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 CRISP2 7180 broad.mit.edu 37 6 49666200 49666200 + Missense_Mutation SNP G G A rs148414007 by1000genomes TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:49666200G>A ENST00000339139.4 - 7 528 c.292C>T c.(292-294)Ctc>Ttc p.L98F NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 98 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GACATATAGAGATTCTCACCA 0.408000 33 45 0 0 0.045705 0 0 AMBP 259 broad.mit.edu 37 9 116823799 116823799 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr9:116823799G>A ENST00000265132.3 - 8 1020 c.758C>T c.(757-759)tCc>tTc p.S253F NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 253 BPTI/Kunitz inhibitor 1. cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) ACAGGCCATGGATGTACCATT 0.562000 49 52 0 0 0.139131 0 0 ZNF365 22891 broad.mit.edu 37 10 64159311 64159311 + Silent SNP A A T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:64159311A>T ENST00000395254.3 + 5 1267 c.987A>T c.(985-987)gtA>gtT p.V329V ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR NM_014951.2 NP_055766.2 Q70YC4 TALAN_HUMAN zinc finger protein 365 0 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) CGCATTCGGTATGTAACCACC 0.502000 75 79 0 0 0.139131 0 0 C5AR1 728 broad.mit.edu 37 19 47823557 47823557 + Missense_Mutation SNP C C T rs141160351 TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:47823557C>T ENST00000355085.3 + 2 545 c.523C>T c.(523-525)Cgg>Tgg p.R175W NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 175 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CTTCCTGTACCGGGTGGTCCG 0.632000 66 85 0 0 0.139131 0 0 CEP164 22897 broad.mit.edu 37 11 117241991 117241991 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:117241991C>T ENST00000278935.3 + 9 1108 c.961C>T c.(961-963)Cct>Tct p.P321S CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 321 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GAAGAGTGAACCTAAGATTTG 0.527000 83 11 0 0 0.139131 0 0 CRB2 286204 broad.mit.edu 37 9 126132627 126132627 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr9:126132627G>A ENST00000373631.3 + 7 1296 c.1295G>A c.(1294-1296)gGa>gAa p.G432E CRB2_ENST00000373629.2_Missense_Mutation_p.G100E|CRB2_ENST00000359999.3_Missense_Mutation_p.G432E NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 432 EGF-like 9.|Laminin G-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GGTACCCATGGACCGTTCTGT 0.627000 22 28 0 0 0.083992 0 0 DAW1 164781 broad.mit.edu 37 2 228754594 228754594 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:228754594G>A ENST00000373666.2 + 3 772 c.136G>A c.(136-138)Gaa>Aaa p.E46K DAW1_ENST00000309931.2_Missense_Mutation_p.E46K|DAW1_ENST00000545118.1_Missense_Mutation_p.E31K|DAW1_ENST00000472604.1_3'UTR dynein assembly factor with WDR repeat domains 1 TGCGTTAGTAGAAGAAATCCA 0.373000 19 23 0 0 0.055883 0 0 BIRC6 57448 broad.mit.edu 37 2 32724814 32724814 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:32724814G>A ENST00000421745.2 + 46 8803 c.8669G>A c.(8668-8670)cGa>cAa p.R2890Q NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 2890 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.R2862L(1)|p.R2890L(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GTGGGTGCTCGAGCATGCTTT 0.438000 87 128 0 0 0.139131 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54930811 54930811 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:54930811G>A ENST00000293373.6 + 29 3236 c.3157G>A c.(3157-3159)Gaa>Aaa p.E1053K NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E1003K NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 1053 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 CAAGAACATTGAAACTCACCT 0.403000 33 52 0 0 0.080422 0 0 PCNA 5111 broad.mit.edu 37 20 5100229 5100229 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:5100229G>A ENST00000379160.3 - 2 458 c.216C>T c.(214-216)ctC>ctT p.L72L PCNA_ENST00000379143.5_Silent_p.L72L NM_002592.2 NP_002583.1 P12004 PCNA_HUMAN proliferating cell nuclear antigen 72 Interaction with NUDT15. cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(2) 9 CTCACCTGGTGAGGTTCACGC 0.692000 DNA polymerases (catalytic subunits) 6 27 0 0 0.038147 0 0 WAPAL 23063 broad.mit.edu 37 10 88211815 88211815 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:88211815G>A ENST00000298767.5 - 15 3495 c.3023C>T c.(3022-3024)tCg>tTg p.S1008L WAPAL_ENST00000263070.7_Intron|WAPAL_ENST00000372075.1_Intron NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 1008 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 AAAAGAGCACGATGTTTCCAT 0.423000 27 33 0 0 0.099896 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24523737 24523737 + Missense_Mutation SNP G G A rs140803711 by1000genomes TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:24523737G>A ENST00000376862.3 + 2 637 c.4G>A c.(4-6)Gat>Aat p.D2N NM_024893.1 NP_079169.1 Q9H7V2 SYNG1_HUMAN synapse differentiation inducing 1 2 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 GAGTACCATGGATGGCATCAT 0.507000 86 52 0 0 0.139131 0 0 KIAA1217 56243 broad.mit.edu 37 10 24508690 24508690 + Missense_Mutation SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:24508690T>C ENST00000376454.3 + 2 236 c.206T>C c.(205-207)cTa>cCa p.L69P KIAA1217_ENST00000376452.3_Missense_Mutation_p.L69P|KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L69P NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 69 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AGACACACCCTAGGGGGGCCC 0.502000 27 44 0 0 0.116897 0 0 TIAM2 26230 broad.mit.edu 37 6 155458566 155458566 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:155458566G>A ENST00000461783.3 + 7 2723 c.1450G>A c.(1450-1452)Gag>Aag p.E484K TIAM2_ENST00000529824.2_Missense_Mutation_p.E484K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E484K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E484K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E484K|TIAM2_ENST00000367174.2_5'UTR Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 484 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGAAACCGCCGAGTCCAGCAG 0.532000 63 63 0 0 0.139131 0 0 MARCH1 55016 broad.mit.edu 37 4 164506934 164506934 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:164506934G>A ENST00000503008.1 - 6 1366 c.390C>T c.(388-390)ttC>ttT p.F130F MARCH1_ENST00000274056.7_Silent_p.F130F|MARCH1_ENST00000514618.1_Silent_p.F386F|MARCH1_ENST00000339875.5_Silent_p.F113F NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 130 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.F113F(1)|p.F130F(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCCATTATGAAGTCATACT 0.493000 44 86 0 0 0.139131 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110431459 110431459 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr8:110431459G>A ENST00000378402.5 + 22 2598 c.2494G>A c.(2494-2496)Gga>Aga p.G832R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 832 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTGTACATTGGACACACATC 0.328000 HNSCC(38;0.096) 5 11 0 0 0.014758 0 0 PLBD1 79887 broad.mit.edu 37 12 14659974 14659974 + Missense_Mutation SNP A A C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:14659974A>C ENST00000240617.5 - 9 1917 c.1265T>G c.(1264-1266)cTg>cGg p.L422R NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 422 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 GTCCAAGCCCAGCTTCTGAAC 0.443000 53 51 0 0 0.139131 0 0 NWD1 284434 broad.mit.edu 37 19 16861034 16861034 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:16861034C>T ENST00000524140.2 + 6 1999 c.1581C>T c.(1579-1581)ctC>ctT p.L527L NWD1_ENST00000379808.3_Silent_p.L527L|NWD1_ENST00000552788.1_Silent_p.L527L|NWD1_ENST00000549814.1_Silent_p.L527L|NWD1_ENST00000523826.1_Silent_p.L321L|NWD1_ENST00000339803.6_Silent_p.L392L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 527 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGGCCAGCCTCCCAGAGTGTG 0.642000 33 36 0 0 0.069456 0 0 COL7A1 1294 broad.mit.edu 37 3 48609941 48609941 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:48609941C>T ENST00000328333.8 - 88 7038 c.6931G>A c.(6931-6933)Gag>Aag p.E2311K COL7A1_ENST00000454817.1_Missense_Mutation_p.E2279K NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2311 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTCACCTTCTCTCCCTTTGCT 0.647000 34 34 0 0 0.098360 0 0 TTN 7273 broad.mit.edu 37 2 179505295 179505295 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:179505295C>T ENST00000589042.1 - 221 40920 c.40696G>A c.(40696-40698)Gaa>Aaa p.E13566K TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4693K|TTN_ENST00000591111.1_Missense_Mutation_p.E11925K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10998K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4501K|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4626K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11925 Ig-like 92. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTTCCTTTCCCTTTTTGTA 0.318000 49 78 0 0 0.139131 0 0 ABCB1 5243 broad.mit.edu 37 7 87144571 87144571 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:87144571G>A ENST00000265724.3 - 26 3675 c.3258C>T c.(3256-3258)ttC>ttT p.F1086F ABCB1_ENST00000543898.1_Silent_p.F1022F|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1086 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AGGGGTCGTAGAACCGCTCCA 0.517000 24 33 0 0 0.116897 0 0 DICER1 23405 broad.mit.edu 37 14 95571499 95571499 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr14:95571499G>A ENST00000526495.1 - 22 3469 c.3178C>T c.(3178-3180)Cgc>Tgc p.R1060C DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000541352.1_Missense_Mutation_p.R1060C|DICER1_ENST00000527414.1_Missense_Mutation_p.R1060C|DICER1_ENST00000343455.3_Missense_Mutation_p.R1060C|DICER1_ENST00000393063.1_Missense_Mutation_p.R1060C Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1060 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAGTGAAGGCGATAAAGTATG 0.498000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 6 86 0 0 0.029380 0 0 OR8B12 219858 broad.mit.edu 37 11 124412728 124412728 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:124412728G>A ENST00000306842.2 - 1 847 c.823C>T c.(823-825)Ctg>Ttg p.L275L NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GTATAGAACAGGGAGGACACT 0.433000 36 1 0 0 0.059317 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187712480 187712480 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:187712480G>A ENST00000295131.2 - 2 247 c.208C>T c.(208-210)Ccg>Tcg p.P70S NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 70 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) CCTCCTTTCGGAAATGTGGAA 0.348000 37 31 0 0 0.111260 0 0 SLC4A11 83959 broad.mit.edu 37 20 3215509 3215509 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:3215509G>A ENST00000380059.3 - 3 350 c.249C>T c.(247-249)ttC>ttT p.F83F SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000380056.3_Silent_p.F56F|SLC4A11_ENST00000539553.1_Silent_p.F40F NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 56 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity p.F56F(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 CTCGGGCTTCGAAGGTGTCAT 0.547000 20 64 0 0 0.055883 0 0 FAM173B 134145 broad.mit.edu 37 5 10236718 10236718 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:10236718C>T ENST00000511437.1 - 3 328 c.316G>A c.(316-318)Gct>Act p.A106T FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.A106T|FAM173B_ENST00000510052.1_5'UTR NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 106 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 TTCTTCGCAGCCGCTATGACC 0.408000 33 23 0 0 0.059317 0 0 ROBO2 6092 broad.mit.edu 37 3 77147226 77147226 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:77147226C>T ENST00000461745.1 + 2 1023 c.123C>T c.(121-123)atC>atT p.I41I ROBO2_ENST00000332191.8_Silent_p.I41I|ROBO2_ENST00000487694.3_Silent_p.I57I NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 41 Ig-like C2-type 1. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCGATGTCATCGTCTCTAAGG 0.547000 13 20 0 0 0.093190 0 0 ST13 6767 broad.mit.edu 37 22 41223178 41223178 + Silent SNP T T G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr22:41223178T>G ENST00000216218.3 - 11 1384 c.903A>C c.(901-903)ggA>ggC p.G301G NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 301 Gly/Met/Pro-rich. protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 GCATGCCCCCTCCCATTCCAG 0.453000 200 8 0 0 0.139131 0 0 PPFIA4 8497 broad.mit.edu 37 1 203015491 203015491 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:203015491G>A ENST00000367240.2 + 9 1648 c.1121G>A c.(1120-1122)aGa>aAa p.R374K PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R374K|PPFIA4_ENST00000414050.2_Missense_Mutation_p.R81K O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 0 SAM 1. cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CTGGCCCAGAGAATTGCAGCC 0.652000 4 7 0 0 0.009096 0 0 ZNF43 7594 broad.mit.edu 37 19 21991924 21991924 + Missense_Mutation SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:21991924C>A ENST00000594012.1 - 7 1411 c.897G>T c.(895-897)aaG>aaT p.K299N ZNF43_ENST00000354959.4_Missense_Mutation_p.K305N|ZNF43_ENST00000598381.1_Missense_Mutation_p.K299N|ZNF43_ENST00000595461.1_Missense_Mutation_p.K299N NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) GATGAATTTTCTTATGTTCAG 0.368000 31 23 4.74835e-14 5.86825e-14 0.045705 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 4 85 0 0 0.047766 0 0 OR4K14 122740 broad.mit.edu 37 14 20483000 20483000 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr14:20483000G>A ENST00000305045.2 - 1 352 c.353C>T c.(352-354)tCc>tTc p.S118F NM_001004712.1 NP_001004712.1 Q8NGD5 OR4KE_HUMAN olfactory receptor, family 4, subfamily K, member 14 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) ATAGGCCATGGAAACCAGGAG 0.468000 27 25 0 0 0.091800 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84609948 84609948 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr9:84609948G>A ENST00000344803.2 + 4 4610 c.4563G>A c.(4561-4563)agG>agA p.R1521R NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TGCCCCACAGGAAGCCTGTGC 0.537000 10 16 0 0 0.058154 0 0 TSN 7247 broad.mit.edu 37 2 122522899 122522899 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:122522899C>T ENST00000389682.3 + 6 890 c.643C>T c.(643-645)Cgg>Tgg p.R215W TSN_ENST00000409193.1_Missense_Mutation_p.R210W|TSN_ENST00000536142.1_3'UTR|TSN_ENST00000498545.1_3'UTR NM_001261401.1|NM_004622.2 NP_001248330.1|NP_004613.1 Q15631 TSN_HUMAN translin 215 DNA recombination cytoplasm|nucleus sequence-specific DNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1) 12 Ovarian(717;0.0563)|Prostate(154;0.116) TCTCTCCATCCGGGGCTTTAA 0.512000 49 68 0 0 0.139131 0 0 VRK2 7444 broad.mit.edu 37 2 58373490 58373490 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:58373490G>A ENST00000435505.2 + 15 1808 c.1063G>A c.(1063-1065)Gca>Aca p.A355T VRK2_ENST00000340157.4_Missense_Mutation_p.A355T|VRK2_ENST00000412104.2_Missense_Mutation_p.A355T|VRK2_ENST00000440705.2_Missense_Mutation_p.A332T|VRK2_ENST00000417641.2_Missense_Mutation_p.A355T Q86Y07 VRK2_HUMAN vaccinia related kinase 2 355 integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 AGTCAACAAGGCACACAATAG 0.363000 16 23 0 0 0.146539 0 0 DNAH11 8701 broad.mit.edu 37 7 21658816 21658816 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:21658816G>A ENST00000328843.6 + 24 4399 c.4368G>A c.(4366-4368)gcG>gcA p.A1456A DNAH11_ENST00000409508.3_Silent_p.A1451A|DNAH11_ENST00000465593.1_3'UTR Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1456 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TGGACAAGGCGGTGAAAGAGC 0.443000 Kartagener syndrome 11 14 0 0 0.069234 0 0 ARMC4 55130 broad.mit.edu 37 10 28270414 28270414 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:28270414G>A ENST00000305242.5 - 7 1009 c.917C>T c.(916-918)tCa>tTa p.S306L ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000239715.3_Missense_Mutation_p.S163L|ARMC4_ENST00000480504.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 306 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CATATTTTCTGAAAATTTTGG 0.289000 38 52 0 0 0.074837 0 0 CADM2 253559 broad.mit.edu 37 3 86010782 86010782 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:86010782G>A ENST00000383699.3 + 8 1582 c.955G>A c.(955-957)Gtt>Att p.V319I CADM2_ENST00000407528.2_Missense_Mutation_p.V310I|CADM2_ENST00000405615.2_Missense_Mutation_p.V312I NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 310 Thr-rich. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TGCGGAATATGTTCTCATTGT 0.358000 26 44 0 0 0.108266 0 0 PROM2 150696 broad.mit.edu 37 2 95944471 95944471 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:95944471G>A ENST00000317620.9 + 9 1186 c.1053G>A c.(1051-1053)gaG>gaA p.E351E PROM2_ENST00000542147.1_Silent_p.E351E|PROM2_ENST00000317668.4_Silent_p.E351E|PROM2_ENST00000403131.2_Silent_p.E351E NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 351 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TCCTGCAGGAGAACAGCACCT 0.637000 33 34 0 0 0.059317 0 0 SUPT5H 6829 broad.mit.edu 37 19 39960881 39960881 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:39960881C>T ENST00000599117.1 + 18 1864 c.1497C>T c.(1495-1497)ttC>ttT p.F499F SUPT5H_ENST00000432763.2_Silent_p.F499F|SUPT5H_ENST00000402194.2_Silent_p.F495F|SUPT5H_ENST00000359191.6_Silent_p.F495F|SUPT5H_ENST00000598725.1_Silent_p.F499F O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 499 KOW 3. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGGAGAATTTCGTTATCCTGT 0.552000 76 87 0 0 0.139131 0 0 ZNF701 55762 broad.mit.edu 37 19 53085502 53085502 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:53085502G>A ENST00000540331.1 + 5 613 c.388G>A c.(388-390)Ggc>Agc p.G130S ZNF701_ENST00000391785.3_Missense_Mutation_p.G64S|ZNF701_ENST00000301093.2_Missense_Mutation_p.G130S|CTD-3099C6.7_ENST00000599222.1_RNA NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AACAGGACAAGGCAATACAGA 0.358000 26 33 0 0 0.134883 0 0 CPNE1 8904 broad.mit.edu 37 20 34218407 34218407 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:34218407C>T ENST00000317619.3 - 15 1450 c.1056G>A c.(1054-1056)tcG>tcA p.S352S CPNE1_ENST00000352393.4_Silent_p.S352S|CPNE1_ENST00000317677.5_Silent_p.S357S|CPNE1_ENST00000397442.1_Silent_p.S352S|CPNE1_ENST00000397446.1_Silent_p.S352S|CPNE1_ENST00000397443.1_Silent_p.S352S|CPNE1_ENST00000397445.1_Silent_p.S352S Q99829 CPNE1_HUMAN copine I 352 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CAAATTCATGCGAGACCTGGA 0.488000 7 587 0 0 0.038147 0 0 MEMO1 51072 broad.mit.edu 37 2 32093518 32093518 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:32093518G>A ENST00000295065.4 - 9 1115 c.806C>T c.(805-807)tCg>tTg p.S269L DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.S246L|MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.S269L|MEMO1_ENST00000379383.3_Missense_Mutation_p.S272L NM_015955.2 NP_057039.1 Q9Y316 MEMO1_HUMAN mediator of cell motility 1 269 regulation of microtubule-based process cytosol|nucleus NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 17 Acute lymphoblastic leukemia(172;0.155) ATTCAAAAACGAAAAACTCAT 0.423000 4 8 0 0 0.014758 0 0 BBS7 55212 broad.mit.edu 37 4 122749834 122749834 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:122749834G>A ENST00000264499.4 - 16 1909 c.1726C>T c.(1726-1728)Cta>Tta p.L576L BBS7_ENST00000506636.1_Silent_p.L576L NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 576 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 ACATCTTTTAGGATGGAGATA 0.269000 Bardet-Biedl syndrome 14 22 0 0 0.033300 0 0 ALG10 84920 broad.mit.edu 37 12 34179315 34179315 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:34179315C>T ENST00000266483.2 + 3 1206 c.887C>T c.(886-888)tCa>tTa p.S296L RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 296 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TACTTTTTTTCATTTACTCTC 0.348000 47 80 0 0 0.139131 0 0 MYO18B 84700 broad.mit.edu 37 22 26194047 26194047 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr22:26194047C>T ENST00000335473.7 + 12 2754 c.2504C>T c.(2503-2505)gCg>gTg p.A835V MYO18B_ENST00000536101.1_Missense_Mutation_p.A835V|MYO18B_ENST00000407587.2_Missense_Mutation_p.A835V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 835 Myosin head-like. A -> G (in a lung squamous cell carcinoma sample; somatic mutation). nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.A835E(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CACCTGGGTGCGGCGGGGGCC 0.662000 10 2 0 0 0.093190 0 0 GRIN3A 116443 broad.mit.edu 37 9 104375733 104375733 + Silent SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr9:104375733A>G ENST00000361820.3 - 6 3291 c.2691T>C c.(2689-2691)caT>caC p.H897H GRIN3A_ENST00000479772.1_5'UTR NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 897 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CCATAAACCCATGTGACTTGT 0.458000 26 34 0 0 0.099896 0 0 SLC6A20 54716 broad.mit.edu 37 3 45801384 45801384 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:45801384C>T ENST00000358525.4 - 10 1709 c.1594G>A c.(1594-1596)Ggg>Agg p.G532R SLC6A20_ENST00000456124.2_Missense_Mutation_p.G532R|SLC6A20_ENST00000353278.4_Missense_Mutation_p.G495R NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 532 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TTCAGGGTCCCCGTGAGGATG 0.587000 69 73 0 0 0.139131 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789273 117789273 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:117789273G>A ENST00000528626.1 - 2 375 c.302C>T c.(301-303)tCc>tTc p.S101F TMPRSS13_ENST00000526090.1_Missense_Mutation_p.S101F|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.S101F|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.S101F|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.S101F NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 96 proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) TGACCTGCCGGATGAGGACCT 0.627000 19 6 0 0 0.043863 0 0 CMYA5 202333 broad.mit.edu 37 5 79029992 79029992 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:79029992G>A ENST00000446378.2 + 2 5435 c.5404G>A c.(5404-5406)Gta>Ata p.V1802I NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1802 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTCATCCCAGGTACTCCAGAG 0.393000 40 72 0 0 0.080422 0 0 TAT 6898 broad.mit.edu 37 16 71606176 71606176 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr16:71606176C>T ENST00000355962.4 - 6 752 c.619G>A c.(619-621)Gaa>Aaa p.E207K RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 207 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GCTGTCTTTTCATCAATTAGA 0.418000 24 42 0 0 0.083992 0 0 PYGM 5837 broad.mit.edu 37 11 64522219 64522219 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:64522219G>A ENST00000164139.3 - 8 1343 c.945C>T c.(943-945)tcC>tcT p.S315S PYGM_ENST00000377432.3_Silent_p.S227S NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 315 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) AGCCGAACTTGGAAGACTTGA 0.587000 11 19 0 0 0.080935 0 0 GFRAL 389400 broad.mit.edu 37 6 55216059 55216059 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:55216059G>A ENST00000340465.2 + 5 465 c.379G>A c.(379-381)Ggg>Agg p.G127R NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 127 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGGATTCAAAGGGATGTGGTC 0.433000 86 100 0 0 0.139131 0 0 SUCO 51430 broad.mit.edu 37 1 172546697 172546697 + Missense_Mutation SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:172546697A>G ENST00000263688.3 + 12 1501 c.1282A>G c.(1282-1284)Aag>Gag p.K428E SUCO_ENST00000367723.3_Intron NM_014283.3 NP_055098.1 SUN domain containing ossification factor CAAGTACATAAAGGTTAGCAA 0.318000 19 32 0 0 0.043863 0 0 CCDC73 493860 broad.mit.edu 37 11 32636297 32636297 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:32636297C>T ENST00000335185.5 - 16 1610 c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 523 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TTGTCTTTTTCCAAGCATATC 0.318000 36 57 0 0 0.080422 0 0 LPAR4 2846 broad.mit.edu 37 X 78010805 78010805 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chrX:78010805C>T ENST00000435339.2 + 2 844 c.439C>T c.(439-441)Cgt>Tgt p.R147C LPAR4_ENST00000373301.2_Missense_Mutation_p.R147C NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 147 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTTTCGATCTCGTACTATTAG 0.463000 54 4 0 0 0.139131 0 0 C12orf77 196415 broad.mit.edu 37 12 25148886 25148886 + Missense_Mutation SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:25148886A>G ENST00000549828.1 - 3 466 c.262T>C c.(262-264)Tgc>Cgc p.C88R C12orf77_ENST00000434912.3_Missense_Mutation_p.C33R|C12orf77_ENST00000549262.1_Missense_Mutation_p.C33R NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 88 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 TTCTGGTGGCATTCGGGGGCA 0.507000 23 31 0 0 0.076483 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 8 84 0 0 0.069234 0 0 LRIT1 26103 broad.mit.edu 37 10 85991885 85991885 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:85991885C>T ENST00000372105.3 - 4 1691 c.1670G>A c.(1669-1671)cGa>cAa p.R557Q NM_015613.2 NP_056428.1 Q9P2V4 LRIT1_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 557 integral to endoplasmic reticulum membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1) 23 GAAGCACTTTCGGCAGCGCTT 0.567000 27 19 0 0 0.091800 0 0 UNK 85451 broad.mit.edu 37 17 73780856 73780856 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr17:73780856G>A ENST00000293218.3 + 2 123 c.123G>A c.(121-123)ggG>ggA p.G41G H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGTGTGGGGGGTCTTCACGT 0.612000 7 13 0 0 0.047766 0 0 TSC22D4 81628 broad.mit.edu 37 7 100071977 100071977 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:100071977G>A ENST00000300181.2 - 3 1603 c.849C>T c.(847-849)ttC>ttT p.F283F TSC22D4_ENST00000496728.1_5'UTR|TSC22D4_ENST00000393991.1_Silent_p.F44F NM_030935.3 NP_112197.1 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 283 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTACTGCTCCGAAGGGGTCTG 0.607000 27 29 0 0 0.099896 0 0 ZNF43 7594 broad.mit.edu 37 19 21991634 21991634 + Missense_Mutation SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:21991634T>C ENST00000594012.1 - 7 1701 c.1187A>G c.(1186-1188)gAa>gGa p.E396G ZNF43_ENST00000354959.4_Missense_Mutation_p.E402G|ZNF43_ENST00000598381.1_Missense_Mutation_p.E396G|ZNF43_ENST00000595461.1_Missense_Mutation_p.E396G NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TTTGCCACATTCTTCACATTT 0.363000 30 25 0 0 0.134883 0 0 MST1R 4486 broad.mit.edu 37 3 49933263 49933263 + Silent SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:49933263C>A ENST00000296474.3 - 12 2874 c.2847G>T c.(2845-2847)ggG>ggT p.G949G MST1R_ENST00000344206.4_Silent_p.G900G NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 949 cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCCCATCTGGCCCTGGCCGCA 0.622000 21 37 5.35356e-11 6.55436e-11 0.076483 1 0 HHLA2 11148 broad.mit.edu 37 3 108072555 108072555 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:108072555G>A ENST00000357759.5 + 4 760 c.346G>A c.(346-348)Gaa>Aaa p.E116K HHLA2_ENST00000491820.1_Missense_Mutation_p.E116K|HHLA2_ENST00000489514.2_Missense_Mutation_p.E116K|HHLA2_ENST00000467562.1_Missense_Mutation_p.E52K|HHLA2_ENST00000467761.1_Missense_Mutation_p.E116K NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 116 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 CCTTCTGGACGAAGGAATTTA 0.398000 22 36 0 0 0.069288 0 0 AREL1 9870 broad.mit.edu 37 14 75142897 75142897 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr14:75142897G>A ENST00000356357.4 - 7 1294 c.779C>T c.(778-780)tCa>tTa p.S260L AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 ATTTTGGTATGAAATGCAAGC 0.408000 22 4 0 0 0.062417 0 0 UQCC1 55245 broad.mit.edu 37 20 33894523 33894523 + Silent SNP C C G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:33894523C>G ENST00000374385.5 - 9 888 c.711G>C c.(709-711)cgG>cgC p.R237R UQCC_ENST00000542501.1_3'UTR|UQCC_ENST00000540457.1_Silent_p.R82R|UQCC_ENST00000407996.2_Silent_p.R100R|UQCC_ENST00000397556.3_Silent_p.R138R|UQCC_ENST00000359226.2_Silent_p.R157R|UQCC_ENST00000374377.5_Silent_p.R125R|UQCC_ENST00000374380.2_Silent_p.R169R|UQCC_ENST00000374384.2_Silent_p.R211R|UQCC_ENST00000349714.5_Silent_p.R210R NM_018244.4 NP_060714.3 Q9NVA1 UQCC_HUMAN 237 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTTCACATTTCCGGTTGAAGA 0.542000 OREG0025889 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 202 55 0 0 0.139131 0 0 MMP15 4324 broad.mit.edu 37 16 58079224 58079224 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr16:58079224G>A ENST00000219271.3 + 10 2669 c.1884G>A c.(1882-1884)atG>atA p.M628I NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 628 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 ACGTGGTGATGGTGCTGGTGC 0.662000 13 21 0 0 0.105934 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46078116 46078116 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr21:46078116G>A ENST00000397907.1 + 1 268 c.220G>A c.(220-222)Ggg>Agg p.G74R TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 74 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCAATCTTCGGGGTGCTGCCA 0.647000 40 6 0 0 0.098360 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 5 56 0.000274275 0.000326637 0.047766 1 0 CPNE9 151835 broad.mit.edu 37 3 9754249 9754249 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:9754249G>A ENST00000383832.3 + 8 592 c.402G>A c.(400-402)ggG>ggA p.G134G CPNE9_ENST00000383831.3_Silent_p.G134G NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 134 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) AGAAGTGTGGGACCATATTGC 0.532000 28 50 0 0 0.050027 0 0 UROC1 131669 broad.mit.edu 37 3 126219548 126219548 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:126219548C>T ENST00000290868.2 - 11 1188 c.1135G>A c.(1135-1137)Gtc>Atc p.V379I UROC1_ENST00000383579.3_Missense_Mutation_p.V439I NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 379 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CTTTCCTGGACCAGGTCCTTG 0.597000 39 53 0 0 0.124865 0 0 PDLIM3 27295 broad.mit.edu 37 4 186435436 186435436 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:186435436G>A ENST00000284770.5 - 4 459 c.386C>T c.(385-387)cCg>cTg p.P129L PDLIM3_ENST00000284771.6_Intron|PDLIM3_ENST00000284767.5_3'UTR NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 129 sarcomere zinc ion binding p.P129Q(1) breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) GCTTCGGCCCGGGATCACGAA 0.453000 40 4 0 0 0.124865 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659734 24659734 + RNA SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr22:24659734T>C ENST00000414583.2 + 0 3259 NR_003714.1 CTCTCTCCTGTGGGAGGGGGG 0.632000 3 9 0 0 0.115264 0 0 MYO16 23026 broad.mit.edu 37 13 109379904 109379904 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr13:109379904C>T ENST00000356711.2 + 4 540 c.414C>T c.(412-414)aaC>aaT p.N138N MYO16_ENST00000357550.2_Silent_p.N138N|MYO16_ENST00000251041.5_Silent_p.N138N NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 138 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CCTGCGATAACCCTGATATTG 0.403000 53 33 0 0 0.139131 0 0 TTYH3 80727 broad.mit.edu 37 7 2686504 2686504 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:2686504G>A ENST00000258796.7 + 2 346 c.141G>A c.(139-141)ggG>ggA p.G47G TTYH3_ENST00000407643.1_Silent_p.G47G NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 47 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) TGCTCCTGGGGGCCGCCGCCC 0.731000 42 4 0 0 0.139131 0 0 HLA-DOA 3111 broad.mit.edu 37 6 32975833 32975833 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:32975833C>T ENST00000229829.5 - 2 363 c.288G>A c.(286-288)ctG>ctA p.L96L HLA-DOA_ENST00000450833.2_Silent_p.L66L|HLA-DOA_ENST00000495532.1_5'UTR NM_002119.3 NP_002110.1 P06340 DOA_HUMAN major histocompatibility complex, class II, DO alpha 96 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1) 9 CCAGGATGTCCAGATGGGCTT 0.637000 25 54 0 0 0.099896 0 0 ZNF581 51545 broad.mit.edu 37 19 56156051 56156051 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:56156051C>T ENST00000587252.1 + 2 387 c.114C>T c.(112-114)tcC>tcT p.S38S ZNF581_ENST00000588537.1_Silent_p.S38S|ZNF581_ENST00000270451.5_Silent_p.S38S Q9P0T4 ZN581_HUMAN zinc finger protein 581 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CTTCCTCCTCCATCGGATCTC 0.612000 4 7 0 0 0.014758 0 0 DAO 1610 broad.mit.edu 37 12 109278890 109278890 + Silent SNP G G T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:109278890G>T ENST00000228476.3 + 2 312 c.108G>T c.(106-108)gcG>gcT p.A36A DAO_ENST00000551281.1_Silent_p.A36A NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 36 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 AGGTCTACGCGGACCGCTTCA 0.622000 44 52 5.73435e-26 7.12038e-26 0.139131 1 0 KLF6 1316 broad.mit.edu 37 10 3824211 3824211 + Missense_Mutation SNP C C G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:3824211C>G ENST00000497571.1 - 2 558 c.298G>C c.(298-300)Gag>Cag p.E100Q KLF6_ENST00000542957.1_Missense_Mutation_p.E100Q|KLF6_ENST00000469435.1_Missense_Mutation_p.E100Q|KLF6_ENST00000173785.4_5'UTR NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 100 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) CTGTTGGTCTCTAAGTTGTAA 0.507000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 121 119 0 0 0.139131 0 0 DMGDH 29958 broad.mit.edu 37 5 78359493 78359493 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:78359493C>T ENST00000255189.3 - 2 247 c.219G>A c.(217-219)atG>atA p.M73I DMGDH_ENST00000540686.1_5'UTR|DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.E29K NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 73 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CCACATCTTTCATCCCTGCTT 0.488000 36 68 0 0 0.064281 0 0 PCLO 27445 broad.mit.edu 37 7 82582166 82582166 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:82582166C>T ENST00000423517.2 - 5 8440 c.8103G>A c.(8101-8103)gaG>gaA p.E2701E PCLO_ENST00000333891.8_Silent_p.E2701E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2632 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GAGCAAGAGGCTCTGGAGGAA 0.403000 14 27 0 0 0.119110 0 0 TRBV24-1 28563 broad.mit.edu 37 7 142364267 142364267 + RNA SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:142364267T>C ENST00000390397.2 + 0 70 TGGGGCCTTTTATCTCCTGGG 0.498000 12 16 0 0 0.119110 0 0 MAT2A 4144 broad.mit.edu 37 2 85770052 85770052 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:85770052C>T ENST00000306434.3 + 8 1103 c.980C>T c.(979-981)cCa>cTa p.P327L MAT2A_ENST00000409017.1_Missense_Mutation_p.P264L NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 327 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GTTTCTCATCCATTATCTATC 0.378000 39 74 0 0 0.098360 0 0 OR7G1 125962 broad.mit.edu 37 19 9225585 9225585 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:9225585C>T ENST00000293614.1 - 1 854 c.855G>A c.(853-855)atG>atA p.M285I OR7G1_ENST00000541538.1_Missense_Mutation_p.M285I Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 TGAAGGGGTTCATCATTTGAG 0.443000 47 42 0 0 0.139131 0 0 UBR3 130507 broad.mit.edu 37 2 170930037 170930037 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:170930037C>T ENST00000272793.5 + 36 5169 c.5119C>T c.(5119-5121)Cca>Tca p.P1707S UBR3_ENST00000418381.1_Missense_Mutation_p.P1707S|UBR3_ENST00000392631.1_Missense_Mutation_p.P528S Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1707 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TCTGGATTGGCCAGTTCCAGC 0.403000 5 109 0 0 0.021553 0 0 GIGYF1 64599 broad.mit.edu 37 7 100281709 100281709 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:100281709G>A ENST00000275732.5 - 15 3011 c.1802C>T c.(1801-1803)cCg>cTg p.P601L NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 601 Gln-rich.|Poly-Pro. central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTGCTGTGGCGGCGGCGGTGG 0.677000 21 18 0 0 0.099896 0 0 DPYD 1806 broad.mit.edu 37 1 97981303 97981303 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:97981303G>A ENST00000370192.3 - 13 1819 c.1719C>T c.(1717-1719)acC>acT p.T573T NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 573 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGAAAGTTTTGGTGAGGGCAA 0.333000 35 38 0 0 0.080422 0 0 DSN1 79980 broad.mit.edu 37 20 35387003 35387003 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:35387003G>A ENST00000426836.1 - 7 980 c.608C>T c.(607-609)tCt>tTt p.S203F DSN1_ENST00000373740.3_Missense_Mutation_p.S131F|DSN1_ENST00000448110.1_Missense_Mutation_p.S187F|DSN1_ENST00000373734.4_Missense_Mutation_p.S96F|DSN1_ENST00000373750.4_Missense_Mutation_p.S203F|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Missense_Mutation_p.S203F NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 203 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) TGCTTCCAAAGAAAAATCTGA 0.289000 43 134 0 0 0.139131 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6083437 6083437 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:6083437C>T ENST00000409021.3 - 6 1449 c.1000G>A c.(1000-1002)Gag>Aag p.E334K JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E169K|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E334K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E334K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E169K NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 334 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TTGTTCTTCTCCACCAGGGGC 0.522000 31 33 0 0 0.045705 0 0 DMRT3 58524 broad.mit.edu 37 9 990879 990879 + Silent SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr9:990879A>G ENST00000190165.2 + 2 1331 c.1293A>G c.(1291-1293)gaA>gaG p.E431E NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 431 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GCGCCACGGAAGACCCTCGGA 0.547000 38 42 0 0 0.080422 0 0 DNAH5 1767 broad.mit.edu 37 5 13735336 13735336 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:13735336C>T ENST00000265104.4 - 68 11769 c.11665G>A c.(11665-11667)Gag>Aag p.E3889K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3889 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTGTGCTCCTCGTACAGCCCT 0.458000 Kartagener syndrome 23 72 0 0 0.076483 0 0 ODF2 4957 broad.mit.edu 37 9 131256911 131256911 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr9:131256911C>T ENST00000303890.5 + 19 2388 c.1803C>T c.(1801-1803)atC>atT p.I601I ODF2_ENST00000444119.2_Silent_p.I601I|ODF2_ENST00000546203.1_Silent_p.I606I|ODF2_ENST00000372807.5_Silent_p.I620I|ODF2_ENST00000372814.3_Silent_p.I669I|ODF2_ENST00000372796.4_Silent_p.I625I|ODF2_ENST00000434106.2_Silent_p.I625I|ODF2_ENST00000393533.2_Silent_p.I625I|ODF2_ENST00000351030.3_Silent_p.I620I|ODF2_ENST00000448249.3_Silent_p.I544I|ODF2_ENST00000372791.3_Silent_p.I606I NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 625 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GGAAGAACATCGACCTCACAG 0.597000 26 32 0 0 0.108266 0 0 ZMYM3 9203 broad.mit.edu 37 X 70467680 70467680 + Missense_Mutation SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chrX:70467680C>A ENST00000373998.1 - 12 2749 c.2052G>T c.(2050-2052)caG>caT p.Q684H ZMYM3_ENST00000353904.2_Missense_Mutation_p.Q684H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.Q686H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.Q686H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.Q684H NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 684 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GCTGGCAGGTCTGGGAGCAGT 0.527000 13 0 0.000219431 0.000262516 0.119110 1 0 OSBPL10 114884 broad.mit.edu 37 3 31743863 31743863 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:31743863C>T ENST00000396556.2 - 7 1355 c.1233G>A c.(1231-1233)atG>atA p.M411I OSBPL10_ENST00000438237.2_Missense_Mutation_p.M347I NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 411 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) TGGTCAAATCCATTCCAAGTT 0.428000 11 27 0 0 0.080935 0 0 DSCR10 259234 broad.mit.edu 37 21 39580587 39580587 + RNA SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr21:39580587G>A ENST00000432141.1 + 0 709 NR_027695.1 CTAACATTTGGAAACATTTAG 0.353000 84 14 0 0 0.139131 0 0 MECOM 2122 broad.mit.edu 37 3 168819935 168819935 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:168819935G>A ENST00000464456.1 - 9 3293 c.2093C>T c.(2092-2094)tCa>tTa p.S698L MECOM_ENST00000472280.1_Missense_Mutation_p.S708L|MECOM_ENST00000392736.3_Missense_Mutation_p.S707L|MECOM_ENST00000433243.2_Missense_Mutation_p.S708L|MECOM_ENST00000468789.1_Missense_Mutation_p.S707L|MECOM_ENST00000264674.3_Missense_Mutation_p.S772L|MECOM_ENST00000460814.1_Missense_Mutation_p.S698L|MECOM_ENST00000494292.1_Missense_Mutation_p.S886L NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 AGAGGGCACTGACTGTAAGAG 0.507000 28 23 0 0 0.099896 0 0 BAGE2 85319 broad.mit.edu 37 21 11058288 11058288 + RNA SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr21:11058288G>A ENST00000470054.1 - 0 359 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CACAGCATTTGATAGTGGCTC 0.403000 11 130 0 0 0.069234 0 0 STAB2 55576 broad.mit.edu 37 12 103984724 103984724 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:103984724G>A ENST00000388887.2 + 2 335 c.131G>A c.(130-132)cGa>cAa p.R44Q NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 44 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ACCGAGTGCCGATCCTGCGCT 0.433000 31 37 0 0 0.134883 0 0 KHDC3L 154288 broad.mit.edu 37 6 74072991 74072991 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:74072991G>A ENST00000370367.3 + 2 396 c.343G>A c.(343-345)Gcg>Acg p.A115T NM_001017361.2 NP_001017361.1 KH domain containing 3-like, subcortical maternal complex member CCAGCTCCAGGCGAAAGGTAC 0.582000 37 46 0 0 0.074837 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685019 44685019 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:44685019G>A ENST00000454036.1 + 23 3071 c.2995G>A c.(2995-2997)Gat>Aat p.D999N SLC12A5_ENST00000243964.3_Missense_Mutation_p.D976N NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 999 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCTGATCCACGATCAGAGTGC 0.627000 8 41 0 0 0.038147 0 0 TADA2B 93624 broad.mit.edu 37 4 7056555 7056555 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:7056555C>T ENST00000310074.7 + 2 1226 c.1037C>T c.(1036-1038)cCa>cTa p.P346L TADA2B_ENST00000512388.1_Missense_Mutation_p.P271L|TADA2B_ENST00000515646.1_Missense_Mutation_p.P254L NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 GAGAACCTTCCAGGCTTCGAG 0.512000 49 58 0 0 0.139131 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50191101 50191101 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:50191101G>A ENST00000335999.6 - 8 743 c.542C>T c.(541-543)tCc>tTc p.S181F NM_001037806.3 NP_001032895.2 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 177 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 AAGGAACGGGGATAGGGCATC 0.647000 13 20 0 0 0.105934 0 0 WDR1 9948 broad.mit.edu 37 4 10100722 10100722 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:10100722C>T ENST00000382452.2 - 4 553 c.271G>A c.(271-273)Gag>Aag p.E91K WDR1_ENST00000502702.1_Intron|WDR1_ENST00000382451.2_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.E91K NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 91 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) AACAGGTGCTCCTTCTGCGTG 0.597000 30 47 0 0 0.050027 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31973529 31973529 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:31973529G>A ENST00000357886.4 - 7 956 c.803C>T c.(802-804)cCt>cTt p.P268L CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.P268L|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.P178L|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.P268L|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.P268L Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 268 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 CCGGGTGAAAGGAACAATGCA 0.498000 41 181 0 0 0.092188 0 0 THAP10 56906 broad.mit.edu 37 15 71174870 71174870 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr15:71174870C>T ENST00000249861.4 - 3 1209 c.697G>A c.(697-699)Gat>Aat p.D233N LRRC49_ENST00000544974.2_Intron NM_020147.3 NP_064532.1 Q9P2Z0 THA10_HUMAN THAP domain containing 10 233 DNA binding|metal ion binding NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CAGTCTGTATCTGTTTCTGAA 0.383000 54 79 0 0 0.139131 0 0 FAM129C 199786 broad.mit.edu 37 19 17648329 17648329 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:17648329G>A ENST00000335393.4 + 6 803 c.665G>A c.(664-666)gGt>gAt p.G222D FAM129C_ENST00000595684.1_Missense_Mutation_p.G222D|FAM129C_ENST00000352727.3_Missense_Mutation_p.G222D|FAM129C_ENST00000599164.1_Missense_Mutation_p.G191D|FAM129C_ENST00000332386.5_Missense_Mutation_p.G222D|FAM129C_ENST00000600871.1_Missense_Mutation_p.G168D|FAM129C_ENST00000300971.2_Missense_Mutation_p.G222D|FAM129C_ENST00000599124.1_Missense_Mutation_p.G191D|FAM129C_ENST00000601861.1_Missense_Mutation_p.G191D|FAM129C_ENST00000449408.2_5'UTR NM_173544.4 NP_775815.2 Q86XR2 NIBL2_HUMAN family with sequence similarity 129, member C 222 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1) 33 GCCCTGCAGGGTGGCATCCGG 0.642000 39 40 0 0 0.098360 0 0 CSMD3 114788 broad.mit.edu 37 8 113275867 113275867 + Splice_Site SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr8:113275867C>T ENST00000297405.5 - 61 10107 c.e61+1 CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATCATACTTACGTAAGCACTG 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 12 0 0 0.069234 0 0 CCDC146 57639 broad.mit.edu 37 7 76903049 76903049 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:76903049G>A ENST00000285871.4 + 10 1339 c.1212G>A c.(1210-1212)gaG>gaA p.E404E CCDC146_ENST00000415740.2_Intron|CCDC146_ENST00000431197.1_Intron NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 404 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) CATTATCTGAGAGAAGGCGAG 0.378000 46 54 0 0 0.139131 0 0 PHOX2B 8929 broad.mit.edu 37 4 41747973 41747973 + Missense_Mutation SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:41747973C>A ENST00000226382.2 - 3 1155 c.796G>T c.(796-798)Gct>Tct p.A266S NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 266 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.A266T(1) autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 GGGCCCCCAGCCGCAGCCAGG 0.771000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 6 9 2.0095e-06 2.43745e-06 0.029380 1 0 CCDC60 160777 broad.mit.edu 37 12 119968748 119968748 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:119968748G>A ENST00000327554.2 + 13 1896 c.1431G>A c.(1429-1431)gtG>gtA p.V477V RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 477 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) AGATCCTGGTGAAACTGCAGA 0.498000 51 50 0 0 0.139131 0 0 SCNN1D 6339 broad.mit.edu 37 1 1221515 1221515 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:1221515C>T ENST00000338555.2 + 4 1420 c.276C>T c.(274-276)tcC>tcT p.S92S SCNN1D_ENST00000400928.3_Silent_p.S92S|SCNN1D_ENST00000379116.5_Silent_p.S256S|SCNN1D_ENST00000325425.8_Silent_p.S158S sodium channel, non-voltage-gated 1, delta subunit lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) GGCTGCTGTCCCTGGGAGCCC 0.677000 9 11 0 0 0.058154 0 0 ABCC8 6833 broad.mit.edu 37 11 17498277 17498277 + Missense_Mutation SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:17498277C>A ENST00000302539.4 - 1 172 c.47G>T c.(46-48)cGg>cTg p.R16L ABCC8_ENST00000389817.3_Missense_Mutation_p.R16L NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 16 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTGGTCCACCCGGTAGGCGGC 0.682000 5 238 0.00116845 0.00137898 0.021553 1 0 FCAR 2204 broad.mit.edu 37 19 55401098 55401098 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:55401098C>T ENST00000391723.3 + 4 623 c.623C>T c.(622-624)aCt>aTt p.T208I FCAR_ENST00000353758.4_Silent_p.L136L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000355524.3_Silent_p.L245L|FCAR_ENST00000391725.3_Silent_p.L223L|FCAR_ENST00000391724.3_Silent_p.L211L|FCAR_ENST00000391726.3_Silent_p.L137L|FCAR_ENST00000345937.4_Silent_p.L149L|FCAR_ENST00000359272.4_Silent_p.L233L NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CTTGGCCATACTGGTTGAAAA 0.542000 153 166 0 0 0.139131 0 0 KMT2C 58508 broad.mit.edu 37 7 151849907 151849907 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:151849907C>T ENST00000355193.2 - 50 12798 c.12580G>A c.(12580-12582)Gag>Aag p.E4194K KMT2C_ENST00000262189.6_Missense_Mutation_p.E4137K lysine (K)-specific methyltransferase 2C TGTCGATACTCCAAACCCGGG 0.522000 47 56 0 0 0.139131 0 0 CYP4F8 11283 broad.mit.edu 37 19 15739173 15739173 + RNA SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:15739173C>T ENST00000441682.2 + 0 1238 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 GCGGTTGCATCCCCCAATCCC 0.612000 53 62 0 0 0.139131 0 0 MCM8 84515 broad.mit.edu 37 20 5953775 5953775 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:5953775C>T ENST00000378896.3 + 12 1705 c.1328C>T c.(1327-1329)cCa>cTa p.P443L MCM8_ENST00000378886.2_Missense_Mutation_p.P483L|MCM8_ENST00000378883.1_Intron|MCM8_ENST00000265187.4_Missense_Mutation_p.P427L NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 443 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 AACAGAATTCCAATTCGGGGA 0.413000 48 34 0 0 0.139131 0 0 HNF1B 6928 broad.mit.edu 37 17 36093584 36093584 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr17:36093584C>T ENST00000225893.4 - 3 1136 c.775G>A c.(775-777)Gaa>Aaa p.E259K HNF1B_ENST00000561193.1_Missense_Mutation_p.E233K|HNF1B_ENST00000427275.2_Missense_Mutation_p.E233K|HNF1B_ENST00000560016.1_Missense_Mutation_p.E259K NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 259 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E259Q(1) breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TCTCTCTCTTCCTTGCTGGGG 0.587000 201 241 0 0 0.139131 0 0 TPCN2 219931 broad.mit.edu 37 11 68822718 68822718 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:68822718G>A ENST00000294309.3 + 4 428 c.327G>A c.(325-327)gcG>gcA p.A109A TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.A109A NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 109 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CCAGCACGGCGGACGTGCGCT 0.587000 35 61 0 0 0.050027 0 0 GLRB 2743 broad.mit.edu 37 4 158059978 158059978 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:158059978G>A ENST00000264428.4 + 7 898 c.628G>A c.(628-630)Gat>Aat p.D210N GLRB_ENST00000541722.1_Missense_Mutation_p.D210N|GLRB_ENST00000509282.1_Missense_Mutation_p.D210N|GLRB_ENST00000512619.1_Intron NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 210 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity p.D210N(1) central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) CACAACTGATGATTTACGATT 0.259000 38 56 0 0 0.117977 0 0 CDH23 64072 broad.mit.edu 37 10 73437212 73437212 + Splice_Site SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:73437212G>A ENST00000224721.6 + 15 1534 c.e15-1 CDH23_ENST00000299366.7_Splice_Site NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCCTGGCACAGGTTCTCGCTG 0.577000 3 6 0 0 0.115264 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505869 44505869 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:44505869C>T ENST00000255152.2 + 2 881 c.672C>T c.(670-672)caC>caT p.H224H ZSWIM3_ENST00000454862.2_Silent_p.H218H NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 224 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) TCTTGCTACACCGGGTGGAGA 0.557000 42 171 0 0 0.111260 0 0 CLU 1191 broad.mit.edu 37 8 27462570 27462570 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr8:27462570G>A ENST00000316403.10 - 5 1105 c.700C>T c.(700-702)Ccg>Tcg p.P234S CLU_ENST00000523500.1_Missense_Mutation_p.P234S|CLU_ENST00000560366.1_Missense_Mutation_p.P286S|CLU_ENST00000546343.1_Missense_Mutation_p.P245S|CLU_ENST00000405140.3_Missense_Mutation_p.P234S P10909 CLUS_HUMAN clusterin 234 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GGCTCGTACGGAGAGAAGGGC 0.592000 32 47 0 0 0.064281 0 0 PGD 5226 broad.mit.edu 37 1 10479478 10479478 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:10479478C>T ENST00000538557.1 + 12 1419 c.1175C>T c.(1174-1176)tCc>tTc p.S392F PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Missense_Mutation_p.S383F|PGD_ENST00000270776.8_Missense_Mutation_p.S405F P52209 6PGD_HUMAN phosphogluconate dehydrogenase 405 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) GCTCAGGACTCCTGGCGGCGG 0.522000 42 59 0 0 0.131918 0 0 ETV5 2119 broad.mit.edu 37 3 185783821 185783821 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:185783821G>A ENST00000306376.5 - 8 937 c.691C>T c.(691-693)Cct>Tct p.P231S ETV5_ENST00000434744.1_Missense_Mutation_p.P231S|ETV5_ENST00000537818.1_Missense_Mutation_p.P273S NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 231 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) CCTGGCTGAGGAGGGAAGGGG 0.488000 T """TMPRSS2, SCL45A3""" Prostate 32 37 0 0 0.045705 0 0 CYP2C19 1557 broad.mit.edu 37 10 96535148 96535148 + Splice_Site SNP A A G rs5030781 TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:96535148A>G ENST00000371321.3 + 3 415 c.331_splice c.e3-1 p.G111_splice CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 111 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TCCTGTTAGGAATCGTTTTCA 0.532000 38 34 0 0 0.080422 0 0 CSMD1 64478 broad.mit.edu 37 8 3008933 3008933 + Missense_Mutation SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr8:3008933A>G ENST00000520002.1 - 41 6575 c.6020T>C c.(6019-6021)tTa>tCa p.L2007S CSMD1_ENST00000602723.1_Missense_Mutation_p.L2007S|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2007S|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2007S|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2006S|CSMD1_ENST00000539096.1_Missense_Mutation_p.L2006S|CSMD1_ENST00000537824.1_Missense_Mutation_p.L2006S|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2007 CUB 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCCGATGGGTAATGAGATCCT 0.448000 5 6 0 0 0.021553 0 0 MN1 4330 broad.mit.edu 37 22 28194068 28194068 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr22:28194068G>A ENST00000302326.4 - 1 3418 c.2464C>T c.(2464-2466)Cag>Tag p.Q822* NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 822 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 AGGCAGCTCTGGCCGAACAGG 0.627000 T ETV6 """AML, meningioma""" 44 10 0 0 0.117977 0 0 UNC93A 54346 broad.mit.edu 37 6 167709750 167709750 + Splice_Site SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:167709750G>A ENST00000230256.3 + 3 674 c.e3+1 UNC93A_ENST00000366829.2_Splice_Site NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) integral to membrane|plasma membrane p.?(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) CCCAGCCAAGGTAAAAGGAAA 0.502000 31 52 0 0 0.050027 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 6 73 0 0 0.047766 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106685403 106685403 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:106685403G>A ENST00000265717.4 + 1 310 c.51G>A c.(49-51)acG>acA p.T17T NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 17 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 AGGGCTTCACGGTGGAGGTGC 0.726000 3 8 0 0 0.115264 0 0 ACAN 176 broad.mit.edu 37 15 89402420 89402420 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr15:89402420C>T ENST00000439576.2 + 12 6978 c.6604C>T c.(6604-6606)Ctg>Ttg p.L2202L ACAN_ENST00000559004.1_Silent_p.L2202L|ACAN_ENST00000561243.1_Silent_p.L2202L|ACAN_ENST00000352105.7_Silent_p.L2202L NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2202 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGCGGAGACCTGTCTGGTCA 0.602000 42 40 0 0 0.111260 0 0 ADH1B 125 broad.mit.edu 37 4 100237120 100237120 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:100237120C>T ENST00000305046.8 - 5 569 c.502G>A c.(502-504)Gag>Aag p.E168K ADH1B_ENST00000394887.3_Missense_Mutation_p.E128K P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 168 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) CAGACTTTCTCCAGGGGCGAG 0.517000 39 72 0 0 0.098360 0 0 TP63 8626 broad.mit.edu 37 3 189455576 189455576 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:189455576G>A ENST00000264731.3 + 2 199 c.110G>A c.(109-111)cGa>cAa p.R37Q TP63_ENST00000392460.3_Missense_Mutation_p.R37Q|TP63_ENST00000440651.2_Missense_Mutation_p.R37Q|TP63_ENST00000418709.2_Missense_Mutation_p.R37Q|TP63_ENST00000382063.4_Missense_Mutation_p.R37Q|TP63_ENST00000320472.5_Missense_Mutation_p.R37Q NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 37 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AGTTATTACCGATCCACCATG 0.373000 HNSCC(45;0.13) 23 29 0 0 0.091800 0 0 GLRA3 8001 broad.mit.edu 37 4 175709987 175709987 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:175709987C>T ENST00000274093.3 - 2 681 c.179G>A c.(178-180)aGa>aAa p.R60K GLRA3_ENST00000340217.5_Missense_Mutation_p.R60K NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 60 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GGGTCTGATTCTTGCATCATA 0.358000 24 33 0 0 0.108266 0 0 TJP3 27134 broad.mit.edu 37 19 3736281 3736281 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:3736281G>A ENST00000541714.2 + 11 1708 c.1246G>A c.(1246-1248)Gac>Aac p.D416N TJP3_ENST00000587686.1_Missense_Mutation_p.D435N|TJP3_ENST00000539908.2_Missense_Mutation_p.D380N|TJP3_ENST00000262968.9_Missense_Mutation_p.D449N|TJP3_ENST00000382008.3_Missense_Mutation_p.D430N|TJP3_ENST00000589378.1_Missense_Mutation_p.D425N NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 430 PDZ 3. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCCCGGCCGACGGGCAGGG 0.687000 13 12 0 0 0.105934 0 0 GALNT8 26290 broad.mit.edu 37 12 4835834 4835834 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:4835834G>A ENST00000252318.2 + 2 685 c.348G>A c.(346-348)atG>atA p.M116I RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 116 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.M116I(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 AAACCCAAATGAAACTCTTCC 0.498000 15 17 0 0 0.119110 0 0 TCEB3CL 728929 broad.mit.edu 37 18 44549197 44549197 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr18:44549197C>T ENST00000451265.1 - 1 1337 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_001100817.1 NP_001094287.1 transcription elongation factor B polypeptide 3C-like central_nervous_system(1)|lung(1)|prostate(1) 3 GTCCACCCTTCCAGAACGGGT 0.607000 39 1453 0 0 0.108266 0 0 CNBD2 140894 broad.mit.edu 37 20 34571961 34571961 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:34571961C>T ENST00000373973.3 + 5 638 c.465C>T c.(463-465)ttC>ttT p.F155F CNBD2_ENST00000538900.1_Silent_p.F155F|CNBD2_ENST00000349339.1_Silent_p.F155F cyclic nucleotide binding domain containing 2 GCTTTTATTTCATCTACCTGG 0.522000 158 41 0 0 0.139131 0 0 EFR3A 23167 broad.mit.edu 37 8 132998461 132998461 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr8:132998461G>A ENST00000254624.5 + 17 2115 c.1890G>A c.(1888-1890)atG>atA p.M630I EFR3A_ENST00000334503.4_Missense_Mutation_p.M630I|EFR3A_ENST00000519656.1_Missense_Mutation_p.M594I NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 630 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TTCGAACTATGGAAGCCCCTT 0.333000 8 28 0 0 0.093190 0 0 IGHV3-74 28408 broad.mit.edu 37 14 107219125 107219125 + RNA SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr14:107219125T>C ENST00000424969.2 - 0 240 CAGCCCAAACTCCATGGTGAG 0.502000 52 16 0 0 0.139131 0 0 FSHB 2488 broad.mit.edu 37 11 30255226 30255226 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:30255226C>T ENST00000417547.1 + 3 308 c.269C>T c.(268-270)tCc>tTc p.S90F FSHB_ENST00000533718.1_Missense_Mutation_p.S90F|FSHB_ENST00000254122.3_Missense_Mutation_p.S90F NM_001018080.1 NP_001018090.1 P01225 FSHB_HUMAN follicle stimulating hormone, beta polypeptide 90 cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway cytoplasm|extracellular region|soluble fraction follicle-stimulating hormone activity|protein heterodimerization activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 12 Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094) CATGCAGATTCCTTGTATACA 0.537000 34 35 0 0 0.064281 0 0 TBC1D12 23232 broad.mit.edu 37 10 96201752 96201752 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:96201752G>A ENST00000225235.4 + 2 1181 c.1071G>A c.(1069-1071)caG>caA p.Q357Q NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 357 Q -> G (in Ref. 3; CAB43225). intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) AGAATCTTCAGAAAACATCCA 0.358000 18 27 0 0 0.049695 0 0 KRT13 3860 broad.mit.edu 37 17 39659243 39659243 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr17:39659243G>A ENST00000246635.3 - 4 889 c.843C>T c.(841-843)taC>taT p.Y281Y KRT13_ENST00000587544.1_Silent_p.Y281Y|KRT13_ENST00000336861.3_Silent_p.Y281Y NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 281 Coil 2.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) CCATGGCCTCGTACTGCTCCC 0.612000 101 110 0 0 0.139131 0 0 RPLP0P6 220717 broad.mit.edu 37 2 38709407 38709407 + RNA SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:38709407C>T ENST00000417039.1 - 0 696 CTCCTTTTTCCAGGCTTTAGG 0.552000 18 26 0 0 0.049695 0 0 ZNF581 51545 broad.mit.edu 37 19 56156050 56156050 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:56156050C>T ENST00000587252.1 + 2 386 c.113C>T c.(112-114)tCc>tTc p.S38F ZNF581_ENST00000588537.1_Missense_Mutation_p.S38F|ZNF581_ENST00000270451.5_Missense_Mutation_p.S38F Q9P0T4 ZN581_HUMAN zinc finger protein 581 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CCTTCCTCCTCCATCGGATCT 0.612000 4 7 0 0 0.014758 0 0 TECR 9524 broad.mit.edu 37 19 14674675 14674675 + Missense_Mutation SNP T T A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:14674675T>A ENST00000436007.2 + 6 396 c.272T>A c.(271-273)cTg>cAg p.L91Q TECR_ENST00000596164.1_3'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.L76Q|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 76 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 ACGGCCACACTGTACTTCCGG 0.642000 35 29 0 0 0.059317 0 0 BMP5 653 broad.mit.edu 37 6 55684502 55684502 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:55684502C>T ENST00000370830.3 - 2 1332 c.634G>A c.(634-636)Gaa>Aaa p.E212K BMP5_ENST00000446683.2_Missense_Mutation_p.E212K NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 212 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TTAATTGTTTCATTTTCAAAT 0.323000 24 23 0 0 0.108266 0 0 C5AR1 728 broad.mit.edu 37 19 47823556 47823556 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:47823556C>T ENST00000355085.3 + 2 544 c.522C>T c.(520-522)taC>taT p.Y174Y NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 174 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CCTTCCTGTACCGGGTGGTCC 0.637000 66 86 0 0 0.139131 0 0 FAM179A 165186 broad.mit.edu 37 2 29240119 29240119 + Missense_Mutation SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:29240119C>A ENST00000379558.4 + 9 1495 c.1144C>A c.(1144-1146)Cag>Aag p.Q382K FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Missense_Mutation_p.Q382K NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 382 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGGACAGGGCAGGAGCTCAC 0.602000 17 35 0.000566183 0.000671222 0.033300 1 0 CNTNAP2 26047 broad.mit.edu 37 7 147926820 147926820 + Silent SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:147926820A>G ENST00000361727.3 + 20 3846 c.3330A>G c.(3328-3330)ggA>ggG p.G1110G CNTNAP2_ENST00000538075.1_Silent_p.G169G NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1110 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGCCAATGGACAGCCCCACA 0.423000 HNSCC(39;0.1) 10 17 0 0 0.058154 0 0 MCF2L2 23101 broad.mit.edu 37 3 182925450 182925450 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:182925450C>T ENST00000328913.3 - 23 2955 c.2658G>A c.(2656-2658)atG>atA p.M886I MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.M886I NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 886 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CCCCAGGCTCCATTCGTATCT 0.433000 48 78 0 0 0.139131 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G G T rs121913254 TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:115256530G>T ENST00000369535.4 - 3 434 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 70 84 6.88731e-43 8.59274e-43 0.139131 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125282027 125282027 + Missense_Mutation SNP G G T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:125282027G>T ENST00000431078.1 + 9 1836 c.1472G>T c.(1471-1473)gGa>gTa p.G491V NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 491 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TACTATTTTGGAGGTAAATTC 0.438000 4 10 2.56e-06 3.09088e-06 0.009096 1 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 3 15 0 0 0.115264 0 0 OR5H6 79295 broad.mit.edu 37 3 97983771 97983771 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:97983771G>A ENST00000383696.2 + 1 684 c.643G>A c.(643-645)Gtt>Att p.V215I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTTTCTAATGGTTTTTATTTT 0.289000 29 19 0 0 0.108266 0 0 ZNF714 148206 broad.mit.edu 37 19 21299966 21299966 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:21299966C>T ENST00000596143.1 + 5 821 c.496C>T c.(496-498)Cat>Tat p.H166Y ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR NM_182515.3 NP_872321.2 Q96N38 ZN714_HUMAN zinc finger protein 714 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 TAAAAGAATTCATATTAGAGA 0.348000 18 34 0 0 0.043863 0 0 LANCL2 55915 broad.mit.edu 37 7 55466279 55466279 + Silent SNP T T C TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:55466279T>C ENST00000254770.2 + 3 1064 c.486T>C c.(484-486)taT>taC p.Y162Y LANCL2_ENST00000486376.1_3'UTR NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 162 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) CTGTGATTTATCACAAACTCA 0.488000 13 40 0 0 0.119110 0 0 PIK3R1 5295 broad.mit.edu 37 5 67576528 67576528 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:67576528C>T ENST00000521381.1 + 6 1423 c.807C>T c.(805-807)agC>agT p.S269S PIK3R1_ENST00000274335.5_Silent_p.S269S|PIK3R1_ENST00000396611.1_Silent_p.S269S|PIK3R1_ENST00000521657.1_Silent_p.S269S NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 269 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) AAATTTTCAGCCCTATGCTTT 0.393000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 56 30 0 0 0.139131 0 0 OR2T12 127064 broad.mit.edu 37 1 248458416 248458416 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:248458416G>A ENST00000317996.1 - 1 464 c.465C>T c.(463-465)ctC>ctT p.L155L NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 155 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CAGCCTGCAGGAGGCCGTCAG 0.607000 43 47 0 0 0.131918 0 0 NCOR2 9612 broad.mit.edu 37 12 124856917 124856917 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:124856917G>A ENST00000356219.3 - 21 2613 c.2458C>T c.(2458-2460)Cct>Tct p.P820S NCOR2_ENST00000429285.2_Missense_Mutation_p.P802S|NCOR2_ENST00000405201.1_Missense_Mutation_p.P820S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P803S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P802S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P373S NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 820 Pro-rich. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGGACCACAGGAGGAGGTGCA 0.716000 7 10 0 0 0.029380 0 0 RRP9 9136 broad.mit.edu 37 3 51971239 51971239 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:51971239G>A ENST00000232888.6 - 6 559 c.486C>T c.(484-486)ttC>ttT p.F162F NM_004704.3 NP_004695.1 O43818 U3IP2_HUMAN ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) 162 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) TGGCAGCAGAGAAGATGGCTG 0.607000 64 66 0 0 0.139131 0 0 WNK1 65125 broad.mit.edu 37 12 988854 988854 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:988854C>T ENST00000315939.6 + 11 3132 c.2489C>T c.(2488-2490)cCg>cTg p.P830L WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1328L|WNK1_ENST00000340908.4_Missense_Mutation_p.P423L NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 830 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTGGGACAGCCGCTCCCTACT 0.542000 67 85 0 0 0.139131 0 0 PRR5L 79899 broad.mit.edu 37 11 36467960 36467960 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:36467960G>A ENST00000378867.3 + 8 910 c.555G>A c.(553-555)tcG>tcA p.S185S PRR5L_ENST00000311599.5_Intron|PRR5L_ENST00000530639.1_Silent_p.S185S|PRR5L_ENST00000527487.1_Silent_p.S185S|PRR5L_ENST00000389693.3_Intron NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 185 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 AGCTGCCCTCGTCCATTGTCC 0.587000 24 29 0 0 0.108266 0 0 MARCH6 10299 broad.mit.edu 37 5 10430029 10430029 + Nonsense_Mutation SNP T T A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:10430029T>A ENST00000274140.5 + 25 2663 c.2531T>A c.(2530-2532)tTa>tAa p.L844* MARCH6_ENST00000449913.2_Nonsense_Mutation_p.L796*|MARCH6_ENST00000510792.1_Nonsense_Mutation_p.L542*|MARCH6_ENST00000503788.1_Nonsense_Mutation_p.L739* NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 844 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 ATGCAAAACTTAGTCCATCGG 0.388000 46 26 0 0 0.139131 0 0 MAB21L3 126868 broad.mit.edu 37 1 116675835 116675835 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr1:116675835G>A ENST00000369500.3 + 7 1203 c.938G>A c.(937-939)aGg>aAg p.R313K NM_152367.2 NP_689580.2 Q8N8X9 MB213_HUMAN mab-21-like 3 (C. elegans) 313 breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1) 19 CGCCTGGTGAGGAAACTGCAC 0.512000 28 28 0 0 0.125774 0 0 SP140 11262 broad.mit.edu 37 2 231177389 231177389 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:231177389G>A ENST00000392045.3 + 27 2708 c.2594G>A c.(2593-2595)gGg>gAg p.G865E SP140_ENST00000486687.2_Intron|SP140_ENST00000350136.5_Missense_Mutation_p.G734E|SP140_ENST00000343805.6_Missense_Mutation_p.G805E|SP140_ENST00000420434.3_Missense_Mutation_p.G838E|SP140_ENST00000417495.3_Missense_Mutation_p.G751E NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 865 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAAACAAATGGGAACAATTGA 0.408000 22 41 0 0 0.083992 0 0 KMT2C 58508 broad.mit.edu 37 7 151849908 151849908 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:151849908C>T ENST00000355193.2 - 50 12797 c.12579G>A c.(12577-12579)ttG>ttA p.L4193L KMT2C_ENST00000262189.6_Silent_p.L4136L lysine (K)-specific methyltransferase 2C GTCGATACTCCAAACCCGGGT 0.522000 50 58 0 0 0.139131 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020187 55020187 + Missense_Mutation SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr18:55020187A>G ENST00000324000.3 + 1 2144 c.110A>G c.(109-111)aAc>aGc p.N37S NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 37 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) AAAAAGGAGAACATCTTCACC 0.602000 27 37 0 0 0.116897 0 0 MAGT1 84061 broad.mit.edu 37 X 77112989 77112989 + Missense_Mutation SNP G G T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chrX:77112989G>T ENST00000358075.6 - 4 578 c.492C>A c.(490-492)aaC>aaA p.N164K NM_032121.5 NP_115497.4 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 132 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 CTGAATTCATGTTTAGCTGAA 0.368000 5 62 2.17888e-05 2.61865e-05 0.058154 1 0 CACNA1G 8913 broad.mit.edu 37 17 48695411 48695411 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr17:48695411G>A ENST00000352832.5 + 29 5499 c.5127G>A c.(5125-5127)gtG>gtA p.V1709V CACNA1G_ENST00000513689.2_Silent_p.V1698V|CACNA1G_ENST00000507510.2_Silent_p.V1743V|CACNA1G_ENST00000505165.1_Silent_p.V1743V|CACNA1G_ENST00000503485.1_Silent_p.V1709V|CACNA1G_ENST00000510366.1_Silent_p.V1691V|CACNA1G_ENST00000512389.1_Silent_p.V1732V|CACNA1G_ENST00000359106.5_Silent_p.V1743V|CACNA1G_ENST00000502264.1_Silent_p.V1720V|CACNA1G_ENST00000429973.2_Silent_p.V1725V|CACNA1G_ENST00000514079.1_Silent_p.V1750V|CACNA1G_ENST00000360761.4_Silent_p.V1720V|CACNA1G_ENST00000358244.5_Silent_p.V1709V|CACNA1G_ENST00000513964.1_Silent_p.V1698V|CACNA1G_ENST00000514181.1_Silent_p.V1718V|CACNA1G_ENST00000507336.1_Silent_p.V1732V|CACNA1G_ENST00000515765.1_Silent_p.V1732V|CACNA1G_ENST00000515411.1_Silent_p.V1725V|CACNA1G_ENST00000354983.4_Silent_p.V1709V|CACNA1G_ENST00000442258.2_Silent_p.V1702V|CACNA1G_ENST00000507896.1_Silent_p.V1732V|CACNA1G_ENST00000514717.1_Silent_p.V1686V|CACNA1G_ENST00000507609.1_Silent_p.V1736V|CACNA1G_ENST00000515165.1_Silent_p.V1743V|CACNA1G_ENST00000510115.1_Silent_p.V1709V NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1743 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TTTTCCAGGTGGGGAACCTGG 0.557000 19 23 0 0 0.055883 0 0 LPHN3 23284 broad.mit.edu 37 4 62761482 62761482 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr4:62761482G>A ENST00000512091.1 + 10 2360 c.1613G>A c.(1612-1614)gGa>gAa p.G538E LPHN3_ENST00000545650.1_Missense_Mutation_p.G538E|LPHN3_ENST00000507164.1_Missense_Mutation_p.G606E|LPHN3_ENST00000514591.1_Missense_Mutation_p.G538E|LPHN3_ENST00000507625.1_Missense_Mutation_p.G606E|LPHN3_ENST00000506746.1_Missense_Mutation_p.G606E|LPHN3_ENST00000514157.1_Missense_Mutation_p.G538E|LPHN3_ENST00000511324.1_Missense_Mutation_p.G606E|LPHN3_ENST00000508946.1_Missense_Mutation_p.G538E|LPHN3_ENST00000509896.1_Missense_Mutation_p.G606E|LPHN3_ENST00000506720.1_Missense_Mutation_p.G606E|LPHN3_ENST00000506700.1_Missense_Mutation_p.G538E|LPHN3_ENST00000508693.1_Missense_Mutation_p.G606E|LPHN3_ENST00000504896.1_Missense_Mutation_p.G538E|LPHN3_ENST00000514996.1_Missense_Mutation_p.G538E Q9HAR2 LPHN3_HUMAN latrophilin 3 538 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GCTCCTGATGGAATTTGGGAT 0.373000 9 14 0 0 0.058154 0 0 TMEM26 219623 broad.mit.edu 37 10 63170314 63170314 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr10:63170314C>T ENST00000399298.3 - 6 1241 c.873G>A c.(871-873)gcG>gcA p.A291A TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 291 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) GGAAGTTCTTCGCGGCAAAGA 0.507000 19 32 0 0 0.038395 0 0 RALGAPB 57148 broad.mit.edu 37 20 37146558 37146558 + Silent SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr20:37146558G>A ENST00000262879.6 + 9 1616 c.1332G>A c.(1330-1332)ttG>ttA p.L444L RALGAPB_ENST00000397038.1_Silent_p.L222L|RALGAPB_ENST00000397042.3_Silent_p.L444L|RALGAPB_ENST00000537204.1_Silent_p.L444L|RALGAPB_ENST00000397040.1_Silent_p.L444L Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 444 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACAGCATCTTGAATCTCTTTG 0.453000 103 55 0 0 0.139131 0 0 DAO 1610 broad.mit.edu 37 12 109278891 109278891 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr12:109278891G>A ENST00000228476.3 + 2 313 c.109G>A c.(109-111)Gac>Aac p.D37N DAO_ENST00000551281.1_Missense_Mutation_p.D37N NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 37 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 GGTCTACGCGGACCGCTTCAC 0.627000 43 52 0 0 0.139131 0 0 FPR2 2358 broad.mit.edu 37 19 52272840 52272840 + Missense_Mutation SNP G G C rs148745659 byFrequency TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr19:52272840G>C ENST00000598776.1 + 2 1701 c.929G>C c.(928-930)cGa>cCa p.R310P FPR2_ENST00000340023.6_Missense_Mutation_p.R310P|FPR2_ENST00000598953.1_Missense_Mutation_p.R310P NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 310 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 CAAGACTTCCGAGAGAGACTG 0.542000 37 43 0 0 0.080422 0 0 SACS 26278 broad.mit.edu 37 13 23915199 23915199 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr13:23915199G>A ENST00000382298.3 - 10 3404 c.2816C>T c.(2815-2817)tCc>tTc p.S939F SACS_ENST00000382292.3_Missense_Mutation_p.S939F|SACS_ENST00000402364.1_Missense_Mutation_p.S189F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 939 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGTATAAGAGGAAATTCCCTG 0.363000 66 41 0 0 0.139131 0 0 SPDL1 54908 broad.mit.edu 37 5 169028327 169028327 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:169028327C>T ENST00000265295.4 + 11 1647 c.1368C>T c.(1366-1368)ctC>ctT p.L456L NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 GTGAGGTGCTCCCTGTGGATA 0.443000 44 4 0 0 0.124865 0 0 NMBR 4829 broad.mit.edu 37 6 142396988 142396988 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr6:142396988G>A ENST00000258042.1 - 3 1110 c.970C>T c.(970-972)Ctt>Ttt p.L324F NMBR_ENST00000480652.1_5'UTR NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 324 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AGTAGGTAAAGAGCAAATGGG 0.458000 51 39 0 0 0.139131 0 0 KLHL23 151230 broad.mit.edu 37 2 170592455 170592455 + Missense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:170592455G>A ENST00000392647.2 + 2 1175 c.931G>A c.(931-933)Gag>Aag p.E311K KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.E311K NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 311 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 TTATACCAGGGAGAGCTATGG 0.423000 60 69 0 0 0.139131 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137376 40137376 + Missense_Mutation SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:40137376C>T ENST00000278198.2 - 2 2430 c.467G>A c.(466-468)cGa>cAa p.R156Q LRRC4C_ENST00000530763.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R156Q Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 156 regulation of axonogenesis integral to membrane protein binding p.R156Q(2) 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) GGGGTTGTTTCGCAACCAGAG 0.428000 21 53 0 0 0.062417 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332767 22332767 + RNA SNP C C A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr15:22332767C>A ENST00000558896.1 + 0 574 ACAGTTATGGCCTATGACAGG 0.502000 24 33 1.64293e-13 2.02089e-13 0.083992 1 0 NPVF 64111 broad.mit.edu 37 7 25266388 25266388 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr7:25266388C>T ENST00000222674.2 - 2 442 c.396G>A c.(394-396)ggG>ggA p.G132G NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 132 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 TTGTTGTTCTCCCAAACCTTT 0.478000 188 83 0 0 0.139131 0 0 TMEM63C 57156 broad.mit.edu 37 14 77702977 77702977 + Silent SNP C C T TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr14:77702977C>T ENST00000298351.4 + 9 697 c.553C>T c.(553-555)Ctg>Ttg p.L185L NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 185 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GAGCAAGCTCCTGTGGCTGCA 0.582000 36 10 0 0 0.069456 0 0 SLC22A20 440044 broad.mit.edu 37 11 65003966 65003966 + RNA SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:65003966G>A ENST00000525437.1 + 0 1383 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 GTTTACCGGCGAGCTGTACCC 0.637000 7 12 0 0 0.038147 0 0 COL18A1 80781 broad.mit.edu 37 21 46895442 46895442 + Missense_Mutation SNP A A G TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr21:46895442A>G ENST00000359759.4 + 4 2057 c.2036A>G c.(2035-2037)gAg>gGg p.E679G COL18A1_ENST00000355480.5_Missense_Mutation_p.E444G|COL18A1_ENST00000400337.2_Missense_Mutation_p.E264G P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 679 Nonhelical region 1 (NC1). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTTCTCAGGGAGGAGACGGTG 0.677000 5 2 0 0 0.014758 0 0 ORM1 5004 broad.mit.edu 37 9 117085950 117085950 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr9:117085950G>A ENST00000538816.1 + 1 574 c.537G>A c.(535-537)tgG>tgA p.W179* ORM1_ENST00000259396.8_Missense_Mutation_p.G41D P02763 A1AG1_HUMAN orosomucoid 1 0 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) CAGATCACTGGCAAGTGGTTT 0.498000 40 54 0 0 0.111260 0 0 ANKRD23 200539 broad.mit.edu 37 2 97508103 97508105 + Splice_Site DEL TTC TTC - TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:97508103_97508105delTTC ENST00000318357.4 - 2 212_214 c.174_splice c.e2+1 p.KK57_splice ANKRD23_ENST00000418232.1_Splice_Site_p.KK57_splice|ANKRD23_ENST00000331001.2_Splice_Site_p.KK57_splice NM_144994.7 NP_659431.5 Q86SG2 ANR23_HUMAN ankyrin repeat domain 23 57 K -> N (in Ref. 6; CAC86120). nucleus endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1) 9 CTCTCTCACTTTCTTCTTCTTCT 0.635 15 37 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152496526 152496526 + Frame_Shift_Del DEL A A - rs6713162 by1000genomes TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr2:152496526delA ENST00000427231.2 - 62 8936 c.8734delT c.(8734-8736)ccfs p.S2912fs NEB_ENST00000409198.1_Frame_Shift_Del_p.S2912fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.S2912fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.S2912fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.S2912fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.S2912fs NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2912 S -> P (in dbSNP:rs6713162). muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.S2912P(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GAGCCAATGGACACCCAGCCA 0.393 38 74 --- --- --- --- MRAS 22808 broad.mit.edu 37 3 138121035 138121037 + In_Frame_Del DEL AGA AGA - TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr3:138121035_138121037delAGA ENST00000289104.4 + 6 1198_1200 c.551_553delAGA c.(550-555)cag>c p.QK184del MRAS_ENST00000423968.2_In_Frame_Del_p.QK184del|MRAS_ENST00000474559.1_In_Frame_Del_p.QK184del|MRAS_ENST00000464896.1_In_Frame_Del_p.QK108del NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4 NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3 O14807 RASM_HUMAN muscle RAS oncogene homolog 184 actin cytoskeleton organization|muscle organ development|Ras protein signal transduction intracellular|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 14 GAAAAAAGCCAGAAGAAGAAGAA 0.522 7 542 --- --- --- --- IPO11 51194 broad.mit.edu 37 5 61763066 61763069 + Frame_Shift_Del DEL GAAC GAAC - TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr5:61763066_61763069delGAAC ENST00000325324.6 + 6 794_797 c.625_628delGAAC c.(625-630)gafs p.ER209fs KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Frame_Shift_Del_p.ER249fs NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 209 cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) GAGTTCACTAGAACGAACACTGCT 0.377 20 84 --- --- --- --- BHLHE22 27319 broad.mit.edu 37 8 65494021 65494023 + In_Frame_Del DEL GCA GCA - rs62519837 TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr8:65494021_65494023delGCA ENST00000321870.1 + 1 1208_1210 c.674_676delGCA c.(673-678)ggc>g p.GS225del RP11-21C4.1_ENST00000517909.1_RNA NM_152414.4 NP_689627.1 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix family, member e22 225 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.S234delS(1)|p.S226G(1) NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 5 ggcagcggcggcagcagcagcag 0.709 2 4 --- --- --- --- CUL5 8065 broad.mit.edu 37 11 107965175 107965176 + In_Frame_Ins INS - - AAGTATCTG TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr11:107965175_107965176insAAGTATCTG ENST00000393094.2 + 14 2117_2118 c.1501_1502insAAGTATCTG c.(1501-1503)agt>AAGTATCTGagt p.500_501insKYL NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 500 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TCAGGACATAAAAGTATCTGAA 0.277 16 21 --- --- --- --- PKMYT1 9088 broad.mit.edu 37 16 3023032 3023033 + Frame_Shift_Del DEL CT CT - TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr16:3023032_3023033delCT ENST00000262300.8 - 9 1929_1930 c.1421_1422delAG c.(1420-1422)gfs p.E474fs PAQR4_ENST00000572687.1_3'UTR|PKMYT1_ENST00000574385.1_Frame_Shift_Del_p.E465fs|PAQR4_ENST00000318782.8_3'UTR|PAQR4_ENST00000293978.8_3'UTR|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000574730.1_Frame_Shift_Del_p.E405fs|PKMYT1_ENST00000440027.2_3'UTR|PKMYT1_ENST00000573944.1_Frame_Shift_Del_p.E465fs NM_001258450.1|NM_004203.4|NM_182687.2 NP_001245379.1|NP_004194.3|NP_872629.1 Q99640 PMYT1_HUMAN protein kinase, membrane associated tyrosine/threonine 1 474 Interaction with CDC2-CCNB1.|Interaction with PIN1. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 CCCGAGGAGGCTCTGAGTTGAT 0.609 27 26 --- --- --- --- NOL4 8715 broad.mit.edu 37 18 31538307 31538307 + Frame_Shift_Del DEL G G - TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr18:31538307delG ENST00000261592.5 - 7 1429 c.1132delC c.(1132-1134)tafs p.L378fs NOL4_ENST00000589544.1_Frame_Shift_Del_p.L378fs|NOL4_ENST00000535384.1_Frame_Shift_Del_p.L93fs|NOL4_ENST00000535475.1_Frame_Shift_Del_p.L223fs|NOL4_ENST00000269185.4_Frame_Shift_Del_p.L264fs|NOL4_ENST00000538587.1_Frame_Shift_Del_p.L304fs NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 378 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 CCCCTGTTTAGTGAGAGGTCC 0.488 102 155 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-FS-A1ZE-06A-11D-A197-08 TCGA-FS-A1ZE-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8bc90571-61b8-4672-91f8-ed87c1a4a1ab 28e16dcc-e820-4e52-a0dd-a6289195da53 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 8 210 --- --- --- ---