 25 2.94398e-08 1.12783e-06 9.7654e-05 1 0 PCDHA5 56143 broad.mit.edu 37 5 140202711 140202711 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:140202711G>A ENST00000529859.1 + 1 1351 c.1351G>A c.(1351-1353)Gct>Act p.A451T PCDHA5_ENST00000378126.3_Missense_Mutation_p.A451T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A451T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACAACGCTCCGGCGTT 0.667000 11 23 0 0 0.000151284 0 0 NELFCD 51497 broad.mit.edu 37 20 57564012 57564012 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr20:57564012G>C ENST00000602795.1 + 5 542 c.494G>C c.(493-495)cGg>cCg p.R165P NELFCD_ENST00000344018.3_Missense_Mutation_p.R156P negative elongation factor complex member C/D ACCACGTGGCGGGACCTTTTT 0.478000 3 46 0 0 0.00024832 0 0 PIK3CA 5290 broad.mit.edu 37 3 178948153 178948153 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:178948153A>T ENST00000263967.3 + 20 3082 c.2925A>T c.(2923-2925)agA>agT p.R975S NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 975 PI3K/PI4K. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CAAAGACAAGAGAATTTGAGA 0.323000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 12 245 0 0 0.000219431 0 0 RNF213 57674 broad.mit.edu 37 17 78319551 78319551 + Silent SNP C C T rs143772929 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:78319551C>T ENST00000582970.1 + 29 7559 c.7416C>T c.(7414-7416)ttC>ttT p.F2472F RNF213_ENST00000508628.2_Silent_p.F2521F|RNF213_ENST00000336301.6_Silent_p.F545F NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATGTGGCCTTCGCCAATAAGG 0.463000 12 50 0 0 0.000151284 0 0 GRIP1 23426 broad.mit.edu 37 12 66770984 66770984 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:66770984G>A ENST00000359742.4 - 21 2943 c.2703C>T c.(2701-2703)tgC>tgT p.C901C GRIP1_ENST00000398016.3_Silent_p.C849C|GRIP1_ENST00000286445.7_Silent_p.C901C Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 901 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CTGACTGTCCGCAGGTTTCCA 0.443000 37 166 0 0 0.000270559 0 0 SORCS1 114815 broad.mit.edu 37 10 108469071 108469071 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:108469071C>A ENST00000263054.6 - 7 1060 c.1053G>T c.(1051-1053)caG>caT p.Q351H SORCS1_ENST00000344440.6_Missense_Mutation_p.Q351H NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 351 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) CTGTACAGTTCTGCATTCGGC 0.403000 16 56 2.4624e-09 9.64302e-08 0.000132079 1 0 FASTKD2 22868 broad.mit.edu 37 2 207651558 207651558 + Missense_Mutation SNP A A T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:207651558A>T ENST00000236980.6 + 8 1877 c.1529A>T c.(1528-1530)tAc>tTc p.Y510F FASTKD2_ENST00000403094.3_Missense_Mutation_p.Y510F|FASTKD2_ENST00000402774.3_Missense_Mutation_p.Y510F NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 510 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) TTGATGAATTACTTTCCCCTG 0.403000 35 80 0 0 0.000228196 0 0 HSPB9 94086 broad.mit.edu 37 17 40275302 40275302 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:40275302C>T ENST00000355067.3 + 1 547 c.434C>T c.(433-435)cCg>cTg p.P145L CTD-2132N18.3_ENST00000592574.1_Intron NM_033194.2 NP_149971.1 Q9BQS6 HSPB9_HUMAN heat shock protein, alpha-crystallin-related, B9 145 response to stress cytoplasm|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) GGACCGTCCCCGAGACTCGGG 0.637000 9 26 0 0 2.17888e-05 0 0 ATP13A4 84239 broad.mit.edu 37 3 193166098 193166098 + Silent SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:193166098C>G ENST00000342695.4 - 18 2371 c.2049G>C c.(2047-2049)ctG>ctC p.L683L ATP13A4_ENST00000392443.3_Silent_p.L664L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 683 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCAGAAATATCAGGTCTGATT 0.408000 33 97 0 0 0.000132358 0 0 ZNF229 7772 broad.mit.edu 37 19 44934288 44934288 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:44934288C>G ENST00000291187.4 - 6 972 c.650G>C c.(649-651)tGc>tCc p.C217S ZNF229_ENST00000588931.1_Missense_Mutation_p.C223S|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGATATCCAGCAAAAGCTGTC 0.378000 5 94 0 0 3.59834e-05 0 0 KCNH8 131096 broad.mit.edu 37 3 19498349 19498349 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:19498349C>A ENST00000328405.2 + 11 2181 c.1915C>A c.(1915-1917)Ctc>Atc p.L639I NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 639 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 CTACTGTGATCTCCAGTGTAT 0.403000 21 50 5.26018e-13 2.08309e-11 0.000229342 1 0 CEP85L 387119 broad.mit.edu 37 6 118790380 118790380 + Silent SNP T T C rs77465615 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr6:118790380T>C ENST00000368491.3 - 12 2730 c.2109A>G c.(2107-2109)aaA>aaG p.K703K CEP85L_ENST00000368488.5_Silent_p.K706K NM_001042475.2 NP_001035940.1 Q5SZL2 CF204_HUMAN centrosomal protein 85kDa-like 703 centrosome ATAGTGGCCGTTTGGAAAGAA 0.418000 30 99 0 0 7.24521e-05 0 0 TGM7 116179 broad.mit.edu 37 15 43585695 43585695 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:43585695G>T ENST00000452443.2 - 2 149 c.145C>A c.(145-147)Cga>Aga p.R49R NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 49 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-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;9.14e-07) L-Glutamine(DB00130) TGGAAGGGTCGGCTGAAGCTC 0.617000 27 56 1.38267e-23 5.66653e-22 0.000117367 1 0 PLAA 9373 broad.mit.edu 37 9 26905576 26905576 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:26905576T>A ENST00000397292.3 - 14 2738 c.2321A>T c.(2320-2322)aAg>aTg p.K774M NM_001031689.2 NP_001026859.1 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 774 PUL. phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) TGAGGAATACTTTTTTATTTG 0.368000 24 98 0 0 5.49717e-05 0 0 FLNC 2318 broad.mit.edu 37 7 128492757 128492757 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:128492757G>A ENST00000325888.8 + 36 6216 c.5955G>A c.(5953-5955)tcG>tcA p.S1985S RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.S1952S NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1985 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTGCCCCCTCGGGCAACGAGG 0.657000 6 22 0 0 0.000157383 0 0 CPED1 79974 broad.mit.edu 37 7 120629688 120629688 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:120629688C>G ENST00000310396.5 + 2 480 c.13C>G c.(13-15)Cca>Gca p.P5A CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.P5A|CPED1_ENST00000450913.2_Missense_Mutation_p.P5A NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 GGTCTGTCGCCCAGTGTTCCC 0.522000 10 59 0 0 6.40141e-05 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966845 41966845 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:41966845C>A ENST00000298919.7 + 10 1872 c.1484C>A c.(1483-1485)tCc>tAc p.S495Y PDZRN4_ENST00000539469.2_Missense_Mutation_p.S497Y|PDZRN4_ENST00000402685.2_Missense_Mutation_p.S755Y Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 755 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) GTAGACCGTTCCCCTGACAGT 0.498000 8 35 1.12685e-05 0.000393226 0.000274275 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147183067 147183067 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:147183067C>G ENST00000361727.3 + 11 2227 c.1711C>G c.(1711-1713)Caa>Gaa p.Q571E NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 571 EGF-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAAGTGCTCGCAAACATGGGA 0.443000 HNSCC(39;0.1) 17 77 0 0 9.7654e-05 0 0 MIR519E 574463 broad.mit.edu 37 19 54183211 54183211 + RNA SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:54183211C>A ENST00000385075.1 + 0 18 NR_030185.1 CAGTCATTCTCCAAAAGGGAG 0.373000 13 66 7.93312e-07 2.89744e-05 0.000219431 1 0 MPDZ 8777 broad.mit.edu 37 9 13247788 13247788 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:13247788G>T ENST00000319217.7 - 3 276 c.29C>A c.(28-30)gCc>gAc p.A10D MPDZ_ENST00000381015.4_Missense_Mutation_p.A10D|MPDZ_ENST00000447879.1_Missense_Mutation_p.A10D|MPDZ_ENST00000546205.1_Missense_Mutation_p.A10D|MPDZ_ENST00000536827.1_Missense_Mutation_p.A10D|MPDZ_ENST00000541718.1_Missense_Mutation_p.A10D|MPDZ_ENST00000381022.2_Missense_Mutation_p.A10D NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 10 L27. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TGCATGCAGGGCCCGATTTTT 0.468000 8 200 0.000274275 0.0086698 0.000274275 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455231 187455231 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:187455231T>A ENST00000307161.5 - 2 866 c.665A>T c.(664-666)aAa>aTa p.K222I RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 222 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GCGGTCAGGTTTCACCCTCTG 0.478000 14 78 0 0 3.45872e-05 0 0 SLC35G5 83650 broad.mit.edu 37 8 11189001 11189001 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:11189001A>G ENST00000382435.4 + 1 605 c.386A>G c.(385-387)aAc>aGc p.N129S NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 129 DUF6 1. integral to membrane CCCGCTGGCAACGCTGCCACT 0.612000 13 57 0 0 0.000151284 0 0 BRINP2 57795 broad.mit.edu 37 1 177250578 177250578 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:177250578G>T ENST00000361539.4 + 8 2578 c.2266G>T c.(2266-2268)Gtg>Ttg p.V756L FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 756 extracellular region p.V756M(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CAACAATGAGGTGGGCAGGAT 0.557000 5 42 1.024e-07 3.85999e-06 1.23904e-05 1 0 RHBDL3 162494 broad.mit.edu 37 17 30621436 30621436 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:30621436C>A ENST00000269051.4 + 5 657 c.643C>A c.(643-645)Ctg>Atg p.L215M RHBDL3_ENST00000538145.1_Missense_Mutation_p.L207M|RHBDL3_ENST00000536287.1_Missense_Mutation_p.L117M NM_138328.2 NP_612201.1 P58872 RHBL3_HUMAN rhomboid, veinlet-like 3 (Drosophila) 215 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) TTGGCGCTACCTGACATACAT 0.463000 9 36 1.12685e-05 0.000393226 0.000274275 1 0 NFIB 4781 broad.mit.edu 37 9 14146797 14146797 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:14146797G>T ENST00000380959.3 - 6 1289 c.816C>A c.(814-816)ccC>ccA p.P272P NFIB_ENST00000380953.1_Silent_p.P272P|NFIB_ENST00000397579.2_Silent_p.P272P|NFIB_ENST00000380934.4_Silent_p.P298P|NFIB_ENST00000397581.2_Silent_p.P272P|NFIB_ENST00000380924.1_Silent_p.P20P|NFIB_ENST00000397575.3_Silent_p.P272P|NFIB_ENST00000543693.1_Silent_p.P20P NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 272 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) ATATAGTTTTGGGTCTTTTGC 0.378000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 10 223 0.00010058 0.00336013 0.00010058 1 0 NKAPL 222698 broad.mit.edu 37 6 28227756 28227756 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr6:28227756G>C ENST00000343684.3 + 1 659 c.607G>C c.(607-609)Gat>Cat p.D203H NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 203 Lys-rich. breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GAAATATTCTGATAGTGACAG 0.333000 19 51 0 0 0.000375601 0 0 COPZ1 22818 broad.mit.edu 37 12 54744287 54744287 + Missense_Mutation SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:54744287A>G ENST00000262061.2 + 9 551 c.514A>G c.(514-516)Aag>Gag p.K172E COPZ1_ENST00000455864.2_Missense_Mutation_p.K149E|COPZ1_ENST00000416254.2_Missense_Mutation_p.K121E|COPZ1_ENST00000549043.1_Missense_Mutation_p.K180E|COPZ1_ENST00000552362.1_Missense_Mutation_p.K155E|COPZ1_ENST00000552218.1_Missense_Mutation_p.K193E|COPZ1_ENST00000549116.1_Missense_Mutation_p.K114E|COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000548753.1_Missense_Mutation_p.K84E|COPZ1_ENST00000548281.1_3'UTR NM_001271734.1|NM_001271736.1|NM_016057.1 NP_001258663.1|NP_001258665.1|NP_057141.1 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 172 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 AGAACAGATCAAGTGGTCACT 0.493000 8 112 0 0 0.00010058 0 0 SRSF4 6429 broad.mit.edu 37 1 29475099 29475099 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:29475099G>T ENST00000373795.4 - 6 1542 c.1308C>A c.(1306-1308)acC>acA p.T436T SRSF4_ENST00000546138.1_3'UTR NM_005626.4 NP_005617.2 Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 436 Arg/Ser-rich (RS domain). TNQ -> RNE (in Ref. 1; AAA36649). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 TCTCCTGATTGGTGCCAGCAT 0.522000 9 134 4.68919e-08 1.78671e-06 3.86212e-05 1 0 ZNF649 65251 broad.mit.edu 37 19 52394790 52394790 + Missense_Mutation SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:52394790T>C ENST00000354957.3 - 5 883 c.599A>G c.(598-600)cAt>cGt p.H200R ZNF649_ENST00000600738.1_Missense_Mutation_p.H200R|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTTTCCTGTATGAATTCTCTT 0.463000 11 45 0 0 3.86212e-05 0 0 PRH1 5554 broad.mit.edu 37 12 11035684 11035684 + Nonsense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:11035684C>A ENST00000428168.2 - 2 113 c.76G>T c.(76-78)Gaa>Taa p.E26* PRR4_ENST00000536668.1_5'UTR NM_006250.3 NP_006241.2 P02810 PRPC_HUMAN proline-rich protein HaeIII subfamily 1 26 Inhibits hydroxyapatite formation, binds to hydroxyapatite and calcium. extracellular space protein binding endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(232;0.245) GGAACATCTTCCTGGCTGACA 0.398000 15 54 2.94398e-08 1.12783e-06 9.7654e-05 1 0 COX10 1352 broad.mit.edu 37 17 14005488 14005488 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:14005488G>T ENST00000261643.3 + 4 630 c.553G>T c.(553-555)Gac>Tac p.D185Y COX10_ENST00000536205.1_Intron|COX10_ENST00000537334.1_5'UTR NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 185 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) GGGCCCTTTTGACTGGCCCTG 0.498000 8 110 1.58986e-06 5.74715e-05 3.86212e-05 1 0 COL4A4 1286 broad.mit.edu 37 2 227920692 227920692 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:227920692A>G ENST00000396625.3 - 30 2892 c.2685T>C c.(2683-2685)gaT>gaC p.D895D COL4A4_ENST00000329662.7_Silent_p.D895D NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 895 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GTAGCCCATCATCTCCAAAGG 0.582000 5 18 0 0 1.23904e-05 0 0 NUPL2 11097 broad.mit.edu 37 7 23240136 23240136 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:23240136G>C ENST00000258742.5 + 7 1303 c.1044G>C c.(1042-1044)ccG>ccC p.P348P NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 348 Ser-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTGGTAGTCCGGGCTCACATT 0.507000 4 95 0 0 0.00024832 0 0 NUP98 4928 broad.mit.edu 37 11 3726504 3726504 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:3726504G>A ENST00000324932.7 - 22 3428 c.3008C>T c.(3007-3009)gCa>gTa p.A1003V NUP98_ENST00000355260.3_Missense_Mutation_p.A1003V|NUP98_ENST00000359171.4_Missense_Mutation_p.A1003V NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1020 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGAAGTATCTGCTTTGGAAGG 0.413000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 26 62 0 0 9.22233e-05 0 0 OR5B12 390191 broad.mit.edu 37 11 58206944 58206944 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:58206944G>C ENST00000302572.2 - 1 702 c.681C>G c.(679-681)cgC>cgG p.R227R NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTTCAGGTGAGCGCATCTTCA 0.398000 3 45 0 0 6.4e-05 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76501310 76501310 + Nonsense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:76501310T>A ENST00000307431.8 + 11 1927 c.1542T>A c.(1540-1542)tgT>tgA p.C514* CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.C466*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.C518*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.C442* NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 515 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 TTCAGGGATGTATGAGGCTCA 0.433000 11 25 0 0 6.40141e-05 0 0 PSG7 5676 broad.mit.edu 37 19 43430684 43430684 + RNA SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:43430684G>C ENST00000446844.3 - 0 983 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TCGTGACACTGGGTAGAATGA 0.502000 4 116 0 0 1.23904e-05 0 0 ABCB4 5244 broad.mit.edu 37 7 87069700 87069700 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:87069700C>A ENST00000265723.4 - 13 1486 c.1375G>T c.(1375-1377)Gat>Tat p.D459Y ABCB4_ENST00000359206.3_Missense_Mutation_p.D459Y|ABCB4_ENST00000358400.3_Missense_Mutation_p.D459Y|ABCB4_ENST00000545634.1_Missense_Mutation_p.D459Y|ABCB4_ENST00000453593.1_Missense_Mutation_p.D459Y NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 459 ABC transporter 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTCCTAATATCCTGCCCATCA 0.348000 9 46 5.68852e-11 2.24013e-09 0.000274275 1 0 RBAK 57786 broad.mit.edu 37 7 5103754 5103754 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:5103754C>G ENST00000396912.1 + 5 1186 c.667C>G c.(667-669)Cat>Gat p.H223D RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.H223D NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 223 Required for interaction with RB1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TTTTATTGCTCATAAGAGAGC 0.348000 12 45 0 0 0.00010058 0 0 MUC17 140453 broad.mit.edu 37 7 100681270 100681270 + Silent SNP T T C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:100681270T>C ENST00000306151.4 + 3 6637 c.6573T>C c.(6571-6573)ccT>ccC p.P2191P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2191 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCAGCACACCTGTGACCAATT 0.483000 21 192 0 0 0.000375601 0 0 MOK 5891 broad.mit.edu 37 14 102717262 102717262 + Silent SNP C C G rs142858806 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:102717262C>G ENST00000361847.2 - 7 708 c.477G>C c.(475-477)acG>acC p.T159T MOK_ENST00000524214.1_Silent_p.T129T|MOK_ENST00000522874.1_Silent_p.T158T|MOK_ENST00000193029.6_5'UTR NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 159 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding AGATGTATTCCGTGTACGGCT 0.557000 3 49 0 0 0.00024832 0 0 TUSC3 7991 broad.mit.edu 37 8 15519695 15519695 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:15519695G>T ENST00000382020.4 + 5 806 c.598G>T c.(598-600)Ggt>Tgt p.G200C TUSC3_ENST00000503731.1_Missense_Mutation_p.G200C|TUSC3_ENST00000506802.1_Missense_Mutation_p.G200C|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Missense_Mutation_p.G200C NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 200 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) CAACTACTCTGGTACCATTGC 0.368000 8 117 0.000274275 0.0086698 0.000274275 1 0 MON2 23041 broad.mit.edu 37 12 62938684 62938684 + Nonsense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:62938684C>T ENST00000393630.3 + 22 2867 c.2476C>T c.(2476-2478)Cag>Tag p.Q826* MON2_ENST00000393629.2_Nonsense_Mutation_p.Q825*|MON2_ENST00000552738.1_Nonsense_Mutation_p.Q802*|MON2_ENST00000393632.2_Nonsense_Mutation_p.Q825*|MON2_ENST00000552115.1_Nonsense_Mutation_p.Q825*|MON2_ENST00000280379.6_Nonsense_Mutation_p.Q826*|MON2_ENST00000546600.1_Nonsense_Mutation_p.Q825* NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 826 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TCAGGTCTGCCAGCATCCAAA 0.333000 12 40 0 0 0.00010058 0 0 SLC22A5 6584 broad.mit.edu 37 5 131714117 131714117 + Silent SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:131714117C>T ENST00000245407.3 + 2 662 c.441C>T c.(439-441)tcC>tcT p.S147S SLC22A5_ENST00000435065.2_Silent_p.S171S NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 147 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TCACAATCTCCTTGTTCTTCG 0.507000 18 117 0 0 0.000295444 0 0 ANPEP 290 broad.mit.edu 37 15 90347556 90347556 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr15:90347556G>A ENST00000300060.6 - 6 1420 c.1107C>T c.(1105-1107)ttC>ttT p.F369F NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 369 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) ACAGGGGGTCGAACAGCAGGG 0.632000 7 28 0 0 0.000274275 0 0 SLC35F2 54733 broad.mit.edu 37 11 107682478 107682478 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:107682478T>A ENST00000525071.1 - 6 917 c.329A>T c.(328-330)aAg>aTg p.K110M SLC35F2_ENST00000525815.1_Missense_Mutation_p.K110M|SLC35F2_ENST00000265836.7_De_novo_Start_InFrame|SLC35F2_ENST00000375682.4_Missense_Mutation_p.K63M|SLC35F2_ENST00000429869.1_Missense_Mutation_p.K110M Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 110 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CAGGATGTACTTCCACCATTT 0.418000 33 122 0 0 0.000228196 0 0 PADI2 11240 broad.mit.edu 37 1 17422438 17422438 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:17422438C>G ENST00000375486.4 - 4 440 c.377G>C c.(376-378)cGg>cCg p.R126P PADI2_ENST00000375481.1_Missense_Mutation_p.R126P|PADI2_ENST00000444885.2_Missense_Mutation_p.R126P NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 126 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CACACCATCCCGGTCTGCGTC 0.612000 3 50 0 0 6.4e-05 0 0 PLVAP 83483 broad.mit.edu 37 19 17476149 17476149 + Silent SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:17476149G>T ENST00000252590.4 - 3 1186 c.1125C>A c.(1123-1125)ctC>ctA p.L375L NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 375 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCTCCATCCTGAGCTGCTCCG 0.617000 15 40 8.00594e-06 0.00028502 9.7654e-05 1 0 STXBP4 252983 broad.mit.edu 37 17 53084882 53084882 + Missense_Mutation SNP G G T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:53084882G>T ENST00000376352.2 + 8 797 c.590G>T c.(589-591)tGg>tTg p.W197L STXBP4_ENST00000299341.4_Missense_Mutation_p.W122L|STXBP4_ENST00000398391.2_Missense_Mutation_p.W122L|STXBP4_ENST00000405898.1_Missense_Mutation_p.W197L|STXBP4_ENST00000434978.2_Missense_Mutation_p.W197L NM_178509.5 NP_848604.3 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 197 cytoplasm calcium ion binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 GCTTCTGCCTGGACTGAAAAT 0.368000 13 427 1.49906e-05 0.000520535 0.000219431 1 0 MUC16 94025 broad.mit.edu 37 19 9069845 9069845 + Silent SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:9069845A>G ENST00000397910.4 - 3 17804 c.17601T>C c.(17599-17601)ccT>ccC p.P5867P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5869 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 TAGTCCCTATAGGACCTGTTT 0.493000 3 79 0 0 6.4e-05 0 0 CNTRL 11064 broad.mit.edu 37 9 123911032 123911032 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:123911032G>A ENST00000373855.1 + 24 3802 c.3542G>A c.(3541-3543)cGc>cAc p.R1181H CNTRL_ENST00000373847.1_Missense_Mutation_p.R629H|CNTRL_ENST00000373850.1_Missense_Mutation_p.R629H|CNTRL_ENST00000238341.5_Missense_Mutation_p.R1181H Q7Z7A1 CNTRL_HUMAN centriolin 1181 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 AGAAAACCACGCCCTGGGCAG 0.512000 11 56 0 0 0.00010058 0 0 XIRP2 129446 broad.mit.edu 37 2 168107879 168107879 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:168107879T>A ENST00000409195.1 + 9 10066 c.9977T>A c.(9976-9978)gTg>gAg p.V3326E XIRP2_ENST00000409273.1_Missense_Mutation_p.V3104E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V3326E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3151 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAAATTTCGTGAATGACCCT 0.443000 7 78 0 0 0.000157383 0 0 PTS 5805 broad.mit.edu 37 11 112101363 112101363 + Silent SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:112101363G>C ENST00000280362.3 + 4 280 c.201G>C c.(199-201)acG>acC p.T67T PTS_ENST00000525803.1_Intron|PTS_ENST00000524931.1_5'UTR NM_000317.2 NP_000308.1 Q03393 PTPS_HUMAN 6-pyruvoyltetrahydropterin synthase 67 T -> M (in HPABH4A). cellular amino acid metabolic process|central nervous system development|tetrahydrobiopterin biosynthetic process mitochondrion 6-pyruvoyltetrahydropterin synthase activity|metal ion binding breast(1)|large_intestine(1) 2 all_cancers(61;2.51e-14)|all_epithelial(67;1.64e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.27e-06)|BRCA - Breast invasive adenocarcinoma(274;1.43e-06)|all cancers(92;2.1e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0519) ACCCTGCTACGGGAATGGTTA 0.383000 3 77 0 0 0.00024832 0 0 PEG3 5178 broad.mit.edu 37 19 57328305 57328305 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:57328305C>T ENST00000326441.9 - 10 1868 c.1505G>A c.(1504-1506)gGg>gAg p.G502E PEG3_ENST00000598410.1_Missense_Mutation_p.G378E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G376E|PEG3_ENST00000423103.2_Missense_Mutation_p.G502E|ZIM2_ENST00000221722.5_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 502 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AAAACGTTTCCCTCCAACCTG 0.453000 15 83 0 0 0.000132079 0 0 RGL1 23179 broad.mit.edu 37 1 183895366 183895366 + Silent SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:183895366G>A ENST00000304685.3 + 19 2813 c.2352G>A c.(2350-2352)acG>acA p.T784T RGL1_ENST00000367531.1_Silent_p.T784T|RGL1_ENST00000360851.3_Silent_p.T749T|RGL1_ENST00000536277.1_Silent_p.T747T|RGL1_ENST00000539189.1_Silent_p.T720T NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 749 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CCAGCTTGACGTTGCCCAGGA 0.502000 23 32 0 0 5.49717e-05 0 0 CDH11 1009 broad.mit.edu 37 16 65005485 65005485 + Nonsense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr16:65005485G>A ENST00000394156.3 - 11 2092 c.1639C>T c.(1639-1641)Cga>Tga p.R547* CDH11_ENST00000566827.1_Nonsense_Mutation_p.R421*|CDH11_ENST00000268603.4_Nonsense_Mutation_p.R547* P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 547 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.R547G(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TACAAACCTCGGTTGTCTCTG 0.398000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 10 50 0 0 6.40141e-05 0 0 AHNAK 79026 broad.mit.edu 37 11 62287710 62287710 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr11:62287710C>T ENST00000378024.4 - 5 14453 c.14179G>A c.(14179-14181)Gac>Aac p.D4727N AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4727 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGTTTAAGTCAATATCAGGC 0.498000 12 117 0 0 0.000151284 0 0 PEX2 5828 broad.mit.edu 37 8 77896369 77896369 + Nonsense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr8:77896369T>A ENST00000419564.2 - 4 510 c.46A>T c.(46-48)Aga>Tga p.R16* PEX2_ENST00000357039.4_Nonsense_Mutation_p.R16*|PEX2_ENST00000520103.1_Nonsense_Mutation_p.R16*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.R16* NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 16 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 TGGCTTATTCTTAGCACTCTG 0.423000 14 104 0 0 7.07596e-05 0 0 NR0B1 190 broad.mit.edu 37 X 30322942 30322942 + Splice_Site SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:30322942T>A ENST00000378970.4 - 2 1403 c.e2-2 NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) CCGGCACGTCTGGAGGGAGAA 0.473000 5 7 0 0 1.23904e-05 0 0 TFB1M 51106 broad.mit.edu 37 6 155632378 155632378 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr6:155632378C>A ENST00000367166.4 - 2 284 c.229G>T c.(229-231)Gac>Tac p.D77Y TFB1M_ENST00000480390.1_5'UTR NM_016020.3 NP_057104.2 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) TCAGCGACGTCGGCATTAAGA 0.438000 22 61 1.96895e-08 7.62589e-07 0.000375601 1 0 FRMPD2 143162 broad.mit.edu 37 10 49409355 49409355 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:49409355T>A ENST00000374201.3 - 15 2172 c.1870A>T c.(1870-1872)Agt>Tgt p.S624C FRMPD2_ENST00000305531.3_Missense_Mutation_p.S599C|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S592C NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 624 FERM. S -> G (in Ref. 3; CAH18097). tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AAGTATTTACTGGTCTTGGCT 0.448000 9 73 0 0 3.86212e-05 0 0 CPS1 1373 broad.mit.edu 37 2 211539654 211539654 + Missense_Mutation SNP T T A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr2:211539654T>A ENST00000233072.5 + 35 4326 c.4130T>A c.(4129-4131)gTg>gAg p.V1377E CPS1_ENST00000451903.2_Missense_Mutation_p.V926E|CPS1_ENST00000430249.2_Missense_Mutation_p.V1383E NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1377 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCCTTGGTGTGGCTGAACAA 0.343000 18 121 0 0 0.000229342 0 0 GPRASP2 114928 broad.mit.edu 37 X 101969805 101969805 + Missense_Mutation SNP G G C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrX:101969805G>C ENST00000543253.1 + 5 927 c.8G>C c.(7-9)gGg>gCg p.G3A GPRASP2_ENST00000535209.1_Missense_Mutation_p.G3A|GPRASP2_ENST00000332262.5_Missense_Mutation_p.G3A NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 accatgactGGGGCAGAGATT 0.498000 3 39 0 0 6.4e-05 0 0 COL16A1 1307 broad.mit.edu 37 1 32165642 32165642 + Splice_Site SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:32165642C>T ENST00000373672.3 - 3 664 c.148_splice c.e3+1 p.G50_splice COL16A1_ENST00000373668.3_Splice_Site_p.G50_splice|COL16A1_ENST00000271069.6_Splice_Site_p.G50_splice NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 50 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GGGTGCTCACCAGTCACGTTG 0.572000 11 21 0 0 0.000151284 0 0 GSC 145258 broad.mit.edu 37 14 95234883 95234883 + Missense_Mutation SNP G G A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr14:95234883G>A ENST00000238558.3 - 3 928 c.719C>T c.(718-720)gCg>gTg p.A240V NM_173849.2 NP_776248.1 P56915 GSC_HUMAN goosecoid homeobox 240 gastrulation|middle ear morphogenesis sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 all_cancers(154;0.0896)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239) CTCCGGTGACGCCTTCGACGA 0.572000 13 105 0 0 0.000219431 0 0 VWF 7450 broad.mit.edu 37 12 6220090 6220090 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr12:6220090C>A ENST00000261405.5 - 4 519 c.265G>T c.(265-267)Ggg>Tgg p.G89W VWF_ENST00000572068.1_Missense_Mutation_p.G126W NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 89 VWFD 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AAAAATTCCCCAAGATACACG 0.428000 7 81 0.000274275 0.0086698 0.000274275 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 64 0 0 3.59834e-05 0 0 SORCS1 114815 broad.mit.edu 37 10 108469072 108469072 + Missense_Mutation SNP T T G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:108469072T>G ENST00000263054.6 - 7 1059 c.1052A>C c.(1051-1053)cAg>cCg p.Q351P SORCS1_ENST00000344440.6_Missense_Mutation_p.Q351P NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 351 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) TGTACAGTTCTGCATTCGGCA 0.408000 15 56 0 0 9.7654e-05 0 0 XIRP1 165904 broad.mit.edu 37 3 39227609 39227609 + Missense_Mutation SNP C C A TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:39227609C>A ENST00000340369.3 - 2 3556 c.3328G>T c.(3328-3330)Gat>Tat p.D1110Y XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.D1110Y NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1110 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) ATCCGGGGATCACTTCCACCC 0.607000 12 28 6.40141e-05 0.00219046 6.40141e-05 1 0 ELAVL2 1993 broad.mit.edu 37 9 23704954 23704954 + Missense_Mutation SNP C C G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr9:23704954C>G ENST00000397312.2 - 4 723 c.449G>C c.(448-450)cGc>cCc p.R150P ELAVL2_ENST00000380110.4_Missense_Mutation_p.R179P|ELAVL2_ENST00000380117.1_Missense_Mutation_p.R150P|ELAVL2_ENST00000223951.6_Missense_Mutation_p.R150P|ELAVL2_ENST00000544538.1_Missense_Mutation_p.R150P NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 150 RRM 2. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AGTAATAATGCGTCCATATTG 0.423000 9 120 0 0 0.000274275 0 0 YWHAG 7532 broad.mit.edu 37 7 75958917 75958917 + Missense_Mutation SNP C C T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr7:75958917C>T ENST00000307630.3 - 2 943 c.721G>A c.(721-723)Gat>Aat p.D241N NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 241 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 TCGCCGCCATCGTCGTCCTGC 0.587000 8 8 0 0 0.000274275 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200822401 200822401 + Splice_Site SNP A A G TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:200822401A>G ENST00000358823.2 + 13 3872 c.e13-1 CAMSAP2_ENST00000413307.2_Splice_Site|CAMSAP2_ENST00000236925.4_Splice_Site NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 cytoplasm|microtubule protein binding TTGATTTCTTAGGCGTAAAAC 0.358000 3 109 0 0 0.00024832 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr1:74575212_74575213insT ENST00000354431.4 - 5 923_924 c.732_733insA c.(730-735)aaagcafs p.A245fs LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTTTCCTGCTGTTTTTTTTTGT 0.327 7 132 --- --- --- --- SEMA3F 6405 broad.mit.edu 37 3 50212549 50212549 + Frame_Shift_Del DEL T T - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr3:50212549delT ENST00000002829.3 + 6 961 c.477delT c.(475-477)acfs p.T159fs SEMA3F_ENST00000413852.1_Intron|SEMA3F_ENST00000434342.1_Intron NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 159 Sema. Missing (in Ref. 2). axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GGACCCAGACTCAGGCGGTCA 0.697 2 4 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815896 + RNA DEL AA AA - rs145239076 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:19815895_19815896delAA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaaa 0.411 2 4 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 7 300 --- --- --- --- FABP6 2172 broad.mit.edu 37 5 159659192 159659192 + Frame_Shift_Del DEL A A - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr5:159659192delA ENST00000393980.4 + 5 448 c.302delA c.(301-303)cgfs p.Q101fs FABP6_ENST00000393982.1_Frame_Shift_Del_p.Q101fs|FABP6_ENST00000402432.3_Frame_Shift_Del_p.Q52fs NM_001130958.1 NP_001124430.1 P51161 FABP6_HUMAN fatty acid binding protein 6, ileal 52 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity breast(1)|kidney(1)|large_intestine(1)|lung(2) 5 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTTGGTCCCAGCACTACTCC 0.567 2 4 --- --- --- --- UPF2 26019 broad.mit.edu 37 10 12001252 12001253 + Frame_Shift_Ins INS - - T TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr10:12001252_12001253insT ENST00000356352.2 - 11 2760_2761 c.2287_2288insA c.(2287-2289)cgtfs p.R763fs UPF2_ENST00000357604.5_Frame_Shift_Ins_p.R763fs|UPF2_ENST00000397053.2_Frame_Shift_Ins_p.R763fs Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 763 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) CTTTTTCACGGTTTTTTCAGCT 0.416 17 115 --- --- --- --- SOCS7 30837 broad.mit.edu 37 17 36508743 36508743 + Frame_Shift_Del DEL C C - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr17:36508743delC ENST00000577233.1 + 1 616 c.616delC c.(616-618)ggfs p.R206fs SOCS7_ENST00000331159.5_Frame_Shift_Del_p.R206fs NM_014598.2 NP_055413.1 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 206 Mediates interaction with SORBS3. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5) 9 Breast(7;3.47e-17) GGGTCCTTCTCGGAAGGGCTC 0.697 2 4 --- --- --- --- SIN3B 23309 broad.mit.edu 37 19 16977273 16977273 + Frame_Shift_Del DEL C C - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:16977273delC ENST00000379803.1 + 13 1822 c.1808delC c.(1807-1809)tcfs p.S603fs SIN3B_ENST00000595541.1_Frame_Shift_Del_p.S161fs|SIN3B_ENST00000248054.5_Frame_Shift_Del_p.S571fs NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 603 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 TACCTCAAGTCCCTTGACCAC 0.587 8 26 --- --- --- --- ZNF784 147808 broad.mit.edu 37 19 56133788 56133789 + Frame_Shift_Ins INS - - C TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr19:56133788_56133789insC ENST00000325351.4 - 2 339_340 c.300_301insG c.(298-303)ccgccgfs p.P101fs ZNF784_ENST00000591479.1_3'UTR NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S101fs*140(1) upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TGGCACCGGCTCGGGTCCCCAC 0.728 3 4 --- --- --- --- IGLV3-12 28802 broad.mit.edu 37 22 23114748 23114749 + RNA INS - - T rs58165270 TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chr22:23114748_23114749insT ENST00000390313.2 + 0 55 CCATCCTCTCCTTTTTTTTTTT 0.495 6 10 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-CN-6010-01A-11D-1683-08 TCGA-CN-6010-10A-01D-1683-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d9693f3-0917-42be-97b8-4dc15cc4d3f6 0aca8971-6bab-418e-a861-c266e085532e g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 2 4 --- --- --- ---