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 PARP3 10039 broad.mit.edu 37 3 51979165 51979165 + Silent SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr3:51979165G>A ENST00000417220.2 + 7 1274 c.786G>A c.(784-786)ccG>ccA p.P262P PARP3_ENST00000431474.1_Silent_p.P262P|PARP3_ENST00000398755.3_Silent_p.P269P Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 262 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCGTCATCCCGCACAACTTCG 0.637000 4 126 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815770 158815770 + Missense_Mutation SNP T T G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:158815770T>G ENST00000368141.4 + 5 1225 c.964T>G c.(964-966)Tat>Gat p.Y322D NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 322 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.Y322D(1) NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AACAATGGTGTATGGGTTGTT 0.323000 19 111 0 0 1 0 0 THAP7 80764 broad.mit.edu 37 22 21355011 21355011 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr22:21355011C>T ENST00000215742.4 - 3 476 c.302G>A c.(301-303)cGg>cAg p.R101Q THAP7_ENST00000399133.2_Missense_Mutation_p.R101Q NM_030573.2 NP_085050.2 Q9BT49 THAP7_HUMAN THAP domain containing 7 101 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1) 8 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CTTGGTTGTCCGGCGCAACTT 0.572000 5 255 0 0 1 0 0 OXT 5020 broad.mit.edu 37 20 3052920 3052920 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr20:3052920C>T ENST00000217386.2 + 2 354 c.318C>T c.(316-318)agC>agT p.S106S NM_000915.2 NP_000906.1 P01178 NEU1_HUMAN oxytocin/neurophysin I prepropeptide 106 signal transduction neurohypophyseal hormone activity lung(2) 2 Oxytocin(DB00107) TCTGCTGCAGCCCGGGTGAGC 0.751000 3 26 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132159533 132159533 + Missense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:132159533C>A ENST00000511190.1 - 6 3185 c.2716G>T c.(2716-2718)Gta>Tta p.V906L USP26_ENST00000370832.1_Missense_Mutation_p.V906L|USP26_ENST00000406273.1_Missense_Mutation_p.V906L NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 906 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.V906L(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GTCTCCTCTACCTCCTTGCTA 0.448000 18 99 1.67942e-08 1.8929e-08 1 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144855783 144855783 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:144855783G>A ENST00000369359.4 - 44 7216 c.7178C>T c.(7177-7179)gCg>gTg p.A2393V PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A2151V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A2342V|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A2257V|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2257 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.A2257V(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGGCAGGGCCGCTCTCCAGAA 0.572000 T PDGFRB MPD 4 92 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115300 168115300 + Missense_Mutation SNP A A T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:168115300A>T ENST00000409728.1 + 11 2432 c.2343A>T c.(2341-2343)gaA>gaT p.E781D XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.E748D|XIRP2_ENST00000409756.2_Missense_Mutation_p.E748D|XIRP2_ENST00000420519.1_Missense_Mutation_p.E781D|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.E526D NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding p.E781D(1) 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 ATGAATATGAAATTGAGAAGT 0.333000 9 68 0 0 1 0 0 LOC349160 349160 broad.mit.edu 37 7 136848907 136848907 + RNA SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:136848907C>T ENST00000439694.1 - 0 164 AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000599888.1_RNA TCTGGTCAGACGGAACAACTC 0.498000 7 51 0 0 1 0 0 MLLT4-AS1 653483 broad.mit.edu 37 6 168226811 168226811 + RNA SNP T T C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr6:168226811T>C ENST00000359760.5 - 0 578 NR_027906.1 p.N109D(1) CATCGCCCGTTCGGACCCAGC 0.687000 6 163 0 0 1 0 0 CCDC74A 90557 broad.mit.edu 37 2 132288220 132288220 + Missense_Mutation SNP G G A rs148324548 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:132288220G>A ENST00000467992.2 + 1 984 c.670G>A c.(670-672)Gga>Aga p.G224R CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G122R Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 122 endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 CTGCATCAACGGAGTGTGGGT 0.657000 6 64 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27690423 27690423 + Silent SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:27690423G>A ENST00000374040.3 - 4 1085 c.825C>T c.(823-825)tcC>tcT p.S275S MAP3K6_ENST00000357582.2_Silent_p.S283S|MAP3K6_ENST00000493901.1_Silent_p.S283S O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 283 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity p.S275S(1) breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CATCGCGGTAGGAGAGCAGCA 0.607000 4 32 0 0 1 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376459 75376459 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr14:75376459C>T ENST00000555647.1 - 8 1344 c.1057G>A c.(1057-1059)Ggc>Agc p.G353S RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G353S|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G353S|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G322S Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 353 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity p.G353S(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) AGCACCGGGCCGGCCCCCTCA 0.692000 9 37 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43023936 43023936 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr15:43023936G>A ENST00000356231.3 - 11 1644 c.1621C>T c.(1621-1623)Cgg>Tgg p.R541W NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 541 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CGCCACAACCGCCCCAGCTTG 0.627000 4 97 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890768 70890768 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:70890768G>A ENST00000264436.3 - 16 2414 c.1970C>T c.(1969-1971)aCg>aTg p.T657M ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.T657M NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 657 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding p.T657M(1) autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 TTCCTCTGCCGTCTGCTCCTC 0.572000 15 154 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55227956 55227956 + Missense_Mutation SNP A A G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:55227956A>G ENST00000275493.2 + 12 1600 c.1423A>G c.(1423-1425)Ata>Gta p.I475V EGFR_ENST00000442591.1_Missense_Mutation_p.I475V|EGFR_ENST00000342916.3_Missense_Mutation_p.I475V|EGFR_ENST00000454757.2_Missense_Mutation_p.I422V|EGFR_ENST00000455089.1_Missense_Mutation_p.I430V|EGFR_ENST00000344576.2_Missense_Mutation_p.I475V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 475 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.I475V(2) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCAAATACAATAAACTGGAA 0.393000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 21 46 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138200423 138200423 + Missense_Mutation SNP A A G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr6:138200423A>G ENST00000237289.4 + 7 1907 c.1841A>G c.(1840-1842)tAt>tGt p.Y614C NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 614 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.Y614C(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) GGCTGCGTGTATTTTGGGACT 0.542000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 15 95 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160763740 160763740 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr5:160763740C>T ENST00000274547.2 - 7 795 c.578G>A c.(577-579)cGt>cAt p.R193H GABRB2_ENST00000517901.1_Missense_Mutation_p.R130H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R193H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R33H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R193H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R193H NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 193 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity p.R193L(2)|p.R193H(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCATCGCCACGCCAGTAAAA 0.353000 15 82 0 0 1 0 0 AP1B1 162 broad.mit.edu 37 22 29730294 29730294 + Nonsense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr22:29730294G>A ENST00000357586.2 - 17 2455 c.2269C>T c.(2269-2271)Cag>Tag p.Q757* AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q730*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q750*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Q757* NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 757 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTCATGACCTGCAAGGCCTTG 0.607000 4 130 0 0 1 0 0 LHFPL4 375323 broad.mit.edu 37 3 9547694 9547694 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr3:9547694C>T ENST00000287585.6 - 3 885 c.600G>A c.(598-600)cgG>cgA p.R200R NM_198560.2 NP_940962.1 Q7Z7J7 LHPL4_HUMAN lipoma HMGIC fusion partner-like 4 200 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1) 10 Medulloblastoma(99;0.227) GGTCTGTTTGCCGGTTGCCCA 0.657000 4 160 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178272610 178272610 + Nonsense_Mutation SNP A A T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr4:178272610A>T ENST00000264596.3 + 7 1064 c.946A>T c.(946-948)Aag>Tag p.K316* RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 316 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding p.K316*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CGTGGCTCGGAAGTCGGAAGA 0.423000 Base excision repair (BER), DNA glycosylases 18 153 0 0 1 0 0 SNRNP40 9410 broad.mit.edu 37 1 31754270 31754270 + Missense_Mutation SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:31754270T>A ENST00000263694.4 - 5 623 c.605A>T c.(604-606)aAt>aTt p.N202I SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.N202I NM_004814.2 NP_004805.2 Q96DI7 SNR40_HUMAN small nuclear ribonucleoprotein 40kDa (U5) 202 catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP protein binding p.N202I(1) breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 ACTTGTGTCATTGAAGGTCAC 0.393000 22 66 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17168789 17168789 + Missense_Mutation SNP G G C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr10:17168789G>C ENST00000377833.4 - 4 423 c.358C>G c.(358-360)Ctt>Gtt p.L120V CUBN_ENST00000377823.1_Missense_Mutation_p.L120V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 120 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 p.L120V(1) 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) TTTCTCTCAAGATCCACCAGC 0.408000 22 61 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11630169 11630169 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:11630169C>T ENST00000423059.3 - 4 1622 c.1371G>A c.(1369-1371)ggG>ggA p.G457G NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 457 TSP type-1 4. integral to membrane p.G457G(2) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TCTGGATGCCCCCTCCACAGA 0.552000 HNSCC(18;0.044) 10 48 0 0 1 0 0 SLC9A6 10479 broad.mit.edu 37 X 135098865 135098865 + Missense_Mutation SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:135098865T>A ENST00000370695.4 + 10 1333 c.1298T>A c.(1297-1299)cTg>cAg p.L433Q SLC9A6_ENST00000370701.1_Missense_Mutation_p.L381Q|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L401Q NM_001042537.1 NP_001036002.1 Q92581 SL9A6_HUMAN solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 401 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity p.L401Q(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) GGGCTGACACTGTTCACCTTC 0.333000 8 119 0 0 1 0 0 NAE1 8883 broad.mit.edu 37 16 66850564 66850564 + Missense_Mutation SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr16:66850564T>A ENST00000379463.2 - 12 934 c.742A>T c.(742-744)Aat>Tat p.N248Y NAE1_ENST00000290810.3_Missense_Mutation_p.N254Y|NAE1_ENST00000394074.2_Missense_Mutation_p.N165Y|NAE1_ENST00000359087.4_Missense_Mutation_p.N257Y NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 254 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity p.N254Y(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) CCATTTTCATTTTTTAGAATT 0.353000 5 49 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58577499 58577499 + Silent SNP T T C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr16:58577499T>C ENST00000441024.2 - 31 4730 c.4446A>G c.(4444-4446)ctA>ctG p.L1482L CNOT1_ENST00000317147.5_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Intron NM_206999.2 NP_996882.1 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 0 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) ACCAAGGAAATAGCCAACTTA 0.378000 19 75 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238253407 238253407 + Silent SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:238253407G>A ENST00000295550.4 - 36 7706 c.7254C>T c.(7252-7254)ttC>ttT p.F2418F COL6A3_ENST00000347401.3_Silent_p.F2217F|COL6A3_ENST00000353578.4_Silent_p.F2212F|COL6A3_ENST00000346358.4_Silent_p.F2218F|COL6A3_ENST00000472056.1_Silent_p.F1811F|COL6A3_ENST00000409809.1_Silent_p.F2212F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2418 Nonhelical region.|VWFA 11. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.F2418F(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCATCCGGCCGAAAGTGTCTT 0.567000 17 136 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137212 40137212 + Nonsense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr11:40137212C>A ENST00000278198.2 - 2 2594 c.631G>T c.(631-633)Gaa>Taa p.E211* LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.E211*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.E211* Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 211 regulation of axonogenesis integral to membrane protein binding p.E211*(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TTAGGGATTTCCCGAAGGTTG 0.453000 31 98 8.88839e-20 1.06501e-19 1 1 0 NAV3 89795 broad.mit.edu 37 12 78598823 78598823 + Nonsense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr12:78598823C>T ENST00000397909.2 + 39 7116 c.6943C>T c.(6943-6945)Cga>Tga p.R2315* NAV3_ENST00000228327.6_Nonsense_Mutation_p.R2293*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.R145*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.R2293*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.R2116* Q8IVL0 NAV3_HUMAN neuron navigator 3 2315 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.R2293*(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTTCAGCTGCGACCAGAAGA 0.512000 HNSCC(70;0.22) 10 34 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577058 7577058 + Nonsense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:7577058C>A ENST00000420246.2 - 8 1012 c.880G>T c.(880-882)Gag>Tag p.E294* TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 294 Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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) TGGTGAGGCTCCCCTTTCTTG 0.567000 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) 22 57 1.10513e-12 1.28932e-12 1 1 0 CDK5R1 8851 broad.mit.edu 37 17 30815310 30815310 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:30815310C>T ENST00000313401.3 + 2 1361 c.672C>T c.(670-672)gcC>gcT p.A224A NM_003885.2 NP_003876.1 Q15078 CD5R1_HUMAN cyclin-dependent kinase 5, regulatory subunit 1 (p35) 224 axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane cadherin binding|calcium ion binding|protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 Breast(31;0.159)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.0938) AGCTCCAGGCCGTCCTGCTGA 0.592000 36 209 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192431 152192431 + Silent SNP A A G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:152192431A>G ENST00000368801.2 - 3 1749 c.1674T>C c.(1672-1674)taT>taC p.Y558Y FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 558 keratinization calcium ion binding|protein binding p.Y558Y(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGTGGGCCATAGCTGGAAG 0.582000 30 171 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184666 130184666 + Silent SNP C C T rs143084996 byFrequency TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr12:130184666C>T ENST00000422113.2 - 2 983 c.657G>A c.(655-657)ccG>ccA p.P219P NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 219 integral to membrane p.P219P(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGGTCCCCTCCGGCTGGTCCA 0.682000 11 86 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96288830 96288830 + Missense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr12:96288830C>A ENST00000344280.3 - 8 1266 c.709G>T c.(709-711)Gca>Tca p.A237S SNRPF_ENST00000552085.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 237 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTTTTTAGTGCTTGCTGGATT 0.333000 19 200 2.5808e-16 3.0647e-16 1 1 0 EXOC4 60412 broad.mit.edu 37 7 133602486 133602486 + Missense_Mutation SNP C C G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:133602486C>G ENST00000253861.4 + 13 2051 c.2022C>G c.(2020-2022)ttC>ttG p.F674L EXOC4_ENST00000539845.1_Missense_Mutation_p.F573L|EXOC4_ENST00000545148.1_Missense_Mutation_p.F284L NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 674 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) AAGAAGATTTCATAAGGTAAA 0.358000 5 60 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306589 205306589 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:205306589C>T ENST00000367156.3 - 9 1807 c.991G>A c.(991-993)Gtg>Atg p.V331M KLHDC8A_ENST00000460687.1_Missense_Mutation_p.V197M|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.V218M|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.V331M|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.V331M NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 331 p.V331M(1) breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACACCTCCCACGGCGAGGAGG 0.592000 29 180 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47117173 47117173 + Nonsense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr16:47117173G>A ENST00000562435.1 - 9 1921 c.1537C>T c.(1537-1539)Cga>Tga p.R513* NETO2_ENST00000303155.5_Nonsense_Mutation_p.R506* NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 513 integral to membrane receptor activity p.R513*(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) GAATCTTCTCGCCCCCTGACA 0.478000 HNSCC(25;0.065) 16 143 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134305097 134305097 + Translation_Start_Site SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:134305097G>A ENST00000344129.2 - 0 225 CXorf48_ENST00000276241.6_De_novo_Start_InFrame NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) CCTGAGCATCGTCCCAGTTGT 0.632000 15 104 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20177407 20177407 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr20:20177407C>T ENST00000245957.5 + 16 1860 c.1784C>T c.(1783-1785)tCc>tTc p.S595F C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 595 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TACCCAAAATCCAGAGAAGGC 0.468000 9 91 0 0 1 0 0 SRPX2 27286 broad.mit.edu 37 X 99917202 99917202 + Nonsense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:99917202C>T ENST00000373004.3 + 4 621 c.193C>T c.(193-195)Cag>Tag p.Q65* NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 65 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding p.Q65*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 ATTAAATATCCAGGATGGAGA 0.468000 25 101 0 0 1 0 0 CHM 1121 broad.mit.edu 37 X 85119736 85119736 + Missense_Mutation SNP A A T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:85119736A>T ENST00000357749.2 - 15 1890 c.1861T>A c.(1861-1863)Tta>Ata p.L621I CHM_ENST00000537751.1_Missense_Mutation_p.L473I|CHM_ENST00000467744.1_Intron NM_000390.2 NP_000381.1 P24386 RAE1_HUMAN choroideremia (Rab escort protein 1) 621 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1) 20 all_lung(315;5.41e-06) TCTGGCTGTAAACTGTCTCCA 0.478000 8 34 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34927515 34927515 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr21:34927515G>A ENST00000356577.4 + 3 6453 c.5978G>A c.(5977-5979)cGc>cAc p.R1993H SON_ENST00000290239.6_Missense_Mutation_p.R1993H|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1993H|SON_ENST00000300278.4_Missense_Mutation_p.R1993H NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 1993 2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS]. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 cgtcggagccgcaccccaagc 0.667000 4 52 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 11 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070111 141070111 + RNA SNP T T C rs139643347 by1000genomes TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr9:141070111T>C ENST00000503395.1 + 0 1191 p.S75S(1) CCATGGACTCTGTGCGCTCGG 0.697000 5 104 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412381 139412381 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr9:139412381G>A ENST00000277541.6 - 8 1339 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 422 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.P422S(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGCTCGCAGGGGTTGGCACCT 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 17 35 0 0 1 0 0 PDXDC1 23042 broad.mit.edu 37 16 15122790 15122790 + Silent SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr16:15122790G>A ENST00000396410.4 + 15 1357 c.1260G>A c.(1258-1260)cgG>cgA p.R420R PDXDC1_ENST00000325823.7_Silent_p.R405R|PDXDC1_ENST00000535621.2_Silent_p.R420R|PDXDC1_ENST00000563679.1_Silent_p.R438R|PDXDC1_ENST00000569715.1_Silent_p.R393R|PDXDC1_ENST00000450288.2_Silent_p.R392R|PDXDC1_ENST00000447912.2_Silent_p.R329R|PDXDC1_ENST00000455313.2_Silent_p.R397R NM_015027.2 NP_055842.2 Q6P996 PDXD1_HUMAN pyridoxal-dependent decarboxylase domain containing 1 420 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding p.R420R(1) central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GAGTCGGCCGGGAGAGGCACT 0.582000 4 60 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995932 140995932 + Missense_Mutation SNP G G C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:140995932G>C ENST00000285879.4 + 4 3028 c.2742G>C c.(2740-2742)gaG>gaC p.E914D MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 914 MAGE. protein binding p.E914D(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGTGGACGAGTTGGCGCGGT 0.493000 HNSCC(15;0.026) 30 321 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39266304 39266304 + Missense_Mutation SNP G G C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr13:39266304G>C ENST00000280481.7 + 1 5039 c.4823G>C c.(4822-4824)gGc>gCc p.G1608A NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1608 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.G1608A(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AAACATGATGGCACTGAGTCA 0.423000 13 119 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149243425 149243425 + Missense_Mutation SNP A A C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:149243425A>C ENST00000407073.1 + 11 3957 c.2960A>C c.(2959-2961)cAg>cCg p.Q987P MBD5_ENST00000404807.1_Missense_Mutation_p.Q1220P NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 987 chromosome|nucleus chromatin binding|DNA binding p.Q987P(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CAACTTCTCCAGGGGTACCAG 0.443000 9 101 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91132915 91132915 + Missense_Mutation SNP G G C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:91132915G>C ENST00000373094.1 + 2 2521 c.1676G>C c.(1675-1677)aGc>aCc p.S559T PCDH11X_ENST00000373097.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S559T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S559T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S559T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S559T NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 559 Cadherin 5. homophilic cell adhesion integral to plasma membrane calcium ion binding p.S559T(2) 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 GTCTTTGTAAGCATTATTGAT 0.373000 33 165 0 0 1 0 0 IGKV1D-16 28901 broad.mit.edu 37 2 90139449 90139449 + RNA SNP T T C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:90139449T>C ENST00000492446.1 + 0 247 CTATGCTGCATCCAGTTTGCA 0.522000 21 213 0 0 1 0 0 TOX4 9878 broad.mit.edu 37 14 21961325 21961325 + Missense_Mutation SNP A A C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr14:21961325A>C ENST00000405508.1 + 8 1826 c.1550A>C c.(1549-1551)gAg>gCg p.E517A TOX4_ENST00000262709.3_Missense_Mutation_p.E517A|TOX4_ENST00000448790.2_Missense_Mutation_p.E494A O94842 TOX4_HUMAN TOX high mobility group box family member 4 517 Gln/Pro-rich. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.E517A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) AGTAGTCCTGAGCGGCCTATG 0.507000 13 93 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100022563 100022563 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:100022563G>A ENST00000258428.3 - 17 2848 c.2620C>T c.(2620-2622)Cgg>Tgg p.R874W REV1_ENST00000393445.3_Missense_Mutation_p.R873W|REV1_ENST00000465835.1_5'UTR NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 874 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding p.R874W(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ACAGCAGCCCGAAATACTACA 0.398000 Direct reversal of damage 4 26 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130586 117130586 + Missense_Mutation SNP T T G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr6:117130586T>G ENST00000310357.3 - 2 410 c.389A>C c.(388-390)aAg>aCg p.K130T GPRC6A_ENST00000368549.3_Missense_Mutation_p.K130T|GPRC6A_ENST00000530250.1_Missense_Mutation_p.K130T NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 130 response to amino acid stimulus G-protein coupled receptor activity p.K130T(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATAGTCACACTTAAACTCCAC 0.423000 17 81 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 114121202 114121202 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr11:114121202G>A ENST00000335953.4 + 7 2327 c.1947G>A c.(1945-1947)atG>atA p.M649I RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.M649I|ZBTB16_ENST00000535379.1_3'UTR NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 649 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding p.M649I(2) central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) AGAAGCACATGAAGGGCCACA 0.617000 8 90 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9064691 9064691 + Silent SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr19:9064691T>A ENST00000397910.4 - 3 22958 c.22755A>T c.(22753-22755)acA>acT p.T7585T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7587 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T7585T(1)|p.T3218T(1) 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 CTGACATGGATGTTCTGCTAA 0.488000 16 89 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145641354 145641354 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr5:145641354C>T ENST00000265271.5 + 13 2341 c.2175C>T c.(2173-2175)caC>caT p.H725H RBM27_ENST00000506502.1_Silent_p.H670H NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 725 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.H725H(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAACAGTGCACGGAGGTATCC 0.478000 21 53 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234078797 234078797 + Missense_Mutation SNP A A G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:234078797A>G ENST00000359570.5 + 17 1742 c.1742A>G c.(1741-1743)gAt>gGt p.D581G INPP5D_ENST00000538935.1_Missense_Mutation_p.D580G|INPP5D_ENST00000455936.2_Missense_Mutation_p.D345G|INPP5D_ENST00000450745.1_Missense_Mutation_p.D345G Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 593 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding p.D593G(1) central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TACCGTGTGGATCTGCCTACC 0.607000 8 36 0 0 1 0 0 CREB1 1385 broad.mit.edu 37 2 208425875 208425875 + Silent SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:208425875C>A ENST00000432329.2 + 4 545 c.294C>A c.(292-294)tcC>tcA p.S98S CREB1_ENST00000536726.1_Intron|CREB1_ENST00000353267.3_Intron|CREB1_ENST00000539789.1_Silent_p.S58S|CREB1_ENST00000374397.4_Silent_p.S98S|CREB1_ENST00000430624.1_Intron NM_134442.3 NP_604391.1 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 98 activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(44) NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1) 5 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) GACTTTTCTCCGGAACACAGG 0.378000 T EWSR1 """clear cell sarcoma, angiomatoid fibrous histiocytoma""" 3 95 1 1 1 1 0 OR12D3 81797 broad.mit.edu 37 6 29342553 29342553 + Missense_Mutation SNP T T G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr6:29342553T>G ENST00000396806.3 - 1 515 c.512A>C c.(511-513)aAa>aCa p.K171T OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K171T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 GTGATTGAGTTTCTGAGAGCC 0.463000 11 61 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130403 153130403 + Silent SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:153130403G>A ENST00000370060.1 - 23 3108 c.2919C>T c.(2917-2919)ccC>ccT p.P973P L1CAM_ENST00000361699.4_Silent_p.P973P|L1CAM_ENST00000543994.1_Silent_p.P975P|L1CAM_ENST00000538883.1_Silent_p.P975P|L1CAM_ENST00000370055.1_Silent_p.P968P|L1CAM_ENST00000370057.3_Silent_p.P973P|L1CAM_ENST00000361981.3_Silent_p.P968P NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 973 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane p.P973P(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCGAAGTTCGGGGTCCCGAA 0.642000 44 281 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102290781 102290781 + Silent SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:102290781G>A ENST00000370103.4 - 4 606 c.393C>T c.(391-393)gaC>gaT p.D131D OLFM3_ENST00000338858.5_Silent_p.D151D|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Silent_p.D151D|OLFM3_ENST00000536598.1_Silent_p.D56D NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 151 extracellular region p.D151D(1)|p.D131D(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) GCAGGAGCTCGTCCATTTTCT 0.408000 4 37 0 0 1 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86328627 86328627 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr6:86328627C>T ENST00000355238.6 - 10 1395 c.1189G>A c.(1189-1191)Gag>Aag p.E397K SYNCRIP_ENST00000369622.3_Missense_Mutation_p.E397K NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 397 RRM 3. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding p.E397K(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TTTTCTCCCTCCAAGTCTTTG 0.318000 4 51 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108803 147108803 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr3:147108803C>T ENST00000383075.3 - 4 1431 c.919G>A c.(919-921)Gtg>Atg p.V307M ZIC4_ENST00000484399.1_Missense_Mutation_p.V307M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V357M|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.V345M|ZIC4_ENST00000473123.1_Missense_Mutation_p.V307M|ZIC4_ENST00000491672.1_Missense_Mutation_p.V101M NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 307 nucleus DNA binding|zinc ion binding p.V307M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 GAGGGCGACACGAGGGCAGAC 0.687000 8 41 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59946709 59946709 + Silent SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:59946709G>A ENST00000444766.3 - 22 3162 c.3087C>T c.(3085-3087)gtC>gtT p.V1029V INTS2_ENST00000251334.6_Silent_p.V1021V NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1029 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.V1029V(1) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 GAATACCTGCGACCGTCAGAG 0.373000 7 19 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63554134 63554134 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:63554134C>T ENST00000307078.5 - 2 918 c.605G>A c.(604-606)aGt>aAt p.S202N CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.S202N NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 202 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 TTCTCCCCCACTCCTCACATA 0.488000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 44 58 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41007737 41007737 + Missense_Mutation SNP G G T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:41007737G>T ENST00000324545.7 + 12 2168 c.1535G>T c.(1534-1536)tGg>tTg p.W512L USP9X_ENST00000378308.2_Missense_Mutation_p.W512L NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 512 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity p.W505L(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 AACCTTCTGTGGAATCTGGCT 0.448000 20 140 1.96292e-10 2.25059e-10 1 1 0 TBKBP1 9755 broad.mit.edu 37 17 45777021 45777021 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:45777021C>T ENST00000361722.3 + 6 1679 c.830C>T c.(829-831)tCg>tTg p.S277L NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 277 innate immune response endometrium(5)|kidney(1)|lung(1) 7 TCCAACCAGTCGGAGCGAGAC 0.572000 OREG0024498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 197 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400848 195400848 + RNA SNP G G A rs7635190 by1000genomes TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr3:195400848G>A ENST00000445430.1 + 0 1444 TCGCAGAGTCGTGCAGGCCTG 0.552000 3 45 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41381991 41381991 + Missense_Mutation SNP G G T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr5:41381991G>T ENST00000377801.3 - 2 823 c.749C>A c.(748-750)aCc>aAc p.T250N PLCXD3_ENST00000328457.3_Missense_Mutation_p.T250N Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 250 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.T250N(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 AGCTTTGGGGGTCAGCACCAC 0.468000 14 110 4.36969e-10 4.96726e-10 1 1 0 WNT8B 7479 broad.mit.edu 37 10 102240793 102240793 + Missense_Mutation SNP G G T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr10:102240793G>T ENST00000343737.5 + 4 408 c.280G>T c.(280-282)Gct>Tct p.A94S NM_003393.3 NP_003384.2 Q93098 WNT8B_HUMAN wingless-type MMTV integration site family, member 8B 94 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 Colorectal(252;0.117) Epithelial(162;1.87e-10)|all cancers(201;1.64e-08) CATCAGTTCTGCTGGAGTCAT 0.483000 4 158 1 1 1 1 0 AMOT 154796 broad.mit.edu 37 X 112058641 112058641 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:112058641C>T ENST00000371959.3 - 2 1336 c.1337G>A c.(1336-1338)cGg>cAg p.R446Q AMOT_ENST00000304758.1_Missense_Mutation_p.R37Q|AMOT_ENST00000524145.1_Missense_Mutation_p.R446Q|AMOT_ENST00000371958.1_Missense_Mutation_p.R214Q|AMOT_ENST00000371962.1_Missense_Mutation_p.R214Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 446 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CCTCAAGTTCCGGTTCTCGTC 0.498000 75 316 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160050872 160050872 + Missense_Mutation SNP A A T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:160050872A>T ENST00000263635.6 + 17 3084 c.2847A>T c.(2845-2847)gaA>gaT p.E949D TANC1_ENST00000454300.1_Missense_Mutation_p.E843D NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 949 cell junction|postsynaptic density|postsynaptic membrane binding p.E949D(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GCCACGAGGAAGTTGTCACTC 0.557000 27 83 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1018137 1018137 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr11:1018137C>T ENST00000421673.2 - 31 4714 c.4664G>A c.(4663-4665)aGa>aAa p.R1555K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1555 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACAGGGGTTCTGGTGCGTGT 0.572000 40 276 0 0 1 0 0 TMEM243 79161 broad.mit.edu 37 7 86826067 86826067 + Nonsense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:86826067C>T ENST00000433078.1 - 5 683 c.242G>A c.(241-243)tGg>tAg p.W81* TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Nonsense_Mutation_p.W81* transmembrane protein 243, mitochondrial p.W81*(1) TTGTCGATACCAGTAGATCTA 0.264000 13 47 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6973160 6973160 + Missense_Mutation SNP G G T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr18:6973160G>T ENST00000389658.3 - 47 6763 c.6670C>A c.(6670-6672)Caa>Aaa p.Q2224K NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2224 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.Q2224K(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGACTTTTGATTTGAGCTC 0.378000 40 73 2.6416e-12 3.05507e-12 1 1 0 FAM13C 220965 broad.mit.edu 37 10 61028362 61028362 + Missense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr10:61028362C>A ENST00000373867.3 - 9 1109 c.644G>T c.(643-645)cGg>cTg p.R215L FAM13C_ENST00000277705.6_Missense_Mutation_p.R319L|FAM13C_ENST00000442566.3_Missense_Mutation_p.R319L|FAM13C_ENST00000419214.2_Missense_Mutation_p.R298L|FAM13C_ENST00000373868.2_Missense_Mutation_p.R298L|FAM13C_ENST00000422313.2_Missense_Mutation_p.R298L|FAM13C_ENST00000468840.2_Missense_Mutation_p.R215L|FAM13C_ENST00000435852.2_Missense_Mutation_p.R298L NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 298 p.R298L(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCGAATTTTCCGCTTGAGGCT 0.502000 6 52 3.59834e-05 3.89088e-05 1 1 0 IGLV2-28 28812 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 11 0.115264 0.117024 1 1 0 ZNF184 7738 broad.mit.edu 37 6 27419915 27419915 + Missense_Mutation SNP T T C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr6:27419915T>C ENST00000211936.6 - 6 1707 c.1423A>G c.(1423-1425)Aaa>Gaa p.K475E ZNF184_ENST00000377419.1_Missense_Mutation_p.K475E NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 475 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K475E(1) breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TCATTGCATTTGTAAGGTTTT 0.418000 5 80 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113520174 113520174 + Missense_Mutation SNP G G T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:113520174G>T ENST00000284601.3 - 4 1041 c.973C>A c.(973-975)Caa>Aaa p.Q325K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 325 glycogen metabolic process integral to membrane p.Q325K(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ATTAAGTGTTGATTTATCTTA 0.299000 9 78 0.000274275 0.000289513 1 1 0 ATRX 546 broad.mit.edu 37 X 76872192 76872192 + Missense_Mutation SNP C C G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:76872192C>G ENST00000373344.5 - 22 5669 c.5455G>C c.(5455-5457)Gat>Cat p.D1819H ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1781H NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1819 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GCTGTATAATCTTTCCTCTGT 0.303000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 26 108 0 0 1 0 0 KRTAP9-9 81870 broad.mit.edu 37 17 39411940 39411940 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:39411940C>T ENST00000394008.1 + 1 305 c.303C>T c.(301-303)ggC>ggT p.G101G NM_030975.2 NP_112237.2 B5MDD6 B5MDD6_HUMAN keratin associated protein 9-9 101 keratin filament endometrium(3)|skin(2)|upper_aerodigestive_tract(1) 6 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCAGCTGTGGCCAGAGCAGCT 0.617000 5 119 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7586143 7586143 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr12:7586143C>T ENST00000313599.3 - 3 329 c.272G>A c.(271-273)tGt>tAt p.C91Y CD163L1_ENST00000396630.1_Missense_Mutation_p.C91Y|CD163L1_ENST00000416109.2_Missense_Mutation_p.C91Y Q9NR16 C163B_HUMAN CD163 molecule-like 1 91 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGAAAATGGACATCCAAGCTG 0.473000 14 89 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869403 22869403 + Missense_Mutation SNP C C G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr22:22869403C>G ENST00000302097.3 - 2 804 c.552G>C c.(550-552)agG>agC p.R184S NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R184S(1) endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GGATTCCATCCCTGAGTTTAA 0.448000 19 165 0 0 1 0 0 BBS12 166379 broad.mit.edu 37 4 123664753 123664753 + Missense_Mutation SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr4:123664753T>A ENST00000542236.1 + 3 2087 c.1706T>A c.(1705-1707)cTg>cAg p.L569Q BBS12_ENST00000314218.3_Missense_Mutation_p.L569Q NM_001178007.1 NP_001171478.1 Q6ZW61 BBS12_HUMAN Bardet-Biedl syndrome 12 569 cellular protein metabolic process cilium ATP binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4) 21 TCAGGGTGGCTGCATAATACT 0.433000 Bardet-Biedl syndrome 7 92 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103541 2103541 + Missense_Mutation SNP G G A rs147033679 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:2103541G>A ENST00000400921.2 + 9 1243 c.560G>A c.(559-561)aGg>aAg p.R187K PRKCZ_ENST00000400920.1_Missense_Mutation_p.R187K|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 370 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding p.R370K(1) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) CTGCACGAGAGGGGGATCATC 0.627000 9 81 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400841 195400841 + RNA SNP C C A rs7615369 by1000genomes TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr3:195400841C>A ENST00000445430.1 + 0 1437 CTGAGCATCGCAGAGTCGTGC 0.552000 3 45 0.00116845 0.00122365 1 1 0 XPO1 7514 broad.mit.edu 37 2 61719223 61719223 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:61719223C>T ENST00000401558.2 - 16 2561 c.1834G>A c.(1834-1836)Gat>Aat p.D612N XPO1_ENST00000406957.1_Missense_Mutation_p.D612N|XPO1_ENST00000404992.2_Missense_Mutation_p.D612N NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 612 Necessary for HTLV-1 Rex-mediated mRNA export. intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding p.D612N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) AAAATTTCATCAATAAATGGC 0.363000 Mis CLL 14 87 0 0 1 0 0 SKP1 6500 broad.mit.edu 37 5 133502896 133502896 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr5:133502896G>A ENST00000353411.6 - 3 319 c.136C>T c.(136-138)Cct>Tct p.P46S SKP1_ENST00000522855.1_Missense_Mutation_p.P46S|SKP1_ENST00000522552.1_Missense_Mutation_p.P46S|SKP1_ENST00000521216.1_Missense_Mutation_p.P46S|SKP1_ENST00000517625.1_Missense_Mutation_p.P46S NM_170679.2 NP_733779.1 P63208 SKP1_HUMAN S-phase kinase-associated protein 1 46 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.P46S(1) large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTGGTAGAGGAACTGGGTCA 0.313000 27 75 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26849287 26849287 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr22:26849287G>A ENST00000398145.2 - 14 2655 c.2039C>T c.(2038-2040)tCc>tTc p.S680F HPS4_ENST00000493455.2_Intron|HPS4_ENST00000402105.3_Missense_Mutation_p.S675F|HPS4_ENST00000336873.5_Missense_Mutation_p.S680F|HPS4_ENST00000398141.1_Missense_Mutation_p.S693F NM_022081.4 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 680 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 TGGGAAGCCGGAGCTCCGTGC 0.582000 Hermansky-Pudlak syndrome 7 268 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17353318 17353318 + Missense_Mutation SNP C C G rs150531859 byFrequency TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr16:17353318C>G ENST00000261381.6 - 3 524 c.440G>C c.(439-441)cGa>cCa p.R147P NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 147 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.R147P(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCTGTCTGTTCGCACTTTCTC 0.493000 15 83 0 0 1 0 0 RADIL 55698 broad.mit.edu 37 7 4856927 4856927 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:4856927C>T ENST00000536091.1 - 6 1642 c.1510G>A c.(1510-1512)Ggt>Agt p.G504S RADIL_ENST00000538469.1_Silent_p.A317A|RADIL_ENST00000399583.3_Silent_p.A557A Q96JH8 RADIL_HUMAN Ras association and DIL domains 889 Dilute. cell adhesion|multicellular organismal development|signal transduction protein binding p.A557A(1) NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CCTCCAGCACCGCCATGGCCT 0.642000 21 44 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10602732 10602732 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr19:10602732C>T ENST00000171111.5 - 3 1393 c.846G>A c.(844-846)caG>caA p.Q282Q KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Silent_p.Q282Q NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 282 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.Q282Q(1) 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) GCAGCTGCATCTGCAGGAAGT 0.617000 12 72 0 0 1 0 0 OR7E91P 79315 broad.mit.edu 37 2 71256928 71256928 + RNA SNP A A T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:71256928A>T ENST00000434990.1 - 0 61 TTTCATCTACAGCCTGAGAAA 0.527000 4 17 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37880352 37880352 + Silent SNP A A G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr19:37880352A>G ENST00000436120.2 + 5 1508 c.1401A>G c.(1399-1401)gaA>gaG p.E467E ZNF527_ENST00000587349.1_Intron NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E467E(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATACCGGAGAAAAGCCCTATG 0.413000 5 64 0 0 1 0 0 RSU1 6251 broad.mit.edu 37 10 16794619 16794619 + Missense_Mutation SNP G G T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr10:16794619G>T ENST00000377921.3 - 6 818 c.517C>A c.(517-519)Cct>Act p.P173T RSU1_ENST00000345264.5_Missense_Mutation_p.P173T|RSU1_ENST00000602389.1_Missense_Mutation_p.P120T|RSU1_ENST00000464074.2_5'UTR Q15404 RSU1_HUMAN Ras suppressor protein 1 173 cell junction assembly|signal transduction cytosol protein binding p.P173T(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(1;7.54e-08) ATTTCCTTAGGCAGCGAGATC 0.473000 14 106 1.49906e-05 1.64773e-05 1 1 0 NEK5 341676 broad.mit.edu 37 13 52684698 52684698 + Missense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr13:52684698C>A ENST00000355568.4 - 6 467 c.328G>T c.(328-330)Gta>Tta p.V110L NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 110 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.V167L(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GAAATCTGTACAAACCAACCG 0.383000 5 35 0.014758 0.0152156 1 1 0 CCDC74B 91409 broad.mit.edu 37 2 130899886 130899886 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:130899886C>T ENST00000392984.3 - 2 1413 c.670G>A c.(670-672)Gga>Aga p.G224R CCDC74B_ENST00000310463.6_Missense_Mutation_p.G122R|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 122 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) ACCCACACTCCGTTGATGCAG 0.652000 6 82 0 0 1 0 0 CD53 963 broad.mit.edu 37 1 111434046 111434046 + Missense_Mutation SNP T T A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr1:111434046T>A ENST00000271324.5 + 2 128 c.16T>A c.(16-18)Ttg>Atg p.L6M CD53_ENST00000429072.2_Missense_Mutation_p.L6M NM_000560.3|NM_001040033.1 NP_000551.1|NP_001035122.1 P19397 CD53_HUMAN CD53 molecule 6 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CATGAGTAGCTTGAAACTGCT 0.438000 6 125 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179497431 179497431 + Missense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:179497431C>A ENST00000589042.1 - 235 43526 c.43302G>T c.(43300-43302)gaG>gaT p.E14434D TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12793D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5494D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5369D|TTN_ENST00000342992.6_Missense_Mutation_p.E11866D|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E5561D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12793 Fibronectin type-III 4. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E11866D(1)|p.E5561D(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTTTTGGGCTCCCTGGATA 0.418000 29 211 3.65163e-15 4.29793e-15 1 1 0 PLXNA3 55558 broad.mit.edu 37 X 153698457 153698457 + Missense_Mutation SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:153698457C>T ENST00000369682.3 + 29 5108 c.4933C>T c.(4933-4935)Cgt>Tgt p.R1645C PLXNA3_ENST00000493546.1_3'UTR NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1645 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.R1645C(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGAGGGGGACCGTGGCAGCAA 0.627000 21 82 0 0 1 0 0 DHX33 56919 broad.mit.edu 37 17 5357158 5357158 + Silent SNP G G A rs147168886 byFrequency TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:5357158G>A ENST00000225296.3 - 7 1490 c.1290C>T c.(1288-1290)acC>acT p.T430T DHX33_ENST00000433302.3_Silent_p.T206T NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 430 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding p.T430T(1) breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TCTCTGGCACGGTCATCTTAT 0.562000 18 26 0 0 1 0 0 HOXD13 3239 broad.mit.edu 37 2 176958146 176958146 + Silent SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr2:176958146C>T ENST00000392539.3 + 1 528 c.528C>T c.(526-528)agC>agT p.S176S NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 176 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TGGCGAGCAGCAGCGTACCGG 0.622000 T NUP98 AML* 4 85 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16722880 16722880 + RNA SNP A A G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr17:16722880A>G ENST00000417510.1 - 0 933 GGTCCACACCAGGTGCATCGT 0.552000 3 129 0 0 1 0 0 RAB5B 5869 broad.mit.edu 37 12 56380870 56380870 + Silent SNP A A G TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr12:56380870A>G ENST00000360299.5 + 2 347 c.126A>G c.(124-126)aaA>aaG p.K42K RAB5B_ENST00000553116.1_Silent_p.K42K|RAB5B_ENST00000448789.2_Silent_p.K42K NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 42 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity p.K42K(1) endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GTTTTGTCAAAGGGCAGTTCC 0.463000 20 30 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126882877 126882877 + Missense_Mutation SNP C C A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:126882877C>A ENST00000339582.2 - 2 1190 c.382G>T c.(382-384)Gct>Tct p.A128S GRM8_ENST00000444921.2_Missense_Mutation_p.A128S|GRM8_ENST00000405249.1_Missense_Mutation_p.A128S|GRM8_ENST00000358373.3_Missense_Mutation_p.A128S O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 128 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.A128P(2)|p.A128S(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ACATCCGAAGCATCTTTCTCT 0.502000 HNSCC(24;0.065) 9 81 1.12685e-05 1.24893e-05 1 1 0 LECT2 3950 broad.mit.edu 37 5 135288629 135288629 + Translation_Start_Site SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr5:135288629C>T ENST00000512872.1 - 0 198 LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 chemotaxis|skeletal system development cytoplasm|extracellular space p.C25Y(1) large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTGCCAGCACATATATTAGC 0.517000 23 133 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188628 140188628 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr5:140188628G>A ENST00000530339.1 + 1 1856 c.1856G>A c.(1855-1857)cGc>cAc p.R619H PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R619H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R619H NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCGCGCGCATCCCGTTC 0.672000 4 106 0 0 1 0 0 MIR526A1 574475 broad.mit.edu 37 19 54209562 54209562 + RNA SNP C C T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr19:54209562C>T ENST00000384897.1 + 0 57 NR_030197.1 GAAGAGAAAGCGCTTCCTTTT 0.413000 16 94 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141164513 141164514 + Frame_Shift_Del DEL CA CA - TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr3:141164513_141164514delCA ENST00000514251.1 + 4 3562_3563 c.3283_3284delCA c.(3283-3285)cfs p.H1095fs ZBTB38_ENST00000321464.5_Frame_Shift_Del_p.H1096fs|ZBTB38_ENST00000441582.2_Frame_Shift_Del_p.H1095fs Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 1095 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 AAAGCGTTACCACTGTCAGTTC 0.455 30 87 --- --- --- --- SEC24D 9871 broad.mit.edu 37 4 119745869 119745870 + Frame_Shift_Ins INS - - G rs141446866 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr4:119745869_119745870insG ENST00000379735.5 - 3 424_425 c.153_154insC c.(151-156)acccacfs p.H52fs SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 52 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CCCCTAGTGGCGGTGGCCCCCA 0.540 7 320 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2416669 2416670 + Frame_Shift_Ins INS - - G rs149919744 by1000genomes TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr7:2416669_2416670insG ENST00000360876.4 + 15 2169_2170 c.2113_2114insG c.(2113-2115)gccfs p.A705fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 705 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GCTGCTGTGGCGGCCCCGGCCT 0.634 9 64 --- --- --- --- SFRP1 6422 broad.mit.edu 37 8 41166638 41166640 + In_Frame_Del DEL GCT GCT - rs3055861 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr8:41166638_41166640delGCT ENST00000220772.3 - 1 376_378 c.39_41delAGC c.(37-42)gcc>gc p.AA13del NM_003012.4 NP_003003.3 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 13 brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1) 7 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CACGCCCAGGGCTGCCCCGCGGC 0.764 5 2 --- --- --- --- ZFAT 57623 broad.mit.edu 37 8 135649949 135649949 + Frame_Shift_Del DEL A A - TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr8:135649949delA ENST00000520727.1 - 4 466 c.167delT c.(166-168)tgfs p.L56fs ZFAT_ENST00000520356.1_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000377838.3_Frame_Shift_Del_p.L68fs|ZFAT_ENST00000523399.1_Frame_Shift_Del_p.L68fs|ZFAT_ENST00000429442.2_Frame_Shift_Del_p.L56fs|ZFAT_ENST00000520214.1_Frame_Shift_Del_p.L56fs NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTTCATGACCAAAAACTCTAC 0.517 7 171 --- --- --- --- PCNXL3 399909 broad.mit.edu 37 11 65385820 65385821 + Frame_Shift_Ins INS - - C TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr11:65385820_65385821insC ENST00000355703.3 + 6 1526_1527 c.987_988insC c.(985-990)ggcagcfs p.S330fs NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 330 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CCCCAGGGGGGCCAGCCCCTGA 0.634 10 74 --- --- --- --- RP11-478C19.2 0 broad.mit.edu 37 12 110868215 110868216 + RNA DEL GT GT - rs113592903 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr12:110868215_110868216delGT ENST00000550231.1 - 0 97 CAgtgtgtgcgtgtgtgtgtgt 0.490 4 6 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79943084 79943091 + Frame_Shift_Del DEL CTGTTCTA CTGTTCTA - TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr13:79943084_79943091delCTGTTCTA ENST00000438737.2 - 6 1109_1116 c.669_676delTAGAACAG c.(667-678)gaatfs p.DRTD223fs RBM26_ENST00000267229.7_Frame_Shift_Del_p.DRTD223fs|RBM26_ENST00000438724.1_Frame_Shift_Del_p.DRTD223fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 223 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TCTAATGGATCTGTTCTATCCAGGTCAT 0.351 8 158 --- --- --- --- ZSCAN29 146050 broad.mit.edu 37 15 43658711 43658712 + Frame_Shift_Ins INS - - T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr15:43658711_43658712insT ENST00000396976.2 - 3 952_953 c.818_819insA c.(817-819)cagfs p.Q273fs ZSCAN29_ENST00000562072.1_Frame_Shift_Ins_p.Q272fs|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 273 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 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;8.97e-07) GGCTGTTCCTATGGCAGTTTCT 0.545 21 123 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546873 3546874 + RNA INS - - T TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr16:3546873_3546874insT ENST00000574423.2 + 0 111 tttttcttttcttttttttttt 0.396 2 4 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 6 4 --- --- --- --- LINC01399 104310353 broad.mit.edu 37 22 35589697 35589716 + RNA DEL GAGGGCGGGAGGGAAGGGAA GAGGGCGGGAGGGAAGGGAA - rs139654089 by1000genomes TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chr22:35589697_35589716delGAGGGCGGGAGGGAAGGGAA ENST00000423311.1 - 0 222 aggaaggaaggagggcgggagggaagggaagaaggaagga 0.518 4 6 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 4 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fa89bda-b719-445a-85d2-76ce8c484b15 8e866e31-5135-4e6f-9f90-29d261fb14a9 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 5 8 --- --- --- ---