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 DOLK 22845 broad.mit.edu 37 9 131709575 131709575 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:131709575C>T ENST00000372586.3 - 1 323 c.8G>A c.(7-9)cGa>cAa p.R3Q RP11-101E3.5_ENST00000482796.1_Intron NM_014908.3 NP_055723.1 Q9UPQ8 DOLK_HUMAN dolichol kinase 3 dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 11 TGGGCACTCTCGGGTCATATC 0.662000 10 53 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31201394 31201394 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:31201394C>A ENST00000254108.7 + 11 1205 c.1100C>A c.(1099-1101)tCa>tAa p.S367* FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Nonsense_Mutation_p.S366*|FUS_ENST00000568685.1_Nonsense_Mutation_p.S368* NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 367 RRM. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) ATCAAGGTCTCATTTGCTACT 0.478000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 4 22 0.00024832 0.000258083 1 1 0 BEX4 56271 broad.mit.edu 37 X 102471435 102471435 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:102471435C>T ENST00000372695.5 + 3 589 c.354C>T c.(352-354)ctC>ctT p.L118L BEX4_ENST00000372691.3_Silent_p.L118L NM_001080425.3 NP_001073894.1 Q9NWD9 BEX4_HUMAN brain expressed, X-linked 4 118 cytoplasm|nucleus endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 9 ACTTTTGCCTCATACCTTGAA 0.398000 13 58 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47605103 47605103 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:47605103G>A ENST00000371917.4 + 18 2437 c.2437G>A c.(2437-2439)Gag>Aag p.E813K NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 813 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TCTGCCAGAAGAGTATCTCTC 0.313000 8 153 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1806263 1806263 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:1806263G>A ENST00000518288.1 + 4 410 c.247G>A c.(247-249)Gaa>Aaa p.E83K ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E59K|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E83K|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E59K|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E83K|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E83K O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 83 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TGGAGCCAGTGAAGCCCCTGC 0.617000 4 24 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64435996 64435996 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:64435996G>C ENST00000265459.6 - 8 1739 c.1278C>G c.(1276-1278)ttC>ttG p.F426L NRXN2_ENST00000377551.1_Missense_Mutation_p.F426L|NRXN2_ENST00000377559.3_Missense_Mutation_p.F395L|NRXN2_ENST00000409571.1_Missense_Mutation_p.F419L NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 426 Laminin G-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CAATGTAGAAGAAGTCATCAG 0.612000 10 119 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611576 179611576 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:179611576G>C ENST00000360870.5 - 46 15773 c.15551C>G c.(15550-15552)tCt>tGt p.S5184C TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8703 Ig-like 32. 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) TTCAATAAAAGATGGAGGCAT 0.413000 4 79 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44500376 44500376 + Missense_Mutation SNP C C G rs138952990 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:44500376C>G ENST00000270014.2 + 5 495 c.367C>G c.(367-369)Cag>Gag p.Q123E ZNF155_ENST00000590615.1_Missense_Mutation_p.Q123E|ZNF155_ENST00000407951.2_Missense_Mutation_p.Q134E NM_001260487.1|NM_198089.2 NP_001247416|NP_932355 Q12901 ZN155_HUMAN zinc finger protein 155 123 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) AAATAACTCTCAGTTCTTTGA 0.463000 7 100 0 0 1 0 0 SPINT4 391253 broad.mit.edu 37 20 44352659 44352659 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:44352659G>C ENST00000279058.3 + 2 273 c.256G>C c.(256-258)Gaa>Caa p.E86Q NM_178455.1 NP_848550.1 Q6UDR6 SPIT4_HUMAN serine peptidase inhibitor, Kunitz type 4 86 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity lung(6)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.028) GCTTAAAATAGAACGTGAAGT 0.393000 7 122 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324512 152324512 + Missense_Mutation SNP T T C rs150834303 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:152324512T>C ENST00000388718.5 - 3 5822 c.5750A>G c.(5749-5751)aAg>aGg p.K1917R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1917 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGTGTCTCTTGTGAACTGT 0.502000 19 269 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11145497 11145497 + Splice_Site SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:11145497G>T ENST00000409790.1 + 18 2224 c.1994G>T c.(1993-1995)cGg>cTg p.R665L CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Splice_Site_p.R647L NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 665 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 AAGACCCGGCGGGTGAGTGAG 0.602000 13 54 2.23348e-06 2.39077e-06 1 1 0 LAMB1 3912 broad.mit.edu 37 7 107626630 107626630 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:107626630G>T ENST00000393561.1 - 4 858 c.674C>A c.(673-675)aCt>aAt p.T225N LAMB1_ENST00000393560.1_Missense_Mutation_p.T201N|LAMB1_ENST00000222399.6_Missense_Mutation_p.T201N P07942 LAMB1_HUMAN laminin, beta 1 201 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTCCTTCAGTTGAGGGTTC 0.378000 13 74 2.23348e-06 2.39077e-06 1 1 0 ZNF727 442319 broad.mit.edu 37 7 63538396 63538396 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:63538396G>A ENST00000550760.3 + 4 1148 c.969G>A c.(967-969)tgG>tgA p.W323* NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 323 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 CTTTTATGTGGATCTCGGCCC 0.388000 3 31 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104922586 104922586 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:104922586G>T ENST00000262231.10 + 3 1334 c.1086G>T c.(1084-1086)caG>caT p.Q362H RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000436393.2_Intron NM_001282881.1 NP_001269810.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 585 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CTAGTGAGCAGGCAGTTTTGT 0.388000 HNSCC(12;0.0054) 9 97 1.58986e-06 1.70784e-06 1 1 0 VAV3 10451 broad.mit.edu 37 1 108417594 108417594 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:108417594C>T ENST00000370056.4 - 2 524 c.250G>A c.(250-252)Gag>Aag p.E84K VAV3_ENST00000527011.1_Missense_Mutation_p.E84K|VAV3_ENST00000371846.4_Missense_Mutation_p.E19K NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 84 CH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CCAAACGTCTCACAACAGGCC 0.358000 7 54 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347324 71347324 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:71347324C>T ENST00000413702.1 + 4 1151 c.863C>T c.(862-864)tCt>tTt p.S288F MUC7_ENST00000456088.1_Missense_Mutation_p.S288F|MUC7_ENST00000304887.5_Missense_Mutation_p.S288F NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 288 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CCCACACCTTCTGCAACTACA 0.577000 30 232 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30627933 30627933 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:30627933G>A ENST00000376442.3 - 10 1826 c.1631C>T c.(1630-1632)cCt>cTt p.P544L DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.P63L NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 544 Helicase ATP-binding. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 CTTGAGCTCAGGTCGGAAGCG 0.537000 5 59 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62659889 62659889 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62659889A>T ENST00000535781.1 + 17 2389 c.2278A>T c.(2278-2280)Atg>Ttg p.M760L ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron O94906 PRP6_HUMAN pre-mRNA processing factor 6 800 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) AAATACACTCATGGCCAAGGC 0.652000 11 122 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524975 112524975 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:112524975G>A ENST00000369697.1 - 1 443 c.374C>T c.(373-375)cCg>cTg p.P125L KCND3_ENST00000315987.2_Missense_Mutation_p.P125L|KCND3_ENST00000302127.4_Missense_Mutation_p.P125L Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 125 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GATGATCTCCGGGAGGATGCC 0.617000 9 103 0 0 1 0 0 HPS4 89781 broad.mit.edu 37 22 26860092 26860092 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:26860092C>T ENST00000398145.2 - 11 2120 c.1504G>A c.(1504-1506)Gca>Aca p.A502T HPS4_ENST00000398141.1_Missense_Mutation_p.A515T|HPS4_ENST00000402105.3_Missense_Mutation_p.A497T|HPS4_ENST00000336873.5_Missense_Mutation_p.A502T|HPS4_ENST00000493455.2_5'UTR NM_022081.5 NP_071364.4 Q9NQG7 HPS4_HUMAN Hermansky-Pudlak syndrome 4 502 lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting lysosome|melanosome|membrane fraction|platelet dense granule protein homodimerization activity breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 32 CCAGGGGCTGCGTGGCTTTCA 0.567000 Hermansky-Pudlak syndrome 27 148 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76523333 76523333 + Missense_Mutation SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:76523333T>A ENST00000429927.2 - 8 1651 c.948A>T c.(946-948)aaA>aaT p.K316N CDKL2_ENST00000307465.4_Missense_Mutation_p.K316N NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 316 sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TGTTTTGGGATTTTTTAGATA 0.274000 4 38 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533796 55533796 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:55533796C>T ENST00000220676.1 + 2 418 c.270C>T c.(268-270)caC>caT p.H90H NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 90 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGGGCAGGCACAGCATCACGC 0.607000 8 132 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12673397 12673397 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:12673397G>A ENST00000262127.2 - 12 2172 c.1947C>T c.(1945-1947)atC>atT p.I649I PSMG2_ENST00000585331.2_Intron|PSMG2_ENST00000589405.1_Intron|CEP76_ENST00000423709.2_Silent_p.I574I NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 649 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAGCAAACATGATCCAAACAG 0.378000 22 133 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36223466 36223466 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:36223466G>C ENST00000222270.7 + 28 6016 c.6016G>C c.(6016-6018)Gag>Cag p.E2006Q KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E2006Q NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B CTTCCAGGAAGAGATTGTAGC 0.667000 8 41 0 0 1 0 0 OPN3 23596 broad.mit.edu 37 1 241803278 241803278 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:241803278G>A ENST00000366554.2 - 1 385 c.279C>T c.(277-279)ttC>ttT p.F93F OPN3_ENST00000469376.1_5'UTR|OPN3_ENST00000331838.5_Silent_p.F93F NM_014322.2 NP_055137.2 Q9H1Y3 OPN3_HUMAN opsin 3 93 phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception integral to plasma membrane G-protein coupled photoreceptor activity endometrium(1)|large_intestine(5)|lung(5) 11 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AGGTGACCCCGAAGAGGGACA 0.622000 4 18 0 0 1 0 0 DRG1 4733 broad.mit.edu 37 22 31822752 31822752 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:31822752C>G ENST00000331457.4 + 7 1026 c.865C>G c.(865-867)Ctg>Gtg p.L289V NM_004147.3 NP_004138.1 Q9Y295 DRG1_HUMAN developmentally regulated GTP binding protein 1 289 multicellular organismal development|transcription, DNA-dependent cytoplasm|intermediate filament cytoskeleton|nucleus GTP binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 11 CTGGGACTATCTGAAACTAGT 0.398000 13 104 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36212143 36212143 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:36212143C>G ENST00000303965.4 - 6 1845 c.1356G>C c.(1354-1356)ccG>ccC p.P452P NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 452 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTGAGCTTAACGGATAACTGT 0.383000 7 67 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42474362 42474362 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:42474362G>C ENST00000545399.1 - 18 2709 c.2556C>G c.(2554-2556)ctC>ctG p.L852L ATP1A3_ENST00000543770.1_Silent_p.L850L|ATP1A3_ENST00000302102.5_Silent_p.L839L|ATP1A3_ENST00000602133.1_Silent_p.L809L NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 839 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CCATGCTGATGAGTCTCTCAT 0.612000 7 66 0 0 1 0 0 CORO2B 10391 broad.mit.edu 37 15 69003924 69003924 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:69003924T>C ENST00000543950.1 + 5 866 c.512T>C c.(511-513)aTt>aCt p.I171T CORO2B_ENST00000261861.5_Missense_Mutation_p.I171T|CORO2B_ENST00000566799.1_Missense_Mutation_p.I176T|CORO2B_ENST00000540068.1_Missense_Mutation_p.I171T NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 176 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GTGAAGATGATTGACTGCCAC 0.592000 6 46 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61568636 61568636 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:61568636G>T ENST00000577647.1 + 8 1129 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L ACE_ENST00000490216.2_Missense_Mutation_p.V362L|ACE_ENST00000290866.4_Missense_Mutation_p.V936L|ACE_ENST00000290863.6_Missense_Mutation_p.V362L|ACE_ENST00000421982.2_Missense_Mutation_p.V182L|ACE_ENST00000413513.3_Missense_Mutation_p.V362L|ACE_ENST00000428043.1_Missense_Mutation_p.V936L P12821 ACE_HUMAN angiotensin I converting enzyme 936 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding p.V362M(1)|p.V936M(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GCTGCTGCCCGTGCCTCCTGA 0.617000 6 44 3.59834e-05 3.7851e-05 1 1 0 GNE 10020 broad.mit.edu 37 9 36276902 36276902 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:36276902G>A ENST00000396594.3 - 1 151 c.40C>T c.(40-42)Caa>Taa p.Q14* GNE_ENST00000543356.2_Silent_p.F46F NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) TGAGGTCCTTGAAAGCATGAC 0.403000 17 69 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72891929 72891929 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:72891929G>C ENST00000339594.4 - 7 2200 c.1862C>G c.(1861-1863)tCt>tGt p.S621C BAZ1B_ENST00000404251.1_Missense_Mutation_p.S621C NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 621 DDT. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) AAGTAGCCCAGAATAACAGCT 0.478000 5 59 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54348569 54348569 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:54348569G>A ENST00000254442.3 + 4 503 c.292G>A c.(292-294)Gat>Aat p.D98N WDR7_ENST00000357574.3_Missense_Mutation_p.D98N|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 98 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GGATGTGAGTGATGGCAGATG 0.338000 16 146 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88570051 88570051 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:88570051G>C ENST00000266712.6 + 10 1607 c.1387G>C c.(1387-1389)Gag>Cag p.E463Q NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 463 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AAAGAACTTTGAGAGAGCTTT 0.289000 4 32 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600473 27600473 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:27600473G>A ENST00000323703.6 - 4 1763 c.1565C>T c.(1564-1566)tCt>tTt p.S522F ZNF513_ENST00000407879.1_Missense_Mutation_p.S460F NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 522 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGGCCCCGAGAGCTCAAAAC 0.632000 5 49 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26286783 26286783 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:26286783G>A ENST00000335473.7 + 26 4625 c.4375G>A c.(4375-4377)Gtg>Atg p.V1459M MYO18B_ENST00000536101.1_Missense_Mutation_p.V1459M|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000600211.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1460M NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1459 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity 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 GGCCTGCCAGGTGCTGGAGAG 0.612000 7 37 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20194392 20194392 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:20194392C>G ENST00000379565.3 - 13 1285 c.1078G>C c.(1078-1080)Gag>Cag p.E360Q RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E332Q|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E331Q|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E332Q NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 360 AGC-kinase C-terminal. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 GCAGTAAACTCAGGATCAAAA 0.348000 4 21 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42392170 42392170 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:42392170G>C ENST00000599846.1 + 2 142 c.17G>C c.(16-18)cGa>cCa p.R6P ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R21P|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R21P|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R6P|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R6P Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 6 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GACTTCGCCCGAGGGGCGGTG 0.657000 4 24 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885230 88885230 + Nonsense_Mutation SNP C C A rs138662456 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:88885230C>A ENST00000319675.3 - 1 1066 c.970G>T c.(970-972)Gaa>Taa p.E324* NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 324 p.E324K(2) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 CCTTCTTCTTCGTTCACATGC 0.552000 8 57 0.00448238 0.00460353 1 1 0 MYH2 4620 broad.mit.edu 37 17 10440759 10440759 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:10440759G>C ENST00000245503.5 - 16 2072 c.1688C>G c.(1687-1689)tCt>tGt p.S563C RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.S563C|MYH2_ENST00000532183.2_Missense_Mutation_p.S563C|CTC-297N7.11_ENST00000587182.2_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 563 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GAAGTTGGCAGACTTGCCCAG 0.532000 9 119 0 0 1 0 0 METTL5 29081 broad.mit.edu 37 2 170681089 170681089 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:170681089T>C ENST00000410097.1 - 2 154 c.19A>G c.(19-21)Aag>Gag p.K7E METTL5_ENST00000409965.1_Missense_Mutation_p.K7E|METTL5_ENST00000392640.2_Missense_Mutation_p.K7E|METTL5_ENST00000409340.1_Missense_Mutation_p.K7E|METTL5_ENST00000260953.5_Missense_Mutation_p.K7E|METTL5_ENST00000308099.3_Missense_Mutation_p.K7E|METTL5_ENST00000409837.1_Missense_Mutation_p.K7E Q9NRN9 METL5_HUMAN methyltransferase like 5 7 methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1) 10 TCTAGTTCCTTAAGCCTTACT 0.468000 OREG0015052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 98 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14304625 14304625 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:14304625C>T ENST00000344204.4 + 8 1448 c.1424C>T c.(1423-1425)tCa>tTa p.S475L TRIO_ENST00000537187.1_Missense_Mutation_p.S475L|TRIO_ENST00000509967.2_Missense_Mutation_p.S426L NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 475 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) GACCTTCCCTCAGAGCTGCAG 0.393000 10 186 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 174951896 174951896 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:174951896C>T ENST00000454872.1 + 3 849 c.721C>T c.(721-723)Cat>Tat p.H241Y NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 241 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TCAATGCTTTCATCCTAATGG 0.488000 22 102 0 0 1 0 0 ACBD4 79777 broad.mit.edu 37 17 43214493 43214493 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:43214493G>A ENST00000431281.1 + 7 871 c.402G>A c.(400-402)ctG>ctA p.L134L ACBD4_ENST00000321854.8_Silent_p.L134L|ACBD4_ENST00000398322.3_Silent_p.L134L|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000586346.1_Silent_p.L134L|ACBD4_ENST00000591859.1_Silent_p.L134L|ACBD4_ENST00000592162.1_Silent_p.L134L|ACBD4_ENST00000376955.4_Silent_p.L134L NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 134 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 AGACCTTCCTGAGAAGGGTCA 0.607000 3 52 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182988156 182988156 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182988156G>C ENST00000326505.3 + 2 1100 c.570G>C c.(568-570)atG>atC p.M190I B3GNT5_ENST00000460419.1_Missense_Mutation_p.M190I|B3GNT5_ENST00000465010.1_Missense_Mutation_p.M190I|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 190 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) AATTTCTTATGACTGCTGATG 0.353000 12 152 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101655103 101655103 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:101655103C>T ENST00000409318.1 - 7 1225 c.1095G>A c.(1093-1095)gaG>gaA p.E365E TBC1D8_ENST00000376840.4_Silent_p.E350E NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 350 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CCTCCATCTTCTCGATGCTCA 0.557000 11 100 0 0 1 0 0 NEDD1 121441 broad.mit.edu 37 12 97345758 97345758 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:97345758C>G ENST00000266742.4 + 16 2249 c.1910C>G c.(1909-1911)tCa>tGa p.S637* NEDD1_ENST00000557644.1_Nonsense_Mutation_p.S644*|NEDD1_ENST00000429527.2_Nonsense_Mutation_p.S637*|NEDD1_ENST00000411739.2_Nonsense_Mutation_p.S548*|NEDD1_ENST00000457368.2_Nonsense_Mutation_p.S548* NM_152905.3 NP_690869.1 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally down-regulated 1 637 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8) 22 GAAAGATACTCAGTGAATGAA 0.318000 6 60 0 0 1 0 0 GNAO1 2775 broad.mit.edu 37 16 56388944 56388944 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:56388944C>G ENST00000262493.6 + 8 1890 c.1044C>G c.(1042-1044)ctC>ctG p.L348L NM_020988.2 NP_066268.1 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 348 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) CCAACAACCTCCGGGGCTGCG 0.502000 6 71 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66280023 66280023 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:66280023C>T ENST00000273854.3 - 7 2266 c.1666G>A c.(1666-1668)Gag>Aag p.E556K EPHA5_ENST00000511294.1_Missense_Mutation_p.E556K|EPHA5_ENST00000354839.4_Missense_Mutation_p.E556K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E392K NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 556 Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTTTCAAACTCAAATCTTCGA 0.438000 TSP Lung(17;0.13) 9 74 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82579161 82579161 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:82579161C>T ENST00000333891.9 - 6 11080 c.10743G>A c.(10741-10743)ctG>ctA p.L3581L PCLO_ENST00000437081.1_Silent_p.L301L|PCLO_ENST00000423517.2_Silent_p.L3581L NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 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 ATGTGGCACTCAGATATTGAG 0.438000 7 52 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 14028311 14028311 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:14028311C>T ENST00000405358.4 - 1 187 c.81G>A c.(79-81)aaG>aaA p.K27K ETV1_ENST00000405218.2_Intron|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000430479.1_Intron|ETV1_ENST00000343495.5_Intron|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000403685.1_Intron P50549 ETV1_HUMAN ets variant 1 0 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CAACTTCATTCTTTTCAATGT 0.368000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 10 123 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106139900 106139900 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:106139900G>A ENST00000369704.3 + 9 1421 c.1287G>A c.(1285-1287)caG>caA p.Q429Q CCDC147_ENST00000369703.1_Silent_p.Q51Q|CCDC147_ENST00000312902.5_Silent_p.Q51Q NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 429 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ATGAGGCTCAGAAGCAGAGAA 0.488000 17 68 0 0 1 0 0 PPM1M 132160 broad.mit.edu 37 3 52282434 52282434 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:52282434G>C ENST00000296487.4 + 6 800 c.396G>C c.(394-396)caG>caC p.Q132H PPM1M_ENST00000409502.3_Missense_Mutation_p.Q81H|PPM1M_ENST00000323588.4_Missense_Mutation_p.Q132H|PPM1M_ENST00000457351.2_Missense_Mutation_p.Q293H Q96MI6 PPM1M_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1M 132 PP2C-like. protein dephosphorylation nucleus CTD phosphatase activity|manganese ion binding prostate(1)|urinary_tract(1) 2 BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194) ACTTGGGACAGAAGGTTTTGT 0.612000 3 27 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22156369 22156369 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:22156369T>C ENST00000397126.4 - 4 1615 c.1467A>G c.(1465-1467)gcA>gcG p.A489A ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CAGCATGAGTTGCCTTATCAC 0.378000 14 63 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31598386 31598386 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:31598386G>A ENST00000399332.1 - 25 4679 c.4191C>T c.(4189-4191)atC>atT p.I1397I HECTD1_ENST00000553700.1_Silent_p.I1397I NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1397 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AACCCAAGCTGATGTCGCTGC 0.458000 12 183 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51664777 51664777 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:51664777G>A ENST00000409535.2 + 6 780 c.655G>A c.(655-657)Gaa>Aaa p.E219K RAD54L2_ENST00000296477.3_5'UTR NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GGACAGCAGTGAATCTGTCAG 0.488000 4 36 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29747179 29747179 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:29747179G>A ENST00000375398.2 - 40 7091 c.6642C>T c.(6640-6642)ttC>ttT p.F2214F PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000355867.4_Silent_p.F2214F|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Silent_p.F1788F|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Silent_p.F1128F O95425 SVIL_HUMAN supervillin 2214 HP. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TCCCCACTCAGAACAGGCCTT 0.502000 3 62 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119936422 119936422 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:119936422G>T ENST00000361035.4 + 9 1337 c.1054G>T c.(1054-1056)Gct>Tct p.A352S HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000325945.3_Missense_Mutation_p.A339S Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 339 fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) CCGGTCGGTCGCTGAGATCAA 0.478000 11 168 0.000151284 0.000158043 1 1 0 GRM3 2913 broad.mit.edu 37 7 86469220 86469220 + Splice_Site SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:86469220G>A ENST00000361669.2 + 4 3489 c.2390G>A c.(2389-2391)aGa>aAa p.R797K GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Splice_Site_p.R669K|GRM3_ENST00000546348.1_Splice_Site_p.R389K NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 797 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGTGACTACAGAGTAAGTCTT 0.353000 5 74 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97475114 97475114 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:97475114C>T ENST00000377075.2 + 7 2286 c.2188C>T c.(2188-2190)Cag>Tag p.Q730* CNNM4_ENST00000540067.1_Missense_Mutation_p.S246L NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 730 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane p.Q730*(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 GAACAGCCCTCAGTTTCCCAT 0.577000 5 40 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52835027 52835027 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:52835027C>T ENST00000449956.2 + 11 1254 c.1248C>T c.(1246-1248)atC>atT p.I416I ITIH3_ENST00000465243.2_3'UTR|ITIH3_ENST00000416872.2_Silent_p.I416I NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 416 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GGAATGCCATCGGGGGCAAGT 0.542000 25 172 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 132973814 132973814 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:132973814C>G ENST00000253861.4 + 3 444 c.415C>G c.(415-417)Caa>Gaa p.Q139E EXOC4_ENST00000393161.2_Missense_Mutation_p.Q139E|EXOC4_ENST00000539845.1_Missense_Mutation_p.Q38E NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 139 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GCAAGTGCCTCAAAAGCTGGA 0.443000 8 40 0 0 1 0 0 TFCP2 7024 broad.mit.edu 37 12 51512521 51512521 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:51512521C>T ENST00000307660.4 - 2 877 c.157G>A c.(157-159)Gag>Aag p.E53K TFCP2_ENST00000257915.5_Missense_Mutation_p.E53K|TFCP2_ENST00000549867.1_Missense_Mutation_p.E53K|TFCP2_ENST00000548115.1_Missense_Mutation_p.E53K NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 53 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 AAACTCGACTCTTCTTGCTTA 0.398000 6 115 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24418668 24418668 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:24418668C>T ENST00000330966.7 - 11 1393 c.1231G>A c.(1231-1233)Gag>Aag p.E411K MYOM3_ENST00000374434.3_Missense_Mutation_p.E410K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.E410K Q5VTT5 MYOM3_HUMAN myomesin 3 410 Fibronectin type-III 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ACTCACCGCTCAATGGTGTAG 0.602000 10 75 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72022749 72022749 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:72022749C>G ENST00000378743.3 - 20 4253 c.3895G>C c.(3895-3897)Gat>Cat p.D1299H NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 1299 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 AAGCTATTATCTGAAATAGGT 0.328000 3 42 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719466 140719466 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140719466G>A ENST00000394576.2 + 1 928 c.928G>A c.(928-930)Gag>Aag p.E310K PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTAGATTATGAGGATGCTAC 0.413000 13 176 0 0 1 0 0 PLEKHM1P 440456 broad.mit.edu 37 17 62782704 62782704 + RNA SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:62782704C>T ENST00000582986.1 - 0 2345 NR_024386.1 GTGTCAAACTCAGAGGGGAAG 0.602000 6 42 0 0 1 0 0 GNB1 2782 broad.mit.edu 37 1 1749278 1749278 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:1749278G>T ENST00000378609.4 - 4 425 c.94C>A c.(94-96)Cag>Aag p.Q32K NM_001282539.1|NM_002074.3 NP_001269468.1|NP_002065.1 P62873 GBB1_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1 32 cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission heterotrimeric G-protein complex GTPase activity|GTPase binding|signal transducer activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 12 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.62e-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)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236) GCTCTTACCTGAGAGAGAGTT 0.547000 3 58 0.00909568 0.00929441 1 1 0 ZNRF4 148066 broad.mit.edu 37 19 5455804 5455804 + Missense_Mutation SNP G G A rs141487677 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:5455804G>A ENST00000222033.4 + 1 379 c.302G>A c.(301-303)cGg>cAg p.R101Q NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 101 integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GCAGTGGTACGGGCCGTGCTG 0.692000 18 76 0 0 1 0 0 IFRD2 7866 broad.mit.edu 37 3 50327428 50327428 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:50327428G>A ENST00000436390.1 - 8 975 c.478C>T c.(478-480)Cac>Tac p.H160Y IFRD2_ENST00000417626.2_Missense_Mutation_p.H160Y|IFRD2_ENST00000429673.2_Missense_Mutation_p.H224Y|IFRD2_ENST00000336089.4_Missense_Mutation_p.H326Y Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 224 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGCAGGCTGTGAAACAGCTCC 0.637000 5 14 0 0 1 0 0 ICMT 23463 broad.mit.edu 37 1 6293642 6293642 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:6293642G>A ENST00000343813.5 - 3 374 c.346C>T c.(346-348)Ccc>Tcc p.P116S NM_012405.3 NP_036537.1 O60725 ICMT_HUMAN isoprenylcysteine carboxyl methyltransferase 116 protein targeting to membrane endoplasmic reticulum membrane|integral to membrane|membrane fraction protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity NS(1)|endometrium(2) 3 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) AGACTTTTGGGATTATTGACT 0.398000 6 74 0 0 1 0 0 CEP350 9857 broad.mit.edu 37 1 179989421 179989421 + Silent SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:179989421A>C ENST00000367607.3 + 12 2930 c.2512A>C c.(2512-2514)Aga>Cga p.R838R NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 838 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 TTTGTCCAGCAGAATTGAAAG 0.443000 20 126 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11522879 11522879 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:11522879C>G ENST00000262442.4 + 6 1199 c.1131C>G c.(1129-1131)ctC>ctG p.L377L DNAH9_ENST00000454412.2_Silent_p.L377L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTAATTATCTCAGCCCAGAAG 0.448000 6 93 0 0 1 0 0 BTG4 54766 broad.mit.edu 37 11 111367977 111367977 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:111367977G>A ENST00000525791.1 - 4 653 c.469C>T c.(469-471)Cgt>Tgt p.R157C BTG4_ENST00000356018.2_Missense_Mutation_p.R157C Q9NY30 BTG4_HUMAN B-cell translocation gene 4 157 cell cycle arrest|negative regulation of cell proliferation|neuron differentiation large_intestine(2)|upper_aerodigestive_tract(1) 3 all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509) GGAATGACACGAGGTTCCTTG 0.388000 5 125 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34917785 34917785 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:34917785C>T ENST00000359791.1 + 9 1251 c.1123C>T c.(1123-1125)Ctt>Ttt p.L375F NPSR1_ENST00000531252.1_Missense_Mutation_p.L364F NM_207173.1 NP_997056.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 0 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) TTCCTGGGCTCTTCCAAGGTG 0.592000 4 17 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131520580 131520580 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:131520580G>C ENST00000423981.1 + 2 1045 c.935G>C c.(934-936)aGt>aCt p.S312T AMER3_ENST00000321420.4_Missense_Mutation_p.S312T NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TTCTGGGACAGTGTGAATCGC 0.647000 6 35 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110864425 110864425 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:110864425G>C ENST00000265171.5 + 3 788 c.343G>C c.(343-345)Gag>Cag p.E115Q EGF_ENST00000503392.1_Missense_Mutation_p.E115Q|EGF_ENST00000502723.1_3'UTR|EGF_ENST00000509793.1_Missense_Mutation_p.E115Q NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 115 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) ATGTAATATAGAGAAAAATGT 0.254000 8 69 0 0 1 0 0 C9orf72 203228 broad.mit.edu 37 9 27566843 27566843 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:27566843C>T ENST00000380003.3 - 2 339 c.276G>A c.(274-276)gtG>gtA p.V92V C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Silent_p.V92V NM_001256054.1|NM_018325.3 NP_001242983.1|NP_060795.1 Q96LT7 CI072_HUMAN chromosome 9 open reading frame 72 92 breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1) 23 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) AAACAATAATCACTCCCTTTT 0.378000 3 39 0 0 1 0 0 PARPBP 55010 broad.mit.edu 37 12 102547708 102547708 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:102547708C>G ENST00000327680.2 + 5 669 c.206C>G c.(205-207)tCt>tGt p.S69C PARPBP_ENST00000392911.2_Missense_Mutation_p.S69C|PARPBP_ENST00000541394.1_Missense_Mutation_p.S227C|PARPBP_ENST00000378128.3_Missense_Mutation_p.S150C|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.S150C NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 150 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 ACTGATCTTTCTATACCAACA 0.338000 11 76 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59179635 59179635 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:59179635C>T ENST00000380516.2 - 18 2567 c.2480G>A c.(2479-2481)aGa>aAa p.R827K SLTM_ENST00000536328.1_Missense_Mutation_p.R396K NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 827 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCATTTCTTCTGGAGTCACT 0.463000 17 71 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947223 57947223 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:57947223C>T ENST00000335397.3 + 3 623 c.307C>T c.(307-309)Ctg>Ttg p.L103L NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TCAGTTCTTTCTGTTCACCTT 0.542000 8 64 0 0 1 0 0 MLLT1 4298 broad.mit.edu 37 19 6270699 6270699 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:6270699G>A ENST00000252674.7 - 2 247 c.84C>T c.(82-84)ttC>ttT p.F28F NM_005934.3 NP_005925.2 Q03111 ENL_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 28 YEATS. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2) 17 AGTCGTGAGTGAACCCCTCCG 0.612000 T MLL AL OREG0025198 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 54 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71166203 71166203 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:71166203G>C ENST00000319023.2 + 2 321 c.133G>C c.(133-135)Gag>Cag p.E45Q NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 45 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTTGGACCAGAGCTGGAAAT 0.473000 8 72 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15967466 15967466 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:15967466C>T ENST00000268712.3 - 35 5394 c.5137G>A c.(5137-5139)Gag>Aag p.E1713K NCOR1_ENST00000395851.1_Missense_Mutation_p.E1729K|NCOR1_ENST00000395857.3_Missense_Mutation_p.E297K NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1713 Interaction with C1D (By similarity).|Interaction with ETO. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) cgttccctctcAGCACTTGCA 0.517000 3 67 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82835572 82835572 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:82835572G>A ENST00000265077.3 + 8 7315 c.6750G>A c.(6748-6750)gaG>gaA p.E2250E VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.E1263E|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2250 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CAGATACTGAGCTCTTATTCT 0.378000 15 44 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48124546 48124546 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:48124546C>G ENST00000244043.4 - 10 1443 c.1414G>C c.(1414-1416)Gag>Cag p.E472Q PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 472 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) TCAGGGATCTCCACATCTGCG 0.572000 10 72 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162813607 162813607 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:162813607C>T ENST00000375514.5 + 20 2880 c.2593C>T c.(2593-2595)Cat>Tat p.H865Y SLC4A10_ENST00000272716.5_Missense_Mutation_p.H854Y|SLC4A10_ENST00000446997.1_Missense_Mutation_p.H884Y|SLC4A10_ENST00000421911.1_Missense_Mutation_p.H884Y|SLC4A10_ENST00000415876.2_Missense_Mutation_p.H854Y NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 884 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTCCATCACTCATGTCAATAG 0.493000 3 20 0 0 1 0 0 BRIX1 55299 broad.mit.edu 37 5 34924954 34924954 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:34924954C>T ENST00000336767.5 + 9 1029 c.666C>T c.(664-666)atC>atT p.I222I BRIX1_ENST00000506023.1_3'UTR NM_018321.3 NP_060791.3 Q8TDN6 BRX1_HUMAN BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) 222 Brix. ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(1)|large_intestine(2)|lung(1) 4 TATTAAAGATCATAGAAGAAG 0.323000 3 48 0 0 1 0 0 STRBP 55342 broad.mit.edu 37 9 125909232 125909232 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:125909232G>T ENST00000447404.2 - 12 1544 c.1240C>A c.(1240-1242)Cat>Aat p.H414N STRBP_ENST00000348403.5_Missense_Mutation_p.H414N|STRBP_ENST00000360998.3_Missense_Mutation_p.H400N Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 414 DRBM 1. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 ACTGGGGCATGAACGGGGCCA 0.463000 13 114 3.27435e-08 3.54867e-08 1 1 0 TG 7038 broad.mit.edu 37 8 133880419 133880419 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:133880419C>T ENST00000220616.4 + 2 167 c.127C>T c.(127-129)Ctg>Ttg p.L43L TG_ENST00000377869.1_Silent_p.L43L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 43 Thyroglobulin type-1 1. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACGGCCTTTCTGAAGCAAGC 0.517000 9 83 0 0 1 0 0 NR1D1 9572 broad.mit.edu 37 17 38250311 38250311 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:38250311C>T ENST00000246672.3 - 7 2129 c.1499G>A c.(1498-1500)cGc>cAc p.R500H NM_021724.3 NP_068370.1 P20393 NR1D1_HUMAN nuclear receptor subfamily 1, group D, member 1 500 cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 11 Colorectal(19;0.000442) GTAGGTGGTGCGGCTTAGGAA 0.572000 17 170 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879141 3879141 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:3879141G>A ENST00000315677.3 - 4 1523 c.928C>T c.(928-930)Cag>Tag p.Q310* DLGAP1_ENST00000581527.1_Nonsense_Mutation_p.Q310*|DLGAP1_ENST00000515196.2_Nonsense_Mutation_p.Q310*|DLGAP1_ENST00000584874.1_Nonsense_Mutation_p.Q310*|DLGAP1-AS3_ENST00000577649.1_RNA NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 310 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGTTCTTGCTGACACGACTCG 0.577000 10 97 0 0 1 0 0 HTR2B 3357 broad.mit.edu 37 2 231988456 231988456 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:231988456G>C ENST00000258400.3 - 2 535 c.23C>G c.(22-24)tCt>tGt p.S8C PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 8 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) TTGAAGTTCAGACACTCTGTA 0.423000 15 111 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239387 5239387 + Splice_Site SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:5239387C>T ENST00000274181.7 + 15 2416 c.2278C>T c.(2278-2280)Cag>Tag p.Q760* NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 760 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CCACACCAACCGTGAGTACTT 0.512000 16 120 0 0 1 0 0 TMEM106C 79022 broad.mit.edu 37 12 48361983 48361983 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:48361983G>T ENST00000429772.2 + 8 837 c.724G>T c.(724-726)Gat>Tat p.D242Y TMEM106C_ENST00000256686.6_Missense_Mutation_p.D223Y|TMEM106C_ENST00000449758.2_Missense_Mutation_p.D223Y|TMEM106C_ENST00000552561.1_Missense_Mutation_p.D242Y|TMEM106C_ENST00000549288.1_3'UTR|TMEM106C_ENST00000552546.1_Missense_Mutation_p.D171Y|TMEM106C_ENST00000550552.1_Missense_Mutation_p.D223Y NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 242 endoplasmic reticulum membrane|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) TCACTATGTGGATTGTGGAGG 0.428000 10 70 4.36969e-10 4.77837e-10 1 1 0 TSSK2 23617 broad.mit.edu 37 22 19118990 19118990 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:19118990C>A ENST00000399635.2 + 1 670 c.78C>A c.(76-78)gtC>gtA p.V26V DGCR14_ENST00000252137.6_3'UTR NM_053006.4 NP_443732.3 Q96PF2 TSSK2_HUMAN testis-specific serine kinase 2 26 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1) 11 Colorectal(54;0.0993) ACGCAAAAGTCAAATCTGCCT 0.522000 6 45 0.0215528 0.0218766 1 1 0 KIF3A 11127 broad.mit.edu 37 5 132046656 132046656 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:132046656C>T ENST00000378746.4 - 9 1441 c.1223G>A c.(1222-1224)aGa>aAa p.R408K AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.R408K|KIF3A_ENST00000403231.1_Missense_Mutation_p.R408K NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 408 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTACCCCTTCTTTTTTTCCT 0.388000 4 112 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66208977 66208977 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:66208977G>C ENST00000360689.5 + 11 3304 c.1577G>C c.(1576-1578)gGa>gCa p.G526A FUT8_ENST00000358307.2_Missense_Mutation_p.G397A|FUT8_ENST00000394585.1_Missense_Mutation_p.G526A|FUT8_ENST00000394586.2_Missense_Mutation_p.G526A|FUT8_ENST00000417683.1_Missense_Mutation_p.G120A|FUT8_ENST00000557164.1_Missense_Mutation_p.G363A NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 526 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) ATGGAACCTGGAGATATCATT 0.453000 13 128 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127704904 127704904 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:127704904G>A ENST00000508053.1 - 22 3193 c.2219C>T c.(2218-2220)cCc>cTc p.P740L FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.P740L|FBN2_ENST00000508989.1_Missense_Mutation_p.P707L P35556 FBN2_HUMAN fibrillin 2 740 TB 3. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGGCTGGCAGGGTTCTCCAAA 0.463000 20 67 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532195 84532195 + RNA SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:84532195C>T ENST00000527857.1 + 0 2217 NR_026851.1 CTATCTGTGTCAGACAGCATT 0.498000 5 21 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193176856 193176856 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:193176856G>A ENST00000295548.3 - 14 1687 c.1688C>T c.(1687-1689)tCt>tTt p.S563F ATP13A4_ENST00000342695.4_Intron|ATP13A4_ENST00000392443.3_Intron Q4VNC1 AT134_HUMAN ATPase type 13A4 563 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) ATTCTCTGAAGAGCAGAGGCT 0.468000 4 96 0 0 1 0 0 TIGD6 81789 broad.mit.edu 37 5 149375650 149375650 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:149375650C>A ENST00000296736.3 - 2 1036 c.262G>T c.(262-264)Gaa>Taa p.E88* TIGD6_ENST00000515406.2_Nonsense_Mutation_p.E88* NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 88 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GCATGGATTTCTTGAAACCAA 0.443000 28 207 1.62565e-12 1.79057e-12 1 1 0 LRRC40 55631 broad.mit.edu 37 1 70618118 70618118 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:70618118G>C ENST00000370952.3 - 12 1516 c.1437C>G c.(1435-1437)ctC>ctG p.L479L NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 479 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 ATAAATACCTGAGATCTAAAA 0.294000 4 33 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92185617 92185617 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:92185617C>T ENST00000212355.4 - 9 1711 c.1246G>A c.(1246-1248)Gag>Aag p.E416K TGFBR3_ENST00000525962.1_Missense_Mutation_p.E416K|TGFBR3_ENST00000370399.2_Missense_Mutation_p.E415K NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 416 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCTTCTCCCTCTTCATTCCAG 0.577000 7 84 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000395837.1_Silent_p.P189P NM_001281720.1|NM_018955.3 NP_001268649.1|NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 3 61 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67265134 67265134 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:67265134G>C ENST00000258201.4 - 17 2871 c.2624C>G c.(2623-2625)tCt>tGt p.S875C NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 875 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ATAGAGGTCAGAGGACTCAGG 0.582000 7 46 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180475178 180475178 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:180475178C>T ENST00000327705.9 + 3 592 c.361C>T c.(361-363)Cac>Tac p.H121Y BTNL9_ENST00000515271.1_Missense_Mutation_p.H52Y|BTNL9_ENST00000376842.3_Missense_Mutation_p.H121Y|BTNL9_ENST00000376841.2_Missense_Mutation_p.H121Y NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 121 Ig-like V-type. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTGCAGCTTCACAGCATCAT 0.607000 5 32 0 0 1 0 0 NOV 4856 broad.mit.edu 37 8 120430374 120430374 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:120430374C>A ENST00000259526.3 + 3 614 c.387C>A c.(385-387)ttC>ttA p.F129L NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 129 VWFC. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTGCAAATTCCAGTGCACCT 0.527000 9 56 1.12685e-05 1.1936e-05 1 1 0 RYR2 6262 broad.mit.edu 37 1 237819281 237819281 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:237819281C>G ENST00000366574.2 + 53 8443 c.8126C>G c.(8125-8127)tCa>tGa p.S2709* RYR2_ENST00000360064.6_Nonsense_Mutation_p.S2707*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.S2693* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2709 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTGATACCTCAAAGTATGGA 0.358000 5 22 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102968151 102968151 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:102968151G>A ENST00000233954.1 + 11 1712 c.1441G>A c.(1441-1443)Gag>Aag p.E481K NM_016232.4 NP_057316.3 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 481 TIR. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GATACTTATTGAGATGGAGGC 0.552000 8 66 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68377463 68377463 + Silent SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:68377463A>C ENST00000393799.2 + 24 2827 c.2560A>C c.(2560-2562)Agg>Cgg p.R854R PPP6R3_ENST00000524904.1_Silent_p.R842R|PPP6R3_ENST00000265637.4_Silent_p.R802R|PPP6R3_ENST00000265636.5_Silent_p.R768R|PPP6R3_ENST00000529710.1_Silent_p.R768R|PPP6R3_ENST00000527403.2_Silent_p.R813R|PPP6R3_ENST00000534534.1_Silent_p.R616R|PPP6R3_ENST00000524845.1_Silent_p.R819R|PPP6R3_ENST00000393800.2_Silent_p.R848R|PPP6R3_ENST00000393801.3_Silent_p.R854R Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 848 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CGCGGCGCCCAGGCCTCCCAG 0.612000 7 40 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57840469 57840469 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:57840469G>A ENST00000321545.4 + 4 1984 c.1639G>A c.(1639-1641)Ggc>Agc p.G547S NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 547 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G547R(1) breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTTAATCGCGGCTCATCCCT 0.463000 5 74 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700638 44700638 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:44700638G>C ENST00000396056.2 + 4 1018 c.783G>C c.(781-783)caG>caC p.Q261H ZNF35_ENST00000542250.1_Missense_Mutation_p.Q101H|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 261 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CCTTCATTCAGAGTGCAAACC 0.458000 7 55 0 0 1 0 0 KIF3A 11127 broad.mit.edu 37 5 132052130 132052130 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:132052130G>A ENST00000378746.4 - 7 979 c.761C>T c.(760-762)tCa>tTa p.S254L AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.S254L|KIF3A_ENST00000403231.1_Missense_Mutation_p.S254L NM_007054.5 NP_008985.3 Q9Y496 KIF3A_HUMAN kinesin family member 3A 254 Kinesin-motor. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 25 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGTCTTTCTGAACCCTAGCA 0.328000 4 58 0 0 1 0 0 SERPINA6 866 broad.mit.edu 37 14 94780794 94780794 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:94780794G>A ENST00000341584.3 - 2 338 c.192C>T c.(190-192)ttC>ttT p.F64F NM_001756.3 NP_001747 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 64 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CAGGGGAGATGAAAATGTTCT 0.552000 7 44 0 0 1 0 0 PEX7 5191 broad.mit.edu 37 6 137167279 137167279 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:137167279C>G ENST00000541292.1 + 5 572 c.486C>G c.(484-486)atC>atG p.I162M PEX7_ENST00000318471.4_Missense_Mutation_p.I162M O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 162 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) ATAGCACAATCTGGTCTCCCC 0.388000 5 64 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636090 73636090 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:73636090C>T ENST00000377687.4 + 2 889 c.353C>T c.(352-354)tCa>tTa p.S118L KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.S27L NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 118 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GACAGTGCCTCAGTCGTAGAC 0.443000 17 243 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65197255 65197255 + Nonsense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:65197255G>C ENST00000358691.5 - 7 585 c.419C>G c.(418-420)tCa>tGa p.S140* HELZ_ENST00000580168.1_Nonsense_Mutation_p.S140*|HELZ_ENST00000580662.1_5'UTR NM_014877.3 NP_055692 helicase with zinc finger p.S140*(1) NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTCTGTTTCTGAGAGAAGTGT 0.343000 OREG0024677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 78 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44072610 44072610 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:44072610C>G ENST00000359947.4 + 21 4168 c.3828C>G c.(3826-3828)ctC>ctG p.L1276L PTPRF_ENST00000372413.3_Silent_p.L1267L|PTPRF_ENST00000372414.3_Silent_p.L1276L|PTPRF_ENST00000438120.1_Silent_p.L1267L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.L624L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1276 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TCATCATCCTCATTGTCATCG 0.622000 10 128 0 0 1 0 0 MAP3K3 4215 broad.mit.edu 37 17 61768566 61768566 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:61768566G>C ENST00000361357.3 + 14 1728 c.1410G>C c.(1408-1410)ctG>ctC p.L470L MAP3K3_ENST00000579585.1_Silent_p.L470L|MAP3K3_ENST00000584573.1_Silent_p.L466L|MAP3K3_ENST00000361733.3_Silent_p.L439L|MAP3K3_ENST00000577395.1_Silent_p.L435L NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 439 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 AGAAGACCCTGACCATCTTCA 0.577000 5 115 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31575931 31575931 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:31575931C>T ENST00000399332.1 - 38 7635 c.7147G>A c.(7147-7149)Gag>Aag p.E2383K HECTD1_ENST00000553700.1_Missense_Mutation_p.E2383K NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2383 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGTTCTTCTCATCTTCAGAA 0.378000 8 50 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57328268 57328268 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:57328268G>A ENST00000326441.9 - 10 1905 c.1542C>T c.(1540-1542)ttC>ttT p.F514F ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.F514F|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.F388F|PEG3_ENST00000598410.1_Silent_p.F390F|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 514 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CACTCTTATTGAAGGTCTCTC 0.458000 25 105 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941013 144941013 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144941013G>C ENST00000525985.1 - 2 6480 c.6409C>G c.(6409-6411)Ctc>Gtc p.L2137V P58107 EPIPL_HUMAN epiplakin 1 2137 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCAGCTGGAGCTTCTTCTCC 0.517000 19 136 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56334713 56334713 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:56334713G>A ENST00000370754.5 - 97 22425 c.22426C>T c.(22426-22428)Caa>Taa p.Q7476* DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.Q4884*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q7298*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q6972*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q5183*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q5101*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q7187* Q03001 DYST_HUMAN dystonin 7296 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGCTCAACTTGAAATCGCTTT 0.313000 11 87 0 0 1 0 0 PAF1 54623 broad.mit.edu 37 19 39880314 39880314 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:39880314G>A ENST00000221265.3 - 4 588 c.258C>T c.(256-258)ctC>ctT p.L86L PAF1_ENST00000221266.7_Silent_p.L76L|PAF1_ENST00000595564.1_Silent_p.L76L NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 86 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CAGGATTGATGAGATCGATGG 0.572000 7 96 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49177157 49177157 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:49177157C>T ENST00000307885.4 - 1 755 c.61G>A c.(61-63)Gaa>Aaa p.E21K ADCY6_ENST00000550422.1_Missense_Mutation_p.E21K|ADCY6_ENST00000357869.3_Missense_Mutation_p.E21K NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 21 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 CCATTGCGTTCACCCCAGGCT 0.582000 6 36 0 0 1 0 0 C19orf60 55049 broad.mit.edu 37 19 18700373 18700373 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:18700373C>T ENST00000358607.6 + 3 410 c.333C>T c.(331-333)ttC>ttT p.F111F C19orf60_ENST00000450195.2_Silent_p.F89F|CRLF1_ENST00000594325.1_Intron NM_001100418.1|NM_001100419.1 NP_001093888.1|NP_001093889.1 Q96EN9 CS060_HUMAN chromosome 19 open reading frame 60 111 protein binding CCCAGGCCTTCGCCGCCGCCT 0.736000 3 6 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17428510 17428510 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:17428510G>T ENST00000302539.4 - 25 3215 c.3090C>A c.(3088-3090)atC>atA p.I1030I ABCC8_ENST00000389817.3_Silent_p.I1029I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1029 ABC transmembrane type-1 2. 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) GCCAGTAGTCGATGGCCACCA 0.647000 6 97 1.06961e-07 1.15716e-07 1 1 0 INO80 54617 broad.mit.edu 37 15 41313219 41313219 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:41313219C>T ENST00000361937.3 - 26 3577 c.3153G>A c.(3151-3153)ttG>ttA p.L1051L INO80_ENST00000401393.3_Silent_p.L1051L|RP11-540O11.4_ENST00000558967.1_RNA Q9ULG1 INO80_HUMAN INO80 complex subunit 1051 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GGGCCCCATTCAACAAACACT 0.527000 10 57 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55561583 55561583 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:55561583C>T ENST00000436346.1 - 15 3215 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K CCDC88A_ENST00000336838.6_Missense_Mutation_p.E792K|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E792K|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E792K|AC012358.8_ENST00000608103.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 792 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GTTTGATTTTCCATCTCTAAG 0.318000 3 40 0 0 1 0 0 TMCO3 55002 broad.mit.edu 37 13 114154315 114154315 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:114154315G>A ENST00000434316.2 + 4 1026 c.667G>A c.(667-669)Gaa>Aaa p.E223K TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.E223K NM_017905.4 NP_060375.4 Q6UWJ1 TMCO3_HUMAN transmembrane and coiled-coil domains 3 223 Poly-Glu. E -> G (in Ref. 2; BAA91295). integral to membrane solute:hydrogen antiporter activity NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1) 25 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983) all cancers(43;0.0317) GGTGGAGGAAGAAGAGGCCAA 0.383000 4 68 0 0 1 0 0 MFSD5 84975 broad.mit.edu 37 12 53647579 53647579 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:53647579C>T ENST00000534842.1 + 2 1428 c.1281C>T c.(1279-1281)ctC>ctT p.L427L MFSD5_ENST00000329548.4_Silent_p.L320L NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 320 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TTGCTGTGCTCATCGTCGTCT 0.547000 6 75 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712174 32712174 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:32712174C>T ENST00000265074.8 + 1 635 c.292C>T c.(292-294)Cgc>Tgc p.R98C NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.R98C|NPR3_ENST00000434067.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 98 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GCCGGGCACTCGCTTCCAGGT 0.662000 3 46 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8171100 8171100 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:8171100C>G ENST00000600128.1 - 38 5119 c.4705G>C c.(4705-4707)Gag>Cag p.E1569Q FBN3_ENST00000601739.1_Missense_Mutation_p.E1569Q|FBN3_ENST00000270509.2_Missense_Mutation_p.E1569Q Q75N90 FBN3_HUMAN fibrillin 3 1569 EGF-like 24; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCTGGCAGCTCTTGGCACTCG 0.577000 7 56 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999153 72999153 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:72999153G>A ENST00000322038.5 + 2 2240 c.1656G>A c.(1654-1656)caG>caA p.Q552Q TSHZ1_ENST00000580243.1_Silent_p.Q597Q NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 597 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGGCCGTGCAGAGCGTGCAGG 0.682000 3 26 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30872614 30872614 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:30872614G>A ENST00000378933.1 - 3 1345 c.1168C>T c.(1168-1170)Caa>Taa p.Q390* TAB3_ENST00000378930.3_Nonsense_Mutation_p.Q390*|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000288422.2_Nonsense_Mutation_p.Q390*|TAB3_ENST00000378932.2_Nonsense_Mutation_p.Q390* NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 390 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 GGAGATGGTTGATTACTGATG 0.423000 4 73 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103499470 103499470 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:103499470C>T ENST00000372588.4 - 1 144 c.61G>A c.(61-63)Gag>Aag p.E21K NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 21 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 TCGATGTCCTCGCCGACTGCC 0.552000 7 157 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133433091 133433091 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:133433091C>A ENST00000266880.7 - 11 1291 c.1228G>T c.(1228-1230)Gag>Tag p.E410* CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Nonsense_Mutation_p.E410*|CHFR_ENST00000450056.2_Nonsense_Mutation_p.E398*|CHFR_ENST00000537522.1_Nonsense_Mutation_p.E32*|CHFR_ENST00000443047.2_Nonsense_Mutation_p.E318*|CHFR_ENST00000315585.7_Nonsense_Mutation_p.E369* Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 410 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TCTGACAGCTCCAGCAGGTCC 0.507000 29 99 1.2476e-16 1.3842e-16 1 1 0 YIPF3 25844 broad.mit.edu 37 6 43481144 43481144 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:43481144G>C ENST00000372422.2 - 5 669 c.487C>G c.(487-489)Ctg>Gtg p.L163V YIPF3_ENST00000506469.1_Missense_Mutation_p.L169V NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 163 cell differentiation integral to membrane|plasma membrane|transport vesicle large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1) 9 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) ATAGCAACCAGAGTGAAGACC 0.473000 7 43 0 0 1 0 0 BDNF 627 broad.mit.edu 37 11 27679688 27679688 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:27679688C>G ENST00000525528.1 - 1 1517 c.424G>C c.(424-426)Gac>Cac p.D142H BDNF_ENST00000532997.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533246.1_Missense_Mutation_p.D142H|BDNF_ENST00000525950.1_Missense_Mutation_p.D142H|BDNF_ENST00000395978.3_Missense_Mutation_p.D142H|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_Missense_Mutation_p.D142H|BDNF_ENST00000439476.2_Missense_Mutation_p.D142H|BDNF_ENST00000395981.3_Missense_Mutation_p.D142H|BDNF_ENST00000395986.2_Missense_Mutation_p.D157H|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000418212.1_Missense_Mutation_p.D142H|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.D150H|BDNF_ENST00000530861.1_Missense_Mutation_p.D142H|BDNF_ENST00000533131.1_Missense_Mutation_p.D142H|BDNF_ENST00000395980.2_Missense_Mutation_p.D142H|BDNF_ENST00000438929.1_Missense_Mutation_p.D224H|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.D142H|BDNF_ENST00000420794.1_Missense_Mutation_p.D142H NM_170735.5 NP_733931.1 P23560 BDNF_HUMAN brain-derived neurotrophic factor 142 extracellular region growth factor activity breast(1)|large_intestine(3)|lung(2) 6 CTAATACTGTCACACACGCTC 0.542000 16 112 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102516520 102516520 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:102516520G>C ENST00000360184.4 + 77 13961 c.13797G>C c.(13795-13797)gaG>gaC p.E4599D RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 4599 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 CAAACACCGAGAAGAAGGCCA 0.592000 5 62 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1041898 1041898 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:1041898G>T ENST00000360803.4 + 3 331 c.249G>T c.(247-249)atG>atT p.M83I GTPBP4_ENST00000545048.1_Missense_Mutation_p.M36I|GTPBP4_ENST00000491635.1_Intron|GTPBP4_ENST00000538293.1_Intron NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 83 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CTGATTTGATGAATATTCTCT 0.393000 3 42 0.00909568 0.00929441 1 1 0 SIGMAR1 10280 broad.mit.edu 37 9 34635839 34635839 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:34635839G>A ENST00000378892.1 - 3 622 c.195C>T c.(193-195)caC>caT p.H65H SIGMAR1_ENST00000277010.4_Silent_p.H154H|SIGMAR1_ENST00000477726.1_Silent_p.H123H|SIGMAR1_ENST00000461426.1_5'UTR Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 154 ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding large_intestine(1)|lung(1) 2 Dextromethorphan(DB00514) CACCAGGCCCGTGTACTACCG 0.647000 11 47 0 0 1 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360227 55360227 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:55360227G>A ENST00000398661.2 - 8 1006 c.875C>T c.(874-876)aCg>aTg p.T292M HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 292 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CTGAAGGGCCGTAAGGATATT 0.383000 8 67 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186331033 186331033 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:186331033C>T ENST00000411641.2 + 1 322 c.103C>T c.(103-105)Cca>Tca p.P35S AHSG_ENST00000273784.5_Missense_Mutation_p.P35S P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 35 Cystatin fetuin-A-type 1. acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CTGCGATGATCCAGAAACTGA 0.502000 7 53 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160047939 160047939 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:160047939T>C ENST00000327245.5 - 15 2677 c.1831A>G c.(1831-1833)Agc>Ggc p.S611G CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 611 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAGCCTTGCTTGAGGGTTTG 0.463000 21 218 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16908608 16908608 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:16908608G>A ENST00000524140.2 + 16 3788 c.3370G>A c.(3370-3372)Gat>Aat p.D1124N NWD1_ENST00000549814.1_Missense_Mutation_p.D1124N|NWD1_ENST00000379808.3_Missense_Mutation_p.D1124N|NWD1_ENST00000523826.1_Missense_Mutation_p.D918N|NWD1_ENST00000339803.6_Missense_Mutation_p.D989N|NWD1_ENST00000552788.1_Missense_Mutation_p.D1124N NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1124 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 CATGGCCATGGATCTGGAACA 0.537000 23 221 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21995253 21995253 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:21995253G>A ENST00000261200.4 - 27 3467 c.3468C>T c.(3466-3468)gcC>gcT p.A1156A ABCC9_ENST00000345162.2_Silent_p.A1120A|ABCC9_ENST00000261201.4_Silent_p.A1156A|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1156 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTTACTTAGAGGCAACCCGAA 0.418000 10 25 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82877138 82877138 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:82877138G>C ENST00000298281.4 + 5 1651 c.1199G>C c.(1198-1200)aGa>aCa p.R400T NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 400 Lys-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 ATGAACAAGAGAGATCCAAGA 0.338000 3 16 0 0 1 0 0 HOXC4 3221 broad.mit.edu 37 12 54447857 54447857 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:54447857G>A ENST00000430889.2 + 1 197 c.151G>A c.(151-153)Gag>Aag p.E51K HOXC4_ENST00000609810.1_Missense_Mutation_p.E51K|HOXC4_ENST00000303406.4_Missense_Mutation_p.E51K NM_153633.2 NP_705897.1 P09017 HXC4_HUMAN homeobox C4 51 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 13 TCACCACCAGGAGCTGTACCC 0.607000 16 213 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97613184 97613184 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:97613184C>T ENST00000275053.4 - 21 3424 c.3159G>A c.(3157-3159)ttG>ttA p.L1053L MMS22L_ENST00000369251.2_Silent_p.L1013L NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 1053 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 CTGTGTTTCTCAATGCCAGCA 0.363000 18 97 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37180226 37180226 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:37180226G>A ENST00000274258.7 - 28 5857 c.2270C>T c.(2269-2271)tCc>tTc p.S757F C5orf42_ENST00000425232.2_Missense_Mutation_p.S1877F|C5orf42_ENST00000508244.1_Missense_Mutation_p.S1877F E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1877 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATGAGTGATGGAAATAATATC 0.284000 3 55 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116973287 116973287 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:116973287G>T ENST00000356083.3 + 12 2739 c.2348G>T c.(2347-2349)aGg>aTg p.R783M NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 783 Collagen-like 3.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCTGGCAAGAGGGGCAAGATG 0.642000 6 94 2.52707e-12 2.7784e-12 1 1 0 DLC1 10395 broad.mit.edu 37 8 13357443 13357443 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:13357443T>C ENST00000276297.4 - 2 547 c.138A>G c.(136-138)aaA>aaG p.K46K DLC1_ENST00000316609.5_Silent_p.K46K|DLC1_ENST00000511869.1_Silent_p.K46K NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 46 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GAGTTGCATCTTTTTCCATAC 0.468000 3 190 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104678597 104678597 + Silent SNP C C T rs142276906 byFrequency TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:104678597C>T ENST00000369878.4 + 1 548 c.360C>T c.(358-360)ttC>ttT p.F120F CNNM2_ENST00000369875.3_Silent_p.F120F|CNNM2_ENST00000433628.2_Silent_p.F120F NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCATCGCCTTCACCGAGCACG 0.731000 4 25 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100971023 100971023 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:100971023C>T ENST00000375066.5 - 9 2168 c.2077G>A c.(2077-2079)Gac>Aac p.D693N TBC1D2_ENST00000375063.1_Missense_Mutation_p.D233N|TBC1D2_ENST00000342112.5_Missense_Mutation_p.D475N|TBC1D2_ENST00000375064.1_Missense_Mutation_p.D693N|TBC1D2_ENST00000493589.2_5'UTR NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 693 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CGGAGCTTGTCGGGGAAGCTG 0.642000 4 55 0 0 1 0 0 OR6C76 390326 broad.mit.edu 37 12 55820661 55820661 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:55820661G>C ENST00000328314.3 + 1 624 c.624G>C c.(622-624)ttG>ttC p.L208F NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TATCCACTTTGATATTAGTAA 0.398000 5 25 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:7577085C>T ENST00000420246.2 - 8 985 c.853G>A c.(853-855)Gag>Aag p.E285K TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 32 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32964905 32964905 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:32964905C>T ENST00000321639.5 + 10 2937 c.2609C>T c.(2608-2610)aCc>aTc p.T870I NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 870 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CCGCTGGAAACCGTGCCCGCC 0.706000 6 22 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73814150 73814150 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:73814150C>T ENST00000332687.6 - 3 462 c.244G>A c.(244-246)Gaa>Aaa p.E82K RLIM_ENST00000349225.2_Missense_Mutation_p.E82K NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 82 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCTCTATTTTCATCTGAGTTT 0.418000 5 29 0 0 1 0 0 AK7 122481 broad.mit.edu 37 14 96912869 96912869 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:96912869C>T ENST00000267584.4 + 8 839 c.795C>T c.(793-795)gtC>gtT p.V265V NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 265 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TACAAAACGTCATAGATCACG 0.443000 5 70 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230450662 230450662 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:230450662T>C ENST00000341772.4 - 4 893 c.759A>G c.(757-759)atA>atG p.I253M DNER_ENST00000482831.1_5'UTR NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 253 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TTCGTCCATCTATGAGGGAGC 0.517000 8 58 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11098861 11098861 + Splice_Site SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:11098861C>A ENST00000304623.8 - 15 2653 c.e15-1 CTNND2_ENST00000495388.2_Splice_Site|CTNND2_ENST00000503622.1_Splice_Site|CTNND2_ENST00000458100.2_Splice_Site|CTNND2_ENST00000511377.1_Splice_Site|CTNND2_ENST00000359640.2_Intron NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CTCCATCCCACTGGCGGAAGA 0.463000 7 60 0.0293803 0.0297721 1 1 0 CDK5R2 8941 broad.mit.edu 37 2 219825385 219825385 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:219825385C>G ENST00000302625.4 + 1 1009 c.843C>G c.(841-843)ctC>ctG p.L281L AC097468.7_ENST00000429343.1_RNA NM_003936.4 NP_003927.1 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 (p39) 281 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 8 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTACCCACTCAAGCCCTTCC 0.677000 6 120 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169623568 169623568 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:169623568C>A ENST00000366787.3 - 19 3025 c.2776G>T c.(2776-2778)Gat>Tat p.D926Y XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 926 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCCCGTCCATCACCTATGCAC 0.398000 6 85 3.59834e-05 3.7851e-05 1 1 0 KIAA1462 57608 broad.mit.edu 37 10 30336610 30336610 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:30336610C>T ENST00000375377.1 - 2 233 c.132G>A c.(130-132)caG>caA p.Q44Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 44 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CATGCCCGTTCTGCAGGCCCT 0.642000 6 41 0 0 1 0 0 ITGA2 3673 broad.mit.edu 37 5 52355784 52355784 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:52355784C>T ENST00000296585.5 + 11 1397 c.1254C>T c.(1252-1254)atC>atT p.I418I NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 418 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GCCATTTGATCTTTCCTAAAC 0.408000 4 41 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239993 5239993 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:5239993G>A ENST00000274181.7 + 16 2616 c.2478G>A c.(2476-2478)gaG>gaA p.E826E NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 826 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 ATGAGCCCGAGAACTTAATCG 0.517000 7 138 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872685 55872685 + Missense_Mutation SNP T T G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:55872685T>G ENST00000313503.1 + 1 167 c.167T>G c.(166-168)cTt>cGt p.L56R NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) GACCTCCAGCTTCACACTCCC 0.428000 HNSCC(53;0.14) 24 264 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156618580 156618580 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:156618580G>C ENST00000329117.5 + 6 1326 c.990G>C c.(988-990)aaG>aaC p.K330N RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.K330N NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGGTGTCAAGACTCTCTTCC 0.617000 21 209 0 0 1 0 0 WDR36 134430 broad.mit.edu 37 5 110440423 110440423 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:110440423G>A ENST00000506538.2 + 9 1675 c.1102G>A c.(1102-1104)Gaa>Aaa p.E368K WDR36_ENST00000505303.1_Missense_Mutation_p.E312K|WDR36_ENST00000513710.2_Missense_Mutation_p.E368K NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 368 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) TCCTACAGGTGAAGGCCGACT 0.418000 9 113 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20022983 20022983 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:20022983C>T ENST00000377340.2 - 9 1664 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K CRNKL1_ENST00000536226.1_Missense_Mutation_p.E384K|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E533K NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 545 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GCCTCCAATTCTTCATAGAGT 0.413000 9 92 0 0 1 0 0 PFN4 375189 broad.mit.edu 37 2 24345319 24345319 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:24345319C>G ENST00000313213.4 - 2 458 c.87G>C c.(85-87)cgG>cgC p.R29R PFN4_ENST00000465360.1_Intron NM_199346.1 NP_955378.1 Q8NHR9 PROF4_HUMAN profilin family, member 4 29 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACACAAGCTCCGCTCCTGGA 0.413000 8 103 0 0 1 0 0 SNORD113-4 767564 broad.mit.edu 37 14 101402840 101402840 + RNA SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:101402840G>A ENST00000364802.1 + 0 13 NR_003232.1 GACCAATGATGAGTACCATGG 0.323000 6 63 0 0 1 0 0 RHBDF2 79651 broad.mit.edu 37 17 74477496 74477496 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:74477496C>G ENST00000591885.1 - 3 661 c.111G>C c.(109-111)gaG>gaC p.E37D RHBDF2_ENST00000389760.4_Missense_Mutation_p.E37D|RHBDF2_ENST00000313080.4_Missense_Mutation_p.E37D|RHBDF2_ENST00000592378.1_5'UTR Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 37 negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1) 27 GGGCCTGGGTCTCTTTCTCGG 0.637000 3 43 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117128367 117128367 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:117128367C>T ENST00000310357.3 - 3 522 c.501G>A c.(499-501)gtG>gtA p.V167V GPRC6A_ENST00000368549.3_Silent_p.V167V|GPRC6A_ENST00000530250.1_Silent_p.V167V NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 167 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) ATTCATAACCCACCTGGAAAT 0.383000 5 80 0 0 1 0 0 ORC5 5001 broad.mit.edu 37 7 103848302 103848302 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:103848302G>A ENST00000297431.4 - 1 193 c.51C>T c.(49-51)atC>atT p.I17I ORC5_ENST00000485726.1_5'UTR|ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000447452.2_Silent_p.I17I NM_002553.3 NP_002544.1 O43913 ORC5_HUMAN origin recognition complex, subunit 5 17 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle cytoplasm|nuclear origin of replication recognition complex|nucleoplasm ATP binding|DNA replication origin binding|identical protein binding kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1) 14 AGGACTGCAAGATGGACACTT 0.517000 11 100 0 0 1 0 0 DHRS13 147015 broad.mit.edu 37 17 27228598 27228598 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:27228598C>T ENST00000394901.3 - 2 525 c.133G>A c.(133-135)Gac>Aac p.D45N DHRS13_ENST00000378895.4_Missense_Mutation_p.D95N|DHRS13_ENST00000426464.2_Intron Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 95 extracellular region binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CTGGCCAAGTCCAAGGCCATG 0.602000 3 81 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180048704 180048704 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:180048704G>A ENST00000261937.6 - 13 1936 c.1858C>T c.(1858-1860)Ctg>Ttg p.L620L FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.L620L|FLT4_ENST00000393347.3_Silent_p.L620L NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 620 Ig-like C2-type 6. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) CTGGCGGCCAGAGGGGTGGCG 0.682000 4 23 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74073116 74073116 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:74073116C>T ENST00000329003.3 + 2 858 c.768C>T c.(766-768)atC>atT p.I256I NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 256 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 ACGCGCTCATCCTCTGCGTGT 0.667000 4 43 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33444672 33444672 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:33444672G>A ENST00000305768.5 - 4 429 c.341C>T c.(340-342)tCt>tTt p.S114F CEP89_ENST00000590597.2_Missense_Mutation_p.S114F NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 GGATGGCAAAGAAGATCTTCT 0.443000 9 91 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62120317 62120317 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62120317C>A ENST00000217182.3 - 7 1383 c.1218G>T c.(1216-1218)ccG>ccT p.P406P EEF1A2_ENST00000298049.7_Silent_p.P406P NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 406 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) TGGGCTTTCCCGGCACCATCT 0.647000 10 72 6.40141e-05 6.72203e-05 1 1 0 MAST1 22983 broad.mit.edu 37 19 12985238 12985238 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:12985238C>T ENST00000251472.4 + 26 4306 c.4267C>T c.(4267-4269)Cgc>Tgc p.R1423C NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1423 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GACAGGCCGGCGCAGCAGCTC 0.711000 7 30 0 0 1 0 0 TXNDC5 81567 broad.mit.edu 37 6 7899902 7899902 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:7899902G>A ENST00000539054.1 - 3 209 c.210C>T c.(208-210)ttC>ttT p.F70F TXNDC5_ENST00000379757.4_Silent_p.F142F|TXNDC5_ENST00000473453.1_Silent_p.F34F|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 (endoplasmic reticulum) Thioredoxin 1. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2) 22 Ovarian(93;0.0398) GGCCTGGCTTGAAAAGCTTTA 0.438000 9 59 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130825320 130825320 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:130825320C>A ENST00000509018.1 - 15 1964 c.1759G>T c.(1759-1761)Gag>Tag p.E587* RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E302*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.E637*|RAPGEF6_ENST00000510071.1_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E587*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E587* NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 587 PDZ. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GTAATATTCTCAAAGTTTTGT 0.264000 4 14 0.014758 0.0150299 1 1 0 SMARCC1 6599 broad.mit.edu 37 3 47777526 47777526 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:47777526G>C ENST00000254480.5 - 5 693 c.574C>G c.(574-576)Cag>Gag p.Q192E SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 192 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCTATTACCTGATGTCGTTTG 0.348000 3 58 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110451669 110451669 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:110451669C>T ENST00000260283.4 - 16 2285 c.2001G>A c.(1999-2001)aaG>aaA p.K667K ARHGAP20_ENST00000357139.3_Silent_p.K641K|ARHGAP20_ENST00000533353.1_Silent_p.K641K|ARHGAP20_ENST00000528829.1_Silent_p.K631K|ARHGAP20_ENST00000529591.1_Silent_p.K210K|ARHGAP20_ENST00000527598.1_Silent_p.K631K|ARHGAP20_ENST00000524756.1_Silent_p.K644K NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 667 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GCAGTGGGATCTTTGTGTACA 0.507000 3 46 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20698699 20698699 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:20698699G>A ENST00000443026.2 + 6 929 c.383G>A c.(382-384)aGg>aAg p.R128K ABCB5_ENST00000404938.2_Intron|ABCB5_ENST00000406935.1_Intron|ABCB5_ENST00000258738.6_Intron NM_001163942.1 NP_001157414.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 0 ABC transporter 1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GATACCCCCAGGTATTCATTT 0.478000 18 159 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100696366 100696366 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:100696366G>A ENST00000306151.4 + 10 13267 c.13203G>A c.(13201-13203)ctG>ctA p.L4401L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4401 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGGTCGTGCTGATGCTGATCA 0.597000 6 47 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4428819 4428819 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:4428819C>G ENST00000301280.5 + 8 1637 c.1536C>G c.(1534-1536)ctC>ctG p.L512L NM_005483.2 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 512 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TGAAAGACCTCAAAGGCCGGC 0.612000 Chromatin Structure 11 60 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19454159 19454159 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:19454159G>A ENST00000375267.2 - 63 9189 c.9186C>T c.(9184-9186)ttC>ttT p.F3062F UBR4_ENST00000375226.2_Silent_p.F3038F|UBR4_ENST00000375254.3_Silent_p.F3062F|UBR4_ENST00000375217.2_Silent_p.F3055F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3062 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGCGGGACATGAAGACACTCA 0.488000 10 102 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402892 248402892 + Missense_Mutation SNP T T A rs138162512 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:248402892T>A ENST00000306687.1 + 1 662 c.662T>A c.(661-663)gTc>gAc p.V221D NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|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;0.0245) TATTCCCATGTCCTTCGAGCC 0.483000 7 48 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68369379 68369379 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:68369379C>T ENST00000393799.2 + 21 2508 c.2241C>T c.(2239-2241)agC>agT p.S747S PPP6R3_ENST00000524904.1_Silent_p.S741S|PPP6R3_ENST00000265637.4_Silent_p.S701S|PPP6R3_ENST00000265636.5_Silent_p.S667S|PPP6R3_ENST00000529710.1_Silent_p.S667S|PPP6R3_ENST00000527403.2_Silent_p.S712S|PPP6R3_ENST00000534534.1_Silent_p.S515S|PPP6R3_ENST00000524845.1_Silent_p.S718S|PPP6R3_ENST00000393800.2_Silent_p.S747S|PPP6R3_ENST00000393801.3_Silent_p.S747S Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 747 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGGAAACCAGCACTGAACCCA 0.517000 16 136 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100530103 100530103 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:100530103C>G ENST00000457717.1 + 13 1994 c.1738C>G c.(1738-1740)Caa>Gaa p.Q580E MTTP_ENST00000511045.1_Missense_Mutation_p.Q607E|MTTP_ENST00000265517.5_Missense_Mutation_p.Q580E|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 580 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CGCCATTGTTCAAGACATCCT 0.403000 20 100 0 0 1 0 0 MAPK9 5601 broad.mit.edu 37 5 179675973 179675973 + Splice_Site SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:179675973C>T ENST00000452135.2 - 6 914 c.616G>A c.(616-618)Gtt>Att p.V206I MAPK9_ENST00000393360.3_Splice_Site_p.V206I|MAPK9_ENST00000343111.6_Splice_Site_p.V206M|MAPK9_ENST00000425491.2_Splice_Site_p.V206I|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000347470.4_Splice_Site_p.A206T|MAPK9_ENST00000455781.1_Splice_Site_p.V206M|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000539014.1_Splice_Site_p.A206T P45984 MK09_HUMAN mitogen-activated protein kinase 9 206 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTATACTCACCGTTCTCTTTG 0.512000 34 436 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132201159 132201159 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:132201159T>C ENST00000360971.2 + 20 2105 c.2085T>C c.(2083-2085)taT>taC p.Y695Y NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 695 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GGACATCCTATACCGTGGACA 0.403000 42 192 0 0 1 0 0 ZNF286A 57335 broad.mit.edu 37 17 15604513 15604513 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:15604513G>C ENST00000464847.2 + 2 638 c.85G>C c.(85-87)Gag>Cag p.E29Q ZNF286A_ENST00000395894.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000395893.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000421016.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000472486.1_Missense_Mutation_p.E19Q|ZNF286A_ENST00000583566.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000413242.2_Missense_Mutation_p.E29Q|ZNF286A_ENST00000593105.1_Missense_Mutation_p.E19Q|ZNF286A_ENST00000580259.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000585194.1_Missense_Mutation_p.E29Q|ZNF286A_ENST00000581529.1_Missense_Mutation_p.E19Q Q9HBT8 Z286A_HUMAN zinc finger protein 286A 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) GAGCACAGAAGAGGGAGAAGT 0.498000 3 188 0 0 1 0 0 WHSC1 7468 broad.mit.edu 37 4 1957023 1957023 + Missense_Mutation SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:1957023A>C ENST00000382895.3 + 15 2905 c.2474A>C c.(2473-2475)cAc>cCc p.H825P WHSC1_ENST00000382891.5_Missense_Mutation_p.H825P|WHSC1_ENST00000382888.3_Missense_Mutation_p.H173P|WHSC1_ENST00000382892.2_Missense_Mutation_p.H825P|WHSC1_ENST00000508803.1_Missense_Mutation_p.H825P|WHSC1_ENST00000482415.2_3'UTR NM_133330.2 NP_579877.1 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 825 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGGAAGCGACACCACGCCCAC 0.612000 T IGH@ MM 10 40 0 0 1 0 0 UBE2I 7329 broad.mit.edu 37 16 1374763 1374763 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:1374763G>A ENST00000355803.4 + 7 997 c.446G>A c.(445-447)cGa>cAa p.R149Q UBE2I_ENST00000403747.2_Missense_Mutation_p.R149Q|UBE2I_ENST00000406620.1_Missense_Mutation_p.R149Q|UBE2I_ENST00000566587.1_Missense_Mutation_p.R149Q|UBE2I_ENST00000397514.3_Missense_Mutation_p.R149Q|UBE2I_ENST00000325437.5_Missense_Mutation_p.R149Q|UBE2I_ENST00000397515.2_Missense_Mutation_p.R149Q NM_194260.2 NP_919236.1 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 149 cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) AAAAGGGTCCGAGCACAAGCC 0.522000 9 59 0 0 1 0 0 C19orf60 55049 broad.mit.edu 37 19 18700384 18700384 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:18700384C>T ENST00000358607.6 + 3 421 c.344C>T c.(343-345)tCg>tTg p.S115L C19orf60_ENST00000450195.2_Missense_Mutation_p.S93L|CRLF1_ENST00000594325.1_Intron NM_001100418.1|NM_001100419.1 NP_001093888.1|NP_001093889.1 Q96EN9 CS060_HUMAN chromosome 19 open reading frame 60 115 protein binding GCCGCCGCCTCGCGGGAGGTG 0.741000 3 7 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1267276 1267276 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:1267276C>T ENST00000339381.5 + 2 482 c.450C>T c.(448-450)gcC>gcT p.A150A NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 150 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-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;0.146) Aspartame(DB00168) CAGAGCTCGCCATGGTCACCG 0.677000 17 61 0 0 1 0 0 CASP6 839 broad.mit.edu 37 4 110612078 110612078 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:110612078C>T ENST00000265164.2 - 6 648 c.571G>A c.(571-573)Gag>Aag p.E191K CASP6_ENST00000510324.1_5'UTR|CASP6_ENST00000352981.3_Missense_Mutation_p.E102K NM_001226.3 NP_001217.2 P55212 CASP6_HUMAN caspase 6, apoptosis-related cysteine peptidase 191 cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis cytosol|nucleoplasm cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000171) GCATCCACCTCAGTTATGTTG 0.468000 15 80 0 0 1 0 0 ODF1 4956 broad.mit.edu 37 8 103564039 103564039 + Silent SNP C C T rs142790437 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:103564039C>T ENST00000285402.3 + 1 240 c.84C>T c.(82-84)atC>atT p.I28I NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 28 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity p.I28I(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TGAGATGCATCGACGAATTTA 0.483000 25 145 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 989996 989996 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:989996C>T ENST00000537687.1 + 12 4365 c.3722C>T c.(3721-3723)cCg>cTg p.P1241L WNK1_ENST00000530271.2_Missense_Mutation_p.P1479L|WNK1_ENST00000315939.6_Missense_Mutation_p.P981L|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.P574L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 981 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) CCTCCCATGCCGACAGAAGTA 0.502000 5 321 0 0 1 0 0 OR2T2 401992 broad.mit.edu 37 1 248616329 248616329 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:248616329C>T ENST00000342927.3 + 1 253 c.231C>T c.(229-231)atC>atT p.I77I NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACATCTGTATCACTGTCCCCA 0.522000 6 164 0 0 1 0 0 MMP14 4323 broad.mit.edu 37 14 23306101 23306101 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:23306101C>T ENST00000311852.6 + 1 336 c.75C>T c.(73-75)ctC>ctT p.L25L MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 25 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TCGCCTCCCTCGGCTCGGCCC 0.726000 OREG0022586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 47 0 0 1 0 0 EOMES 8320 broad.mit.edu 37 3 27763709 27763709 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:27763709C>T ENST00000295743.4 - 1 280 c.77G>A c.(76-78)cGa>cAa p.R26Q EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_Missense_Mutation_p.R26Q|EOMES_ENST00000461503.1_Intron O95936 EOMES_HUMAN eomesodermin 26 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1) 21 GCTGCCGCCTCGCGCACTCTC 0.637000 4 9 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235969823 235969823 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:235969823G>A ENST00000389794.3 - 6 2787 c.2613C>T c.(2611-2613)ctC>ctT p.L871L LYST_ENST00000536965.1_Silent_p.L871L|LYST_ENST00000389793.2_Silent_p.L871L Q99698 LYST_HUMAN lysosomal trafficking regulator 871 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AAAATTTGCTGAGACTCTGAG 0.398000 14 106 0 0 1 0 0 IRF2 3660 broad.mit.edu 37 4 185340623 185340623 + Splice_Site SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:185340623C>T ENST00000393593.3 - 3 394 c.187G>A c.(187-189)Gga>Aga p.G63R IRF2_ENST00000512020.1_5'UTR NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 63 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GTTTTAGTACCTGTATGGATT 0.433000 26 92 0 0 1 0 0 NCOA4 8031 broad.mit.edu 37 10 51584877 51584877 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:51584877G>C ENST00000452682.1 + 9 1276 c.1024G>C c.(1024-1026)Gag>Cag p.E342Q NCOA4_ENST00000374082.1_Missense_Mutation_p.E326Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.E226Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.E326Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.E326Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.E160Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.E326Q|NCOA4_ENST00000438493.1_Missense_Mutation_p.E342Q NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 326 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 TGAAACCAGTGAGAAGTTTAA 0.478000 T RET papillary thyroid 5 74 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719425 140719425 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140719425C>T ENST00000394576.2 + 1 887 c.887C>T c.(886-888)tCa>tTa p.S296L PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTTAAGTCAACATCTGGA 0.443000 15 155 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179597763 179597763 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:179597763C>T ENST00000467460.1 - 5 789 c.459G>A c.(457-459)caG>caA p.Q153Q PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000472994.1_Silent_p.Q94Q|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000465751.1_Silent_p.Q129Q|PEX5L_ENST00000485199.1_Silent_p.Q118Q|PEX5L_ENST00000476138.1_Silent_p.Q110Q|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000263962.8_Silent_p.Q151Q NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 153 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) GCTGGCCTCTCTGCTCAGCAT 0.512000 9 72 0 0 1 0 0 BMP15 9210 broad.mit.edu 37 X 50659572 50659572 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:50659572G>A ENST00000252677.3 + 2 1144 c.1144G>A c.(1144-1146)Gag>Aag p.E382K NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 382 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) CAAGGAGTATGAGGGTATGAT 0.453000 7 63 0 0 1 0 0 AMOTL2 51421 broad.mit.edu 37 3 134085127 134085127 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:134085127C>G ENST00000514516.1 - 4 1536 c.1358G>C c.(1357-1359)aGa>aCa p.R453T AMOTL2_ENST00000513145.1_Missense_Mutation_p.R395T|AMOTL2_ENST00000422605.2_Missense_Mutation_p.R395T|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R395T NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 395 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GCTCTCACCTCTAAGATCCCG 0.498000 39 359 0 0 1 0 0 RGS10 6001 broad.mit.edu 37 10 121286922 121286922 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:121286922C>G ENST00000392865.1 - 2 84 c.22G>C c.(22-24)Gat>Cat p.D8H RGS10_ENST00000369101.3_Missense_Mutation_p.D14H|RGS10_ENST00000369103.2_Missense_Mutation_p.D22H NM_002925.3 NP_002916.1 O43665 RGS10_HUMAN regulator of G-protein signaling 10 14 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity breast(2)|large_intestine(1)|lung(3) 6 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) GAACTGCCATCGCTGTCGTGG 0.517000 11 69 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822689 56822689 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:56822689C>T ENST00000229201.4 - 11 1433 c.1279G>A c.(1279-1281)Gaa>Aaa p.E427K TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E428K NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 428 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GAGGCAGCTTCCTTGCGGTCA 0.532000 12 38 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5968412 5968412 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:5968412G>A ENST00000399933.3 - 3 1818 c.1819C>T c.(1819-1821)Cca>Tca p.P607S KIAA2026_ENST00000381461.2_Missense_Mutation_p.P607S NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 607 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) ATTTCACCTGGACTAAGAGGC 0.363000 5 74 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205138805 205138805 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:205138805C>G ENST00000367162.3 - 3 840 c.810G>C c.(808-810)aaG>aaC p.K270N DSTYK_ENST00000367161.3_Missense_Mutation_p.K270N|DSTYK_ENST00000367160.4_Missense_Mutation_p.K270N NM_015375.2 NP_056190.1 Q6XUX3 DUSTY_HUMAN dual serine/threonine and tyrosine protein kinase 270 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 AGGAGAAATACTTTCGGATTT 0.448000 3 55 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28296147 28296147 + Nonsense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:28296147A>T ENST00000394835.3 + 4 721 c.529A>T c.(529-531)Aaa>Taa p.K177* EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.K121*|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.K177*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.K177*|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.K177* NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 177 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 TTTGCTTGACAAACTTCTACC 0.378000 3 33 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136610439 136610439 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:136610439C>T ENST00000264156.2 - 12 1733 c.1673G>A c.(1672-1674)aGa>aAa p.R558K MCM6_ENST00000492091.1_Intron NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 558 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TTCCTCAATTCTTGAATGCAA 0.368000 7 46 0 0 1 0 0 DHRS11 79154 broad.mit.edu 37 17 34956406 34956406 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:34956406C>T ENST00000251312.5 + 6 893 c.681C>T c.(679-681)ctC>ctT p.L227L DHRS11_ENST00000590554.1_Silent_p.L148L NM_024308.3 NP_077284.2 Q6UWP2 DHR11_HUMAN dehydrogenase/reductase (SDR family) member 11 227 extracellular region binding|oxidoreductase activity endometrium(1)|lung(4) 5 CTCAGTGTCTCAAACCCGAGG 0.567000 5 31 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38537894 38537894 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr21:38537894G>A ENST00000399017.2 + 33 6125 c.3378G>A c.(3376-3378)atG>atA p.M1126I TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.M1126I|TTC3_ENST00000355666.1_Missense_Mutation_p.M1126I NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1126 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CCTTGGACATGAGTAACAAGA 0.363000 9 137 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2054650 2054650 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:2054650C>T ENST00000382203.1 + 6 1309 c.1100C>T c.(1099-1101)tCt>tTt p.S367F SMARCA2_ENST00000382194.1_Missense_Mutation_p.S367F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.S367F|SMARCA2_ENST00000357248.2_Missense_Mutation_p.S367F P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 367 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CTGCCTGGCTCTTTGCCACCA 0.443000 17 82 0 0 1 0 0 CRELD2 79174 broad.mit.edu 37 22 50318084 50318084 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:50318084G>A ENST00000404488.3 + 9 1131 c.996G>A c.(994-996)agG>agA p.R332R CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Silent_p.R283R|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Silent_p.R255R NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 283 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) GCTACGCGAGGGAGCACGGAC 0.597000 5 17 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48701395 48701395 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:48701395C>T ENST00000352832.5 + 32 6179 c.5807C>T c.(5806-5808)cCc>cTc p.P1936L CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1936L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1977L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1959L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1925L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1963L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1936L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1973L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P2029L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1929L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P2052L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1952L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1945L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1992L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P2063L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1984L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1959L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1918L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P2000L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P2018L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1913L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P2007L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1947L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1970L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1970L 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 2063 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) GCCGAGGGGCCCCTGGGACAC 0.612000 10 55 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21154159 21154159 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:21154159C>G ENST00000602326.1 - 30 4653 c.4070G>C c.(4069-4071)aGa>aCa p.R1357T EIF4G3_ENST00000536266.1_Missense_Mutation_p.R955T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R1071T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R841T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1351T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1357T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1351T NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1351 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GACCCCAGCTCTTCCAACAGG 0.388000 3 55 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89177304 89177304 + Splice_Site SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:89177304T>A ENST00000535633.1 - 5 684 c.374A>T c.(373-375)gAg>gTg p.E125V NOX4_ENST00000527626.1_Intron|NOX4_ENST00000343727.5_Splice_Site_p.E125V|NOX4_ENST00000534731.1_Splice_Site_p.E149V|NOX4_ENST00000525196.1_Splice_Site_p.E149V|NOX4_ENST00000413594.2_Splice_Site_p.E170V|NOX4_ENST00000263317.4_Splice_Site_p.E149V|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527956.1_Splice_Site_p.E125V|NOX4_ENST00000532825.1_Splice_Site_p.E125V|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000528341.1_Splice_Site_p.E124V|NOX4_ENST00000424319.1_Splice_Site_p.E125V|NOX4_ENST00000542487.1_Splice_Site_p.E125V NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 149 Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) ACCACCCACCTCATCTCGGTA 0.448000 13 125 0 0 1 0 0 UBXN1 51035 broad.mit.edu 37 11 62444099 62444099 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:62444099G>A ENST00000301935.5 - 9 1023 c.857C>T c.(856-858)tCt>tTt p.S286F UBXN1_ENST00000294119.2_3'UTR|UBXN1_ENST00000529640.1_Missense_Mutation_p.S282F|UBXN1_ENST00000533000.1_Silent_p.L80L Q04323 UBXN1_HUMAN UBX domain protein 1 286 Interaction with BRCA1.|UBX. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 GAGAACAGCAGAAGGCACGAG 0.483000 3 6 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10620148 10620148 + Nonstop_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:10620148A>G ENST00000254958.5 - 26 4170 c.3655T>C c.(3655-3657)Tag>Cag p.*1219Q JAG1_ENST00000423891.2_Nonstop_Mutation_p.*1060Q NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 0 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GCGGTCTGCTATACGATGTAC 0.522000 Alagille Syndrome 18 178 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133502151 133502151 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:133502151G>T ENST00000253861.4 + 11 1617 c.1588G>T c.(1588-1590)Gtg>Ttg p.V530L EXOC4_ENST00000539845.1_Missense_Mutation_p.V429L|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.V140L NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 530 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTTTCTCACCGTGTACATCAA 0.433000 3 34 0.150653 0.152408 1 1 0 SLC39A11 201266 broad.mit.edu 37 17 71027826 71027826 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:71027826G>A ENST00000542342.2 - 4 263 c.175C>T c.(175-177)Ctt>Ttt p.L59F SLC39A11_ENST00000255559.3_Missense_Mutation_p.L59F|SLC39A11_ENST00000579732.1_Missense_Mutation_p.L59F NM_001159770.1 NP_001153242.1 Q8N1S5 S39AB_HUMAN solute carrier family 39, member 11 59 zinc ion transport integral to membrane metal ion transmembrane transporter activity endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 GGGGCCAGAAGAGACCAATAG 0.537000 3 32 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46973161 46973161 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:46973161C>T ENST00000264318.3 - 7 1795 c.813G>A c.(811-813)gtG>gtA p.V271V NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 271 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAGAAAGAATCACTGTCATAA 0.363000 9 32 0 0 1 0 0 GIGYF1 64599 broad.mit.edu 37 7 100283075 100283075 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:100283075G>A ENST00000275732.5 - 10 2293 c.1084C>T c.(1084-1086)Cag>Tag p.Q362* GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 362 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) TTCTCCTCCTGAGGAGGCAGT 0.627000 4 30 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64457211 64457211 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:64457211C>G ENST00000358025.3 + 20 2626 c.2396C>G c.(2395-2397)tCa>tGa p.S799* SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.S799*|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S799* NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 799 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAAAATATTTCAAGCCAGGAG 0.353000 8 94 0 0 1 0 0 NFX1 4799 broad.mit.edu 37 9 33313681 33313681 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:33313681C>T ENST00000379540.3 + 7 1540 c.1478C>T c.(1477-1479)tCa>tTa p.S493L NFX1_ENST00000379521.4_Missense_Mutation_p.S493L|NFX1_ENST00000318524.6_Missense_Mutation_p.S493L NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 493 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) CAGGCTGTCTCAGTCCACTGT 0.483000 16 126 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144941802 144941802 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144941802G>A ENST00000525985.1 - 2 5691 c.5620C>T c.(5620-5622)Cgt>Tgt p.R1874C P58107 EPIPL_HUMAN epiplakin 1 1874 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTCCCCACACGAAGTGTGTGC 0.607000 9 36 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100712095 100712095 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:100712095G>A ENST00000358544.2 + 36 6575 c.6464G>A c.(6463-6465)tGc>tAc p.C2155Y VPS13B_ENST00000357162.2_Missense_Mutation_p.C2130Y|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2155 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGCAAACCATGCCTGTTAGCA 0.443000 8 56 0 0 1 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114190585 114190585 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:114190585C>T ENST00000369405.3 - 11 1642 c.1219G>A c.(1219-1221)Gag>Aag p.E407K ZDHHC6_ENST00000369404.3_Missense_Mutation_p.E403K|ZDHHC6_ENST00000482410.1_5'UTR NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 407 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) TTCTCCCCCTCTGGGGCTTGA 0.358000 6 74 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47898448 47898448 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:47898448G>A ENST00000289672.2 - 27 4235 c.4185C>T c.(4183-4185)taC>taT p.Y1395Y NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1395 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GTGCCCGGGTGTACTTGAGGA 0.502000 3 49 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555036 178555036 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:178555036G>T ENST00000251582.7 - 17 2642 c.2541C>A c.(2539-2541)aaC>aaA p.N847K NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 847 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N847N(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTTCCAGGACGTTGTTGTCGT 0.587000 12 93 6.72482e-11 7.36701e-11 1 1 0 C4orf21 55345 broad.mit.edu 37 4 113524748 113524748 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:113524748C>T ENST00000505019.1 - 10 3033 c.2908G>A c.(2908-2910)Gag>Aag p.E970K C4orf21_ENST00000309071.5_Missense_Mutation_p.E970K NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 970 p.E970*(2) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) TTTTCATACTCAGTGCTATCT 0.403000 12 72 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104111130 104111130 + Splice_Site SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:104111130A>T ENST00000369983.3 + 5 673 c.413A>T c.(412-414)cAg>cTg p.Q138L NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 138 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AAAATCCTTCAGGTAAGCGAG 0.517000 8 42 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74075572 74075572 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:74075572C>G ENST00000334586.5 + 2 233 c.150C>G c.(148-150)atC>atG p.I50M ZACN_ENST00000392503.2_Missense_Mutation_p.I50M NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 50 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 AGGAAAGCATCCAGATCCCGA 0.547000 6 37 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2155953 2155953 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:2155953G>A ENST00000262304.4 - 20 7984 c.7776C>T c.(7774-7776)acC>acT p.T2592T PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.T2592T NM_001009944.2 NP_001009944 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2592 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GCACACTAGCGGTGAGCCCGT 0.662000 4 44 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40586548 40586548 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:40586548G>A ENST00000260402.3 - 19 2229 c.1980C>T c.(1978-1980)ttC>ttT p.F660F PLCB2_ENST00000456256.2_Silent_p.F660F|PLCB2_ENST00000557821.1_Silent_p.F656F NM_001284297.1|NM_004573.2 NP_001271226.1|NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 660 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GCCGGCGCATGAACTCATGCT 0.592000 18 50 0 0 1 0 0 SOS2 6655 broad.mit.edu 37 14 50671004 50671004 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:50671004C>G ENST00000216373.5 - 2 485 c.211G>C c.(211-213)Gag>Cag p.E71Q SOS2_ENST00000543680.1_Missense_Mutation_p.E71Q NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 71 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) ATTTTTACCTCTACATCTTGA 0.313000 16 158 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160978430 160978430 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:160978430G>C ENST00000447678.1 - 30 4925 c.4805C>G c.(4804-4806)tCt>tGt p.S1602C LPA_ENST00000316300.5_Missense_Mutation_p.S1602C NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4110 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACCTGCTTCAGAATGAGCCTC 0.458000 7 111 0 0 1 0 0 ARMC7 79637 broad.mit.edu 37 17 73124975 73124975 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:73124975C>T ENST00000245543.1 + 3 741 c.439C>T c.(439-441)Cgc>Tgc p.R147C ARMC7_ENST00000579096.1_3'UTR|ARMC7_ENST00000581078.1_3'UTR NM_024585.2 NP_078861.1 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 147 binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3) 9 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) GTGCATGCTTCGCTTCTCCCT 0.692000 3 30 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196697623 196697623 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:196697623G>C ENST00000367429.4 + 15 2624 c.2384G>C c.(2383-2385)gGa>gCa p.G795A NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 795 Sushi 13. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGCATAAATGGAAGATGGGAT 0.338000 6 85 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165548711 165548711 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:165548711C>G ENST00000264381.3 - 2 277 c.111G>C c.(109-111)aaG>aaC p.K37N BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 37 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CTTTTCCATTCTTTGTTGCAA 0.408000 3 44 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52844216 52844216 + Silent SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:52844216A>C ENST00000351072.1 + 4 345 c.279A>C c.(277-279)tcA>tcC p.S93S XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375501.1_Silent_p.S93S|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000425386.1_Silent_p.S93S Q8WWM1 GAGD5_HUMAN X antigen family, member 5 93 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 TGCCAAAATCAGAGCAATTTA 0.388000 7 22 0 0 1 0 0 NAPRT1 93100 broad.mit.edu 37 8 144660103 144660103 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144660103G>C ENST00000449291.2 - 2 531 c.237C>G c.(235-237)ttC>ttG p.F79L NAPRT1_ENST00000276844.7_Missense_Mutation_p.F79L|NAPRT1_ENST00000435154.3_Missense_Mutation_p.F79L|NAPRT1_ENST00000426292.3_Missense_Mutation_p.F79L Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 79 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCGAGGCCAGGAACTGCACGT 0.672000 3 62 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67576615 67576615 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:67576615G>A ENST00000310421.4 - 1 2837 c.2579C>T c.(2578-2580)tCt>tTt p.S860F NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 860 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TGCTGCAGCAGACTGACCACC 0.428000 5 96 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126371442 126371442 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:126371442C>T ENST00000394329.3 + 9 9284 c.9271C>T c.(9271-9273)Caa>Taa p.Q3091* FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q1389* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3091 Cadherin 30. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGAATTCTCTCAAAGCCACAT 0.458000 7 47 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229455 7229455 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:7229455G>C ENST00000379938.2 + 10 1660 c.1123G>C c.(1123-1125)Gtc>Ctc p.V375L RREB1_ENST00000349384.6_Missense_Mutation_p.V375L|RREB1_ENST00000334984.6_Missense_Mutation_p.V375L|RREB1_ENST00000379933.3_Missense_Mutation_p.V375L NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 375 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CACCAAAGACGTCAGGCCTGC 0.642000 3 60 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114226103 114226103 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:114226103G>A ENST00000307546.9 + 21 3988 c.3913G>A c.(3913-3915)Gag>Aag p.E1305K MAGI3_ENST00000369615.1_3'UTR NM_001142782.1 NP_001136254.1 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1330 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCAAATGCTGAGGCCAAATT 0.478000 7 94 0 0 1 0 0 TRGC1 6966 broad.mit.edu 37 7 38304969 38304969 + RNA SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:38304969G>C ENST00000443402.2 - 0 310 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TTGGAGGAAAGATAATTTCTT 0.348000 4 33 0 0 1 0 0 GATAD2B 57459 broad.mit.edu 37 1 153784519 153784519 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:153784519C>T ENST00000368655.4 - 9 1752 c.1509G>A c.(1507-1509)atG>atA p.M503I NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 503 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TATGATGTCTCATGATGGTCT 0.458000 9 155 0 0 1 0 0 VPS37B 79720 broad.mit.edu 37 12 123380553 123380553 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:123380553G>C ENST00000267202.2 - 1 438 c.57C>G c.(55-57)aaC>aaG p.N19K NM_024667.2 NP_078943.1 Q9H9H4 VP37B_HUMAN vacuolar protein sorting 37 homolog B (S. cerevisiae) 19 cellular membrane organization|endosome transport|protein transport late endosome membrane breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205) CCAGCAGCTCGTTGAGCTGCA 0.716000 3 47 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126208126 126208126 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:126208126G>A ENST00000290868.2 - 17 1754 c.1701C>T c.(1699-1701)ttC>ttT p.F567F UROC1_ENST00000383579.3_Silent_p.F627F NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 567 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) CACCTGCACAGAAGGCAGAGC 0.468000 10 145 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46606964 46606964 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:46606964G>A ENST00000239174.6 - 2 943 c.851C>T c.(850-852)tCa>tTa p.S284L HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 284 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CGACTGGTCTGAGGCATCTCC 0.637000 6 48 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141759285 141759285 + Nonsense_Mutation SNP C C G rs146623163 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:141759285C>G ENST00000475668.2 + 32 3887 c.3833C>G c.(3832-3834)tCa>tGa p.S1278* MGAM_ENST00000549489.2_Nonsense_Mutation_p.S1278* O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1278 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTGCAGTACTCAGACATCGAC 0.567000 8 24 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49444684 49444684 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:49444684G>A ENST00000301067.7 - 10 2781 c.2782C>T c.(2782-2784)Cag>Tag p.Q928* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGCATCAGCTGAGGCGACAAG 0.547000 12 71 0 0 1 0 0 UBASH3B 84959 broad.mit.edu 37 11 122647792 122647792 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:122647792C>T ENST00000284273.5 + 3 651 c.276C>T c.(274-276)ctC>ctT p.L92L NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 92 cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) AGTACGTCCTCTACCTCCGTC 0.562000 8 65 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16262633 16262633 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:16262633G>T ENST00000375759.3 + 11 10102 c.9898G>T c.(9898-9900)Ggg>Tgg p.G3300W NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3300 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GCACTCCAGCGGGGAGCTGTT 0.627000 17 162 5.3912e-06 5.74055e-06 1 1 0 TG 7038 broad.mit.edu 37 8 133945805 133945805 + Splice_Site SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:133945805G>A ENST00000220616.4 + 24 4856 c.e24-1 TG_ENST00000377869.1_Splice_Site|TG_ENST00000542445.1_Splice_Site NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.?(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGTGCTTGCAGATTGCACAGA 0.582000 10 105 0 0 1 0 0 HIST2H2BB 338391 broad.mit.edu 37 1 149399013 149399013 + RNA SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:149399013G>T ENST00000609879.1 - 0 563 HIST2H2BB_ENST00000609585.1_RNA GGTCTTGGACGAGATGCCGGT 0.612000 13 262 3.52763e-06 3.76942e-06 1 1 0 PPP2R5E 5529 broad.mit.edu 37 14 63888788 63888788 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:63888788G>A ENST00000337537.3 - 4 981 c.379C>T c.(379-381)Ctc>Ttc p.L127F PPP2R5E_ENST00000422769.2_Missense_Mutation_p.L51F|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.L127F|PPP2R5E_ENST00000553266.1_5'UTR NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2 NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 127 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.L127V(1) endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CTAGGAGGGAGAGTTCTGAAT 0.423000 8 72 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50401158 50401158 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:50401158C>G ENST00000217086.4 - 4 2919 c.2808G>C c.(2806-2808)gaG>gaC p.E936D SALL4_ENST00000371539.3_Missense_Mutation_p.E159D|SALL4_ENST00000395997.3_Missense_Mutation_p.E499D NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 936 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCATGGTGTTCTCGATGGCCA 0.493000 8 94 0 0 1 0 0 SIDT2 51092 broad.mit.edu 37 11 117066606 117066606 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:117066606C>A ENST00000324225.4 + 25 2942 c.2411C>A c.(2410-2412)tCc>tAc p.S804Y SIDT2_ENST00000532062.1_Missense_Mutation_p.S96Y|SIDT2_ENST00000431081.2_Missense_Mutation_p.S801Y NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 804 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TTCCTCTCCTCCATCGCCATG 0.612000 17 236 8.34094e-07 8.99165e-07 1 1 0 LRRC37B 114659 broad.mit.edu 37 17 30348952 30348952 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:30348952G>C ENST00000327564.7 + 1 929 c.868G>C c.(868-870)Gag>Cag p.E290Q LRRC37B_ENST00000584368.1_Missense_Mutation_p.E275Q|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E263Q|LRRC37B_ENST00000341671.7_Missense_Mutation_p.E263Q|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E181Q Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 263 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) ATTCCATCTAGAGCCCAAAAG 0.547000 13 146 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112178932 112178932 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:112178932G>A ENST00000457016.1 + 16 8021 c.7641G>A c.(7639-7641)tgG>tgA p.W2547* CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.W2547*|APC_ENST00000508376.2_Nonsense_Mutation_p.W2547* P25054 APC_HUMAN adenomatous polyposis coli 2547 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGGAACCTGGAAACGTGAGC 0.428000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 5 56 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106797644 106797644 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:106797644G>A ENST00000276185.4 + 9 771 c.771G>A c.(769-771)atG>atA p.M257I FRMPD3_ENST00000477796.1_3'UTR Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 257 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ATCATGGAATGAAATGCCTCT 0.507000 3 9 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32826017 32826017 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:32826017G>A ENST00000380250.3 + 50 7669 c.7173G>A c.(7171-7173)aaG>aaA p.K2391K NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2391 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTTTCCAGAAGAGAACAAAAG 0.403000 10 139 0 0 1 0 0 OR10R2 343406 broad.mit.edu 37 1 158450115 158450115 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:158450115C>T ENST00000368152.1 + 1 448 c.448C>T c.(448-450)Ctg>Ttg p.L150L RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TTGTCACCCTCTGCATTACCC 0.468000 53 246 0 0 1 0 0 ANXA4 307 broad.mit.edu 37 2 70037783 70037783 + Missense_Mutation SNP G G A rs144937233 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:70037783G>A ENST00000394295.4 + 7 703 c.455G>A c.(454-456)cGa>cAa p.R152Q ANXA4_ENST00000536030.1_Missense_Mutation_p.R68Q|ANXA4_ENST00000409920.1_Missense_Mutation_p.R130Q NM_001153.3 NP_001144.1 P09525 ANXA4_HUMAN annexin A4 150 anti-apoptosis|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 ATGTTCCAGCGAGTGCTGGTG 0.473000 7 56 0 0 1 0 0 SLC41A2 84102 broad.mit.edu 37 12 105238268 105238268 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:105238268T>C ENST00000258538.3 - 9 1645 c.1518A>G c.(1516-1518)ttA>ttG p.L506L NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 506 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 CAGCGCCAAATAAATACACTA 0.318000 14 85 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32974300 32974300 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:32974300C>T ENST00000340811.4 - 9 2111 c.2003G>A c.(2002-2004)gGa>gAa p.G668E PKP2_ENST00000070846.6_Missense_Mutation_p.G712E NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 712 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGTCCACTTCCGGCCGTGAG 0.423000 7 40 0 0 1 0 0 HIST1H4H 8365 broad.mit.edu 37 6 26285538 26285538 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:26285538C>G ENST00000289352.1 - 1 224 c.190G>C c.(190-192)Gag>Cag p.E64Q HIST1H4H_ENST00000377727.1_Missense_Mutation_p.E64Q P62805 H4_HUMAN histone cluster 1, H4h 64 E -> Q (in a breast cancer sample; somatic mutation). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(2)|ovary(2)|upper_aerodigestive_tract(3) 7 ATCACGTTCTCCAGGAACACC 0.562000 HNSCC(76;0.23) 7 89 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215768802 215768802 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:215768802C>G ENST00000259154.4 + 10 1216 c.922C>G c.(922-924)Cag>Gag p.Q308E NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 308 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TGCTGTCACTCAGCACTGGCA 0.403000 6 64 0 0 1 0 0 TPRG1L 127262 broad.mit.edu 37 1 3542384 3542384 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:3542384G>T ENST00000378344.2 + 3 472 c.401G>T c.(400-402)cGg>cTg p.R134L TPRG1L_ENST00000344579.5_Intron NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 134 cell junction|synaptic vesicle endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1) 8 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) CAGGTGGTGCGGATAGCGCTC 0.517000 3 61 1 1 1 1 0 LY75 4065 broad.mit.edu 37 2 160698844 160698844 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:160698844G>C ENST00000263636.4 - 24 3219 c.3192C>G c.(3190-3192)ctC>ctG p.L1064L LY75_ENST00000554112.1_Silent_p.L1064L|LY75-CD302_ENST00000505052.1_Silent_p.L1064L|LY75_ENST00000553424.1_Silent_p.L1064L|LY75-CD302_ENST00000504764.1_Silent_p.L1064L NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TTTGGAGGTTGAGTATTAGGG 0.403000 7 47 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56822054 56822054 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:56822054C>T ENST00000229201.4 - 13 1695 c.1541G>A c.(1540-1542)cGa>cAa p.R514Q TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R515Q NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 515 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CCGACAGAATCGCTCCAACAT 0.542000 13 58 0 0 1 0 0 DAP3 7818 broad.mit.edu 37 1 155695260 155695260 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:155695260C>G ENST00000368336.5 + 5 482 c.358C>G c.(358-360)Cca>Gca p.P120A DAP3_ENST00000421487.2_Missense_Mutation_p.P86A|DAP3_ENST00000535183.1_Missense_Mutation_p.P79A|DAP3_ENST00000496863.1_3'UTR|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.P120A|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.P79A NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 120 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TTTTGCTTATCCAGCTATACG 0.428000 25 160 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44426671 44426671 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:44426671G>C ENST00000372343.3 + 13 2895 c.2233G>C c.(2233-2235)Gac>Cac p.D745H NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 745 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTCTGCTCTTGACCTCACTCG 0.617000 6 60 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79270147 79270147 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:79270147C>G ENST00000554719.1 + 6 1601 c.1110C>G c.(1108-1110)gtC>gtG p.V370V NRXN3_ENST00000335750.5_Silent_p.V370V NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 148 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GGGGGCGTGTCAAGCTCATGG 0.522000 5 42 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33577919 33577919 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:33577919C>G ENST00000262873.7 + 19 2088 c.1996C>G c.(1996-1998)Ctc>Gtc p.L666V NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 624 Actin-binding (By similarity).|Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CCTGGCGACTCTCTATGAGAA 0.552000 11 134 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17107611 17107611 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:17107611G>A ENST00000377833.4 - 22 3100 c.3035C>T c.(3034-3036)tCt>tTt p.S1012F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1012 CUB 5. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTTGTGAGAGATGGCGGGAT 0.403000 19 161 0 0 1 0 0 AKNAD1 254268 broad.mit.edu 37 1 109366068 109366068 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:109366068C>T ENST00000370001.3 - 13 2359 c.2091G>A c.(2089-2091)caG>caA p.Q697Q AKNAD1_ENST00000369995.3_Silent_p.Q697Q|AKNAD1_ENST00000369994.1_Silent_p.Q667Q|AKNAD1_ENST00000357393.4_Silent_p.Q404Q NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 697 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TTGAGTAATTCTGTCCTGGAG 0.408000 7 70 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 432754 432754 + Silent SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:432754T>C ENST00000256509.2 + 22 3345 c.2703T>C c.(2701-2703)ttT>ttC p.F901F CHL1_ENST00000397491.2_Silent_p.F885F NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 885 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TAGATGCCTTTAGTGAATTTC 0.383000 13 46 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45950980 45950980 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr21:45950980C>T ENST00000323084.4 - 4 644 c.579G>A c.(577-579)gtG>gtA p.V193V TSPEAR_ENST00000397916.1_Silent_p.V125V NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 193 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GAGCTCCTTTCACTGACAGGG 0.567000 4 44 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112166859 112166859 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:112166859C>T ENST00000412145.1 - 14 3982 c.1429G>A c.(1429-1431)Gaa>Aaa p.E477K PTPN3_ENST00000374541.2_Missense_Mutation_p.E608K|PTPN3_ENST00000262539.3_Missense_Mutation_p.E454K|PTPN3_ENST00000394827.3_Missense_Mutation_p.E76K|PTPN3_ENST00000446349.1_Missense_Mutation_p.E432K NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 608 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 agttcatcttcagacttgaag 0.493000 20 90 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75968309 75968309 + Missense_Mutation SNP G G A rs139798032 byFrequency TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:75968309G>A ENST00000308508.5 - 10 6643 c.6551C>T c.(6550-6552)aCg>aTg p.T2184M NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 2184 Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 CCCTGCTTCCGTCCGGGCGGC 0.687000 3 13 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213405500 213405500 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:213405500G>C ENST00000366960.3 + 10 1277 c.1127G>C c.(1126-1128)aGa>aCa p.R376T RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.R79T|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R364T|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R164T NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 376 Protein kinase 1. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) AGCAGGAACAGAAAGACCATC 0.488000 10 88 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57289713 57289713 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:57289713G>C ENST00000543872.2 + 3 2035 c.1771G>C c.(1771-1773)Gag>Cag p.E591Q SMG8_ENST00000300917.5_Missense_Mutation_p.E591Q|SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 591 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 AGAAAAACCAGAGGCTGATAG 0.408000 6 135 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 102029397 102029397 + Missense_Mutation SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:102029397A>C ENST00000251127.6 - 5 467 c.386T>G c.(385-387)aTt>aGt p.I129S NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.I129S|NALCN_ENST00000376196.3_Missense_Mutation_p.I129S NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 129 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TATATCAGCAATTTCAAACAC 0.403000 5 83 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24484496 24484496 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:24484496G>A ENST00000355123.4 - 21 2914 c.2471C>T c.(2470-2472)gCt>gTt p.A824V ITSN2_ENST00000361999.3_Missense_Mutation_p.A797V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A824V NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 824 KAVSPK -> FAAAST (in Ref. 6; AAD00899). endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGAGATACAGCTTTTTCATT 0.363000 8 66 0 0 1 0 0 PLA2G4B 100137049 broad.mit.edu 37 15 42134022 42134022 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:42134022G>A ENST00000542534.2 + 13 1229 c.1189G>A c.(1189-1191)Gag>Aag p.E397K JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E397K|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E397K|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.E166K|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E166K NM_005090.3 NP_005081.1 phospholipase A2, group IVB (cytosolic) all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371) TCCAGCCTCAGAGCACAGAGT 0.637000 5 19 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34015011 34015011 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:34015011G>A ENST00000389232.4 + 44 6785 c.6715G>A c.(6715-6717)Ggg>Agg p.G2239R RYR3_ENST00000415757.3_Missense_Mutation_p.G2239R NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2239 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.G2239W(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGGGGGAAACGGGCTCTTGGC 0.572000 23 117 0 0 1 0 0 ARHGEF35 445328 broad.mit.edu 37 7 143884376 143884376 + Missense_Mutation SNP T T G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:143884376T>G ENST00000378115.2 - 2 1230 c.1101A>C c.(1099-1101)aaA>aaC p.K367N ARHGEF35_ENST00000543357.1_Missense_Mutation_p.K367N NM_001003702.2 NP_001003702.2 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 35 367 Glu-rich. kidney(1)|large_intestine(1)|lung(3)|stomach(1) 6 CTGGGACCCCTTTCTCCTTTA 0.537000 4 32 0 0 1 0 0 CPNE6 9362 broad.mit.edu 37 14 24546495 24546495 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:24546495G>T ENST00000397016.2 + 16 1743 c.1432G>T c.(1432-1434)Gac>Tac p.D478Y CPNE6_ENST00000216775.2_Missense_Mutation_p.D478Y|CPNE6_ENST00000537691.1_Missense_Mutation_p.D533Y NM_001280558.1 NP_001267487.1 O95741 CPNE6_HUMAN copine VI (neuronal) 478 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(265;0.0184) TGACTTCTCTGACATGCGGCT 0.627000 8 80 0.361761 0.363555 1 1 0 KNDC1 85442 broad.mit.edu 37 10 134981812 134981812 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:134981812T>C ENST00000304613.3 + 3 377 c.356T>C c.(355-357)tTt>tCt p.F119S KNDC1_ENST00000368571.2_Missense_Mutation_p.F54S|KNDC1_ENST00000368572.2_Missense_Mutation_p.F119S|KNDC1_ENST00000530127.1_3'UTR Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 119 KIND 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GGGAACACCTTTGAGGTAAGT 0.582000 10 73 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59345738 59345738 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:59345738A>T ENST00000399598.2 + 4 481 c.359A>T c.(358-360)tAc>tTc p.Y120F UBXN2B_ENST00000522978.1_3'UTR NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 120 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GGTGGAGGATACAGATTGGGT 0.289000 15 242 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150906195 150906195 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:150906195C>T ENST00000474524.1 + 12 1719 c.1681C>T c.(1681-1683)Ctt>Ttt p.L561F MED12L_ENST00000273432.4_Missense_Mutation_p.L421F|MED12L_ENST00000309237.4_Missense_Mutation_p.L561F|MED12L_ENST00000422248.2_Missense_Mutation_p.L561F NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 561 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCATCCTCTCTTGCTGGATC 0.373000 5 66 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25849234 25849234 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:25849234G>A ENST00000399878.3 - 2 537 c.415C>T c.(415-417)Cac>Tac p.H139Y SEL1L3_ENST00000264868.5_Missense_Mutation_p.H104Y|SEL1L3_ENST00000502949.1_5'UTR|SEL1L3_ENST00000513364.1_Intron NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 139 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CTGCTGGTGTGAAGATGTTTC 0.388000 5 41 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387392 46387392 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:46387392C>T ENST00000302165.3 - 1 1984 c.1641G>A c.(1639-1641)ccG>ccA p.P547P NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 547 Cys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) TGTCTCCGCTCGGGCAGTACA 0.637000 4 37 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1076861 1076861 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:1076861C>T ENST00000264930.5 - 13 1739 c.1696G>A c.(1696-1698)Gag>Aag p.E566K NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 566 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ATGCCAGTCTCGCAGATGAGG 0.652000 6 77 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787121 73787121 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:73787121C>G ENST00000342056.2 + 4 1091 c.693C>G c.(691-693)ctC>ctG p.L231L KCNQ5_ENST00000370398.1_Silent_p.L231L|KCNQ5_ENST00000402622.2_Silent_p.L231L|KCNQ5_ENST00000403813.2_Silent_p.L231L|KCNQ5_ENST00000355635.3_Silent_p.L231L|KCNQ5_ENST00000355194.4_Silent_p.L231L|KCNQ5_ENST00000370392.1_Silent_p.L231L|KCNQ5_ENST00000414165.2_Silent_p.L231L NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 231 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CGTCTGCACTCAGAAGTCTCC 0.463000 7 61 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36877001 36877001 + Splice_Site SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:36877001G>A ENST00000325718.7 + 16 2533 c.e16+1 NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TTCTTCTGAGGTGGGCGCTAC 0.632000 T MLL AL 5 38 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14850274 14850274 + Nonsense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr18:14850274A>T ENST00000358984.4 + 35 3280 c.3100A>T c.(3100-3102)Aga>Tga p.R1034* NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1119 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 AGAAAAAATTAGACCCGAAGA 0.279000 6 16 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 30002499 30002499 + Silent SNP G G A rs138517482 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:30002499G>A ENST00000279394.3 + 19 3163 c.2760G>A c.(2758-2760)ctG>ctA p.L920L NM_004783.3 NP_004774.1 Q9UL54 TAOK2_HUMAN TAO kinase 2 809 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GCATGGCTCTGGGGGGCATCC 0.677000 12 102 0 0 1 0 0 ASAH1 427 broad.mit.edu 37 8 17928835 17928835 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:17928835C>T ENST00000262097.6 - 3 501 c.190G>A c.(190-192)Gaa>Aaa p.E64K ASAH1_ENST00000417108.2_5'UTR|ASAH1_ENST00000381733.4_Missense_Mutation_p.E80K|ASAH1_ENST00000520781.1_Missense_Mutation_p.E64K|ASAH1_ENST00000520051.1_5'UTR|ASAH1_ENST00000314146.10_Missense_Mutation_p.E87K NM_177924.3 NP_808592.2 Q13510 ASAH1_HUMAN N-acylsphingosine amidohydrolase (acid ceramidase) 1 64 ceramide metabolic process lysosome ceramidase activity breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) AGCATCAATTCATGCCATCTT 0.313000 4 22 0 0 1 0 0 PMF1 11243 broad.mit.edu 37 1 156182917 156182917 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:156182917C>T ENST00000368277.3 + 1 120 c.111C>T c.(109-111)ctC>ctT p.L37L PMF1-BGLAP_ENST00000490491.1_Silent_p.L37L|PMF1_ENST00000565805.1_Silent_p.L37L|PMF1_ENST00000567140.1_Silent_p.L37L|PMF1-BGLAP_ENST00000368276.4_Silent_p.L37L|PMF1_ENST00000368279.3_Silent_p.L37L|PMF1-BGLAP_ENST00000320139.5_Silent_p.L37L|PMF1_ENST00000368273.4_Silent_p.L37L NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) GGGTGAAGCTCCTCGACACCA 0.577000 5 52 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41911842 41911842 + Silent SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:41911842A>T ENST00000396512.3 + 6 773 c.756A>T c.(754-756)gcA>gcT p.A252A ACO2_ENST00000216254.4_Silent_p.A252A|ACO2_ENST00000466237.1_3'UTR Q99798 ACON_HUMAN aconitase 2, mitochondrial 252 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 TGAAGGTGGCAGGCATCCTCA 0.612000 9 72 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55672075 55672075 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:55672075C>T ENST00000527223.2 - 9 1186 c.1185G>A c.(1183-1185)gcG>gcA p.A395A DNAAF3_ENST00000391720.4_Silent_p.A374A|DNAAF3_ENST00000524407.2_Silent_p.A327A|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_Silent_p.A273A NM_001256714.1 NP_001243643 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 327 CGGTGGCTCTCGCGCGCCCCC 0.682000 OREG0025678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 61 0 0 1 0 0 CBX8 57332 broad.mit.edu 37 17 77768460 77768460 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:77768460G>A ENST00000269385.4 - 5 1261 c.1144C>T c.(1144-1146)Caa>Taa p.Q382* NM_020649.2 NP_065700.1 Q9HC52 CBX8_HUMAN chromobox homolog 8 382 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding p.D381fs*>5(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1) 14 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AAAAAGCCTTGGTCCGTGTTA 0.498000 13 212 0 0 1 0 0 CASP10 843 broad.mit.edu 37 2 202073797 202073797 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:202073797C>T ENST00000286186.6 + 9 1362 c.927C>T c.(925-927)atC>atT p.I309I CASP10_ENST00000346817.5_Silent_p.I266I|CASP10_ENST00000448480.1_Silent_p.I266I|CASP10_ENST00000313728.7_Silent_p.I242I|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Silent_p.I309I NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 309 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 AAACAGAGATCCTGAGTCATG 0.378000 6 42 0 0 1 0 0 NUDCD1 84955 broad.mit.edu 37 8 110255327 110255327 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:110255327G>A ENST00000239690.4 - 10 2037 c.1663C>T c.(1663-1665)Cct>Tct p.P555S NUDCD1_ENST00000427660.2_Missense_Mutation_p.P526S NM_032869.3 NP_116258.2 Q96RS6 NUDC1_HUMAN NudC domain containing 1 555 breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1) 25 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CCTAAAATAGGATCATTGGTT 0.368000 32 212 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144871824 144871824 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:144871824G>A ENST00000369359.4 - 35 5584 c.5546C>T c.(5545-5547)tCa>tTa p.S1849L PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1713L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1713L|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1798L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1713 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.S1713L(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGATGGAGCTGAGGGCAATGG 0.532000 T PDGFRB MPD 6 114 0 0 1 0 0 ATP6V0B 533 broad.mit.edu 37 1 44442265 44442265 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:44442265C>T ENST00000532642.1 + 5 379 c.282C>T c.(280-282)atC>atT p.I94I ATP6V0B_ENST00000472277.1_Intron|ATP6V0B_ENST00000498664.1_Silent_p.I47I|ATP6V0B_ENST00000472174.2_Silent_p.I94I|ATP6V0B_ENST00000236067.4_Silent_p.I47I|ATP6V0B_ENST00000471859.2_Silent_p.I141I Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 94 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(2)|kidney(1)|large_intestine(3)|lung(3) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) CTACCAGCATCATCTTCTGTG 0.502000 8 88 0 0 1 0 0 FAM24A 118670 broad.mit.edu 37 10 124671218 124671218 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:124671218C>T ENST00000368894.1 + 2 189 c.68C>T c.(67-69)gCg>gTg p.A23V NM_001029888.1 NP_001025059.1 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 23 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) CTGGTTGCCGCGATGGTGCTC 0.473000 51 284 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67575769 67575769 + Splice_Site SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:67575769G>C ENST00000540839.3 + 14 1360 c.e14-1 FAM65A_ENST00000428437.2_Splice_Site|FAM65A_ENST00000042381.4_Splice_Site|FAM65A_ENST00000422602.2_Splice_Site|FAM65A_ENST00000379312.3_Splice_Site Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CTCTTTCTCAGAACATGCTGC 0.577000 4 57 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119228516 119228516 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:119228516C>A ENST00000260187.2 - 10 1746 c.1452G>T c.(1450-1452)cgG>cgT p.R484R USP2_ENST00000455332.2_Silent_p.R241R|USP2_ENST00000525735.1_Silent_p.R275R NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 484 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) TCTTTATACACCGTTTTCTGC 0.498000 30 309 3.11337e-16 3.44169e-16 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139158273 139158273 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:139158273G>T ENST00000395297.1 - 15 3639 c.3469C>A c.(3469-3471)Ctg>Atg p.L1157M NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1157 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCTTTACCAGCCGGAGGTCT 0.433000 HNSCC(54;0.14) 12 51 0.00010058 0.000105254 1 1 0 TMTC2 160335 broad.mit.edu 37 12 83455601 83455601 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:83455601G>A ENST00000549919.1 + 12 4109 c.2304G>A c.(2302-2304)ctG>ctA p.L768L TMTC2_ENST00000321196.3_Silent_p.L774L Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 774 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CAGCCAGGCTGAGGCCTAATG 0.353000 11 121 0 0 1 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132579 59132579 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:59132579G>C ENST00000313940.2 + 1 695 c.648G>C c.(646-648)atG>atC p.M216I NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 TAGTTATCATGATATCCTATG 0.418000 11 139 0 0 1 0 0 UAP1 6675 broad.mit.edu 37 1 162549315 162549315 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:162549315C>T ENST00000271469.3 + 4 885 c.583C>T c.(583-585)Cag>Tag p.Q195* UAP1_ENST00000367924.1_Nonsense_Mutation_p.Q195*|UAP1_ENST00000367926.4_Nonsense_Mutation_p.Q195*|UAP1_ENST00000367925.1_Nonsense_Mutation_p.Q195* Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 195 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AATCTTTTTTCAGCAAGGAAT 0.358000 9 68 0 0 1 0 0 KIAA1430 57587 broad.mit.edu 37 4 186111383 186111383 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:186111383G>A ENST00000458385.2 - 2 1087 c.968C>T c.(967-969)tCg>tTg p.S323L KIAA1430_ENST00000296775.6_Missense_Mutation_p.S323L|KIAA1430_ENST00000514798.1_Missense_Mutation_p.S323L NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 323 endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) CACTGAAGACGACTTTGAGGA 0.338000 4 25 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33591520 33591520 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:33591520G>C ENST00000299977.4 + 4 1605 c.1457G>C c.(1456-1458)gGg>gCg p.G486A SLFN5_ENST00000542451.1_Intron NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 486 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GGCTACACTGGGAGGTTATGC 0.453000 8 61 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20685503 20685503 + Splice_Site SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:20685503G>A ENST00000404938.2 + 8 1455 c.803G>A c.(802-804)aGg>aAg p.R268K NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 454 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAACTTCAAAGGTCTTTCCTT 0.398000 13 87 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137782615 137782615 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:137782615G>A ENST00000242375.3 + 4 424 c.382G>A c.(382-384)Gga>Aga p.G128R AKR1D1_ENST00000432161.1_Missense_Mutation_p.G128R|AKR1D1_ENST00000411726.2_Missense_Mutation_p.G128R|AKR1D1_ENST00000468877.2_3'UTR NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 128 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 ttttCAGCCAGGAGATGAAAT 0.308000 25 74 0 0 1 0 0 NT5DC3 51559 broad.mit.edu 37 12 104182660 104182660 + Missense_Mutation SNP A A T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:104182660A>T ENST00000392876.3 - 10 1097 c.1057T>A c.(1057-1059)Tgg>Agg p.W353R NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 353 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 ATTTTATCCCAGAGTAAGACA 0.403000 35 196 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53578272 53578272 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:53578272C>G ENST00000342160.3 - 63 9508 c.9051G>C c.(9049-9051)gtG>gtC p.V3017V HUWE1_ENST00000262854.6_Silent_p.V3017V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3017 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACTCAGGGCTCACTTCAGTCA 0.597000 4 9 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87757941 87757941 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:87757941G>C ENST00000398204.4 + 9 1026 c.703G>C c.(703-705)Gaa>Caa p.E235Q ADAM22_ENST00000398201.4_Missense_Mutation_p.E235Q|ADAM22_ENST00000265727.7_Missense_Mutation_p.E235Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.E235Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.E235Q|ADAM22_ENST00000439864.1_Missense_Mutation_p.E235Q NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 235 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TCGTAATGTAGAAGAAGAAAC 0.393000 9 133 0 0 1 0 0 C1orf131 128061 broad.mit.edu 37 1 231364906 231364906 + Missense_Mutation SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:231364906T>A ENST00000318906.2 - 3 528 c.500A>T c.(499-501)aAc>aTc p.N167I C1orf131_ENST00000366649.2_Missense_Mutation_p.N167I|C1orf131_ENST00000366651.3_Missense_Mutation_p.N166I Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 167 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) TTTTTCTAGGTTAAATTCTTG 0.229000 3 38 0 0 1 0 0 IL36B 27177 broad.mit.edu 37 2 113783751 113783751 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:113783751T>C ENST00000259213.4 - 5 427 c.320A>G c.(319-321)cAc>cGc p.H107R NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 107 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 tatgcatgtgtgaattccaac 0.458000 9 67 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640173 99640173 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:99640173G>C ENST00000547776.2 - 13 2225 c.2226C>G c.(2224-2226)ctC>ctG p.L742L ANKS1B_ENST00000329257.7_Silent_p.L742L|ANKS1B_ENST00000547010.1_Silent_p.L322L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 742 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GATAGGCAATGAGATCAGAAT 0.413000 11 45 0 0 1 0 0 TNNI1 7135 broad.mit.edu 37 1 201383732 201383732 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:201383732C>T ENST00000361379.4 - 5 195 c.103G>A c.(103-105)Gag>Aag p.E35K TNNI1_ENST00000367312.1_Missense_Mutation_p.E35K|TNNI1_ENST00000336092.4_Missense_Mutation_p.E35K|TNNI1_ENST00000555948.1_Missense_Mutation_p.E35K NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 35 Involved in binding TNC. muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 TCGCGCTCCTCGTGCTCCTGC 0.662000 6 46 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37771107 37771107 + Silent SNP G G A rs150477054 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:37771107G>A ENST00000402918.2 - 3 1253 c.468C>T c.(466-468)atC>atT p.I156I RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AGGACAGGTCGATGCTGATGA 0.642000 7 86 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105281023 105281023 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:105281023G>C ENST00000327674.4 - 1 362 c.27C>G c.(25-27)ctC>ctG p.L9L SERPINA7_ENST00000372563.1_Silent_p.L9L P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 9 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) CAAGTACCAAGAGAACCAGAT 0.448000 12 38 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13735275 13735275 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:13735275C>T ENST00000265104.4 - 68 11830 c.11726G>A c.(11725-11727)cGa>cAa p.R3909Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3909 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) ATGCTTGACTCGGTTCCTCTG 0.438000 Kartagener syndrome 8 110 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37441804 37441804 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:37441804G>A ENST00000415168.1 + 5 1933 c.1557G>A c.(1555-1557)gaG>gaA p.E519E ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Silent_p.E583E|ZNF568_ENST00000455427.2_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACACAGGGGAGAAACCCTATG 0.378000 5 93 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153701122 153701122 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:153701122G>A ENST00000318967.2 + 1 580 c.12G>A c.(10-12)caG>caA p.Q4Q INTS3_ENST00000435409.2_Silent_p.Q4Q|INTS3_ENST00000456435.1_5'UTR NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 4 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGAGTTGCAGAAGGGAAAAG 0.647000 8 68 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40139965 40139965 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:40139965C>T ENST00000325157.6 - 7 1793 c.1543G>A c.(1543-1545)Gag>Aag p.E515K NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 515 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) GTGGAAAACTCCCCCCAGTGA 0.413000 4 38 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58576138 58576138 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:58576138C>T ENST00000317147.5 - 33 5009 c.4677G>A c.(4675-4677)ctG>ctA p.L1559L CNOT1_ENST00000245138.4_Silent_p.L410L|CNOT1_ENST00000569240.1_Silent_p.L1554L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1559 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTCTCACTTTCAGCCTGATTT 0.418000 7 43 0 0 1 0 0 PUF60 22827 broad.mit.edu 37 8 144899273 144899273 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144899273G>A ENST00000526683.1 - 11 1742 c.1187C>T c.(1186-1188)tCg>tTg p.S396L PUF60_ENST00000313352.7_Missense_Mutation_p.S336L|PUF60_ENST00000456095.2_Missense_Mutation_p.S367L|PUF60_ENST00000453551.2_Missense_Mutation_p.S353L|PUF60_ENST00000349157.6_Missense_Mutation_p.S379L|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.S350L NM_001271098.1|NM_078480.2 NP_001258027.1|NP_510965.1 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa 396 Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2) 14 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CACTCCCACCGAGGGGATGGT 0.612000 3 17 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 118039474 118039474 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:118039474G>A ENST00000356554.3 + 10 2109 c.1374G>A c.(1372-1374)ggG>ggA p.G458G NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 458 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AAAAGATGGGGCATTTGGCCT 0.438000 15 118 0 0 1 0 0 TPD52L2 7165 broad.mit.edu 37 20 62500783 62500783 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62500783G>C ENST00000217121.5 + 2 226 c.154G>C c.(154-156)Gag>Cag p.E52Q TPD52L2_ENST00000348257.5_Missense_Mutation_p.E52Q|TPD52L2_ENST00000352482.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000351424.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000358548.4_Missense_Mutation_p.E52Q|TPD52L2_ENST00000369927.4_Missense_Mutation_p.E29Q|TPD52L2_ENST00000346249.4_Missense_Mutation_p.E52Q NM_199360.2 NP_955392.1 O43399 TPD54_HUMAN tumor protein D52-like 2 52 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) GCTCAGGGCTGAGCTTACCAA 0.597000 6 78 0 0 1 0 0 TEKT3 64518 broad.mit.edu 37 17 15234758 15234758 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:15234758G>A ENST00000395930.1 - 3 331 c.145C>T c.(145-147)Cct>Tct p.P49S TEKT3_ENST00000338696.2_Missense_Mutation_p.P49S NM_031898.2 NP_114104.1 Q9BXF9 TEKT3_HUMAN tektin 3 49 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 23 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GGTCTCCAAGGAAGGCTCAGG 0.542000 4 30 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50252990 50252990 + RNA SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:50252990G>A ENST00000420502.1 + 0 541 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) CCGTGCCTATGAGCAGCTGGG 0.627000 4 52 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726881 32726881 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:32726881G>C ENST00000435145.2 - 3 453 c.392C>G c.(391-393)tCc>tGc p.S131C HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.S131C|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.S131C Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 131 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CTCTGTCCTGGATGGGGAGAT 0.552000 3 73 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912847 101912847 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:101912847C>T ENST00000537097.1 + 6 4819 c.4006C>T c.(4006-4008)Caa>Taa p.Q1336* RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q1336*|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q1336*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q1336* NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1336 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGACAATATTCAAATTGTTCT 0.328000 7 32 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50243088 50243088 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:50243088C>A ENST00000246801.3 - 11 1806 c.1724G>T c.(1723-1725)gGa>gTa p.G575V TSKS_ENST00000358830.3_Missense_Mutation_p.G375V NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 575 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) ACTGCTGCCTCCCCCCATTGT 0.552000 13 102 0.000219431 0.000228841 1 1 0 ZCWPW1 55063 broad.mit.edu 37 7 99998716 99998716 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:99998716C>G ENST00000398027.2 - 18 2115 c.1868G>C c.(1867-1869)aGa>aCa p.R623T ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R452T|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R452T NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 623 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCCAGCTCTCTCCCAACATC 0.622000 5 53 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21897300 21897300 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:21897300C>T ENST00000399982.2 - 2 1102 c.1038G>A c.(1036-1038)caG>caA p.Q346Q CHD8_ENST00000557364.1_Silent_p.Q346Q|CHD8_ENST00000430710.3_Silent_p.Q67Q|CHD8_ENST00000555962.1_Intron NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 346 Gln-rich. ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTTGCTGTGGCTGCTGCACCT 0.567000 9 87 0 0 1 0 0 NUDT4 11163 broad.mit.edu 37 12 93792607 93792607 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:93792607G>C ENST00000337179.5 + 4 759 c.319G>C c.(319-321)Gat>Cat p.D107H NUDT4_ENST00000547014.1_Missense_Mutation_p.D55H|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54H|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54H|NUDT4_ENST00000415493.2_Missense_Mutation_p.D106H NM_199040.2 NP_950241.1 Q9NZJ9 NUDT4_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 4 106 Nudix hydrolase. calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding endometrium(2)|kidney(1)|lung(2) 5 AATATTAGAAGATTGGGAAGA 0.323000 3 26 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12123010 12123010 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:12123010G>A ENST00000379388.2 + 4 3314 c.2982G>A c.(2980-2982)atG>atA p.M994I NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 994 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGGTAGCCATGAGAGAACCTG 0.473000 9 256 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50768754 50768754 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:50768754C>T ENST00000216923.4 - 6 2326 c.1977G>A c.(1975-1977)caG>caA p.Q659Q ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000346617.4_Silent_p.Q605Q|ZFP64_ENST00000371515.4_Silent_p.Q657Q NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 659 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TGGAGTAGGTCTGCTTGGGTA 0.547000 4 126 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26828880 26828880 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:26828880C>T ENST00000381527.3 + 1 605 c.102C>T c.(100-102)caC>caT p.H34H CDK8_ENST00000536792.1_Silent_p.H34H NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 34 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CTTATGGTCACGTCTACAAAG 0.607000 7 28 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25601128 25601128 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:25601128T>C ENST00000232165.3 - 9 2691 c.2035A>G c.(2035-2037)Ata>Gta p.I679V UBE3A_ENST00000438097.1_Missense_Mutation_p.I659V|UBE3A_ENST00000566215.1_Missense_Mutation_p.I659V|UBE3A_ENST00000428984.2_Missense_Mutation_p.I659V|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.I682V NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 682 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GTCTGTGATATCTGGAAAGTG 0.323000 7 137 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057344 72057344 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:72057344G>A ENST00000378743.3 - 1 405 c.47C>T c.(46-48)cCg>cTg p.P16L ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P16L|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P16L NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 16 RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TTCTTCCTTCGGCGAGAGGCC 0.652000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 181 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26958554 26958554 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:26958554G>A ENST00000528896.2 - 23 4316 c.4242C>T c.(4240-4242)caC>caT p.H1414H KIAA0100_ENST00000544884.1_Silent_p.H1271H|KIAA0100_ENST00000389003.3_Silent_p.H1271H NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1414 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGCTCAGCAGGTGGGTCTTTG 0.483000 6 77 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19655890 19655890 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:19655890C>T ENST00000586018.1 + 8 2656 c.2554C>T c.(2554-2556)Cgg>Tgg p.R852W CILP2_ENST00000291495.5_Missense_Mutation_p.R846W Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 846 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GGGGTACCGTCGGACGGACCA 0.706000 4 27 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87486538 87486538 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:87486538C>T ENST00000406452.3 - 10 1103 c.944G>A c.(943-945)tGa>tAa p.*315* RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000519966.1_Silent_p.*272*|RMDN1_ENST00000430676.2_Silent_p.*285* NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 GAAAAGTTCTCAATTCTTCTC 0.299000 6 95 0 0 1 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12262060 12262060 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:12262060G>T ENST00000376259.3 + 9 1026 c.937G>T c.(937-939)Ggc>Tgc p.G313C TNFRSF1B_ENST00000492361.1_3'UTR NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 313 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GGGTACACAGGGCCCCGAGCA 0.662000 3 20 1 1 1 1 0 TTN 7273 broad.mit.edu 37 2 179440352 179440352 + Missense_Mutation SNP A A C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:179440352A>C ENST00000589042.1 - 326 70731 c.70507T>G c.(70507-70509)Tgt>Ggt p.C23503G TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.C14438G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.C21862G|TTN_ENST00000359218.5_Missense_Mutation_p.C14563G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.C14630G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.C20935G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21862 Ig-like 119. 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) AAATATTCACACCCTTCAGAC 0.438000 9 72 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68160443 68160443 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:68160443G>A ENST00000349223.5 + 3 1555 c.1331G>A c.(1330-1332)cGa>cAa p.R444Q NFATC3_ENST00000346183.3_Missense_Mutation_p.R444Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.R444Q|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.R444Q NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 444 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) ACTCATCATCGAGCCCATTAT 0.443000 7 74 0 0 1 0 0 GRAMD2 196996 broad.mit.edu 37 15 72455648 72455648 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:72455648C>T ENST00000309731.7 - 10 928 c.915G>A c.(913-915)ctG>ctA p.L305L GRAMD2_ENST00000564184.1_5'UTR NM_001012642.2 NP_001012660.1 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 305 integral to membrane p.L305L(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 13 CCCAGAGCCTCAGCTCCCCAG 0.562000 6 53 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69188522 69188522 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:69188522G>A ENST00000344157.4 - 11 1881 c.1546C>T c.(1546-1548)Cag>Tag p.Q516* YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q516*|YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q498* NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 516 Arg-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 GATCGGGGCTGAGAATGCATT 0.463000 12 69 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46389235 46389235 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:46389235G>C ENST00000454345.1 + 4 996 c.871G>C c.(871-873)Gag>Cag p.E291Q DGKZ_ENST00000343674.6_Missense_Mutation_p.E119Q|DGKZ_ENST00000527911.1_Missense_Mutation_p.E102Q|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.E102Q|DGKZ_ENST00000395574.3_Missense_Mutation_p.E68Q|DGKZ_ENST00000318201.8_Missense_Mutation_p.E102Q|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.E106Q|DGKZ_ENST00000421244.2_Missense_Mutation_p.E102Q NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 291 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CATCTGGTTCGAGACCAACGT 0.657000 OREG0020942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 64 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25023891 25023891 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:25023891C>A ENST00000400382.1 + 13 2036 c.1281C>A c.(1279-1281)ccC>ccA p.P427P GGT1_ENST00000403838.1_Silent_p.P83P|GGT1_ENST00000406383.2_Silent_p.P427P|GGT1_ENST00000248923.4_Silent_p.P427P|GGT1_ENST00000404223.1_Silent_p.P83P|GGT1_ENST00000404532.1_Silent_p.P83P|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000400383.1_Silent_p.P427P|GGT1_ENST00000404920.1_Silent_p.P83P|GGT1_ENST00000401885.1_Silent_p.P83P|GGT1_ENST00000400380.1_Silent_p.P427P P19440 GGT1_HUMAN gamma-glutamyltransferase 1 427 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TCAGCTCTCCCAGCATCACCA 0.617000 12 201 2.31682e-05 2.44553e-05 1 1 0 IQSEC3 440073 broad.mit.edu 37 12 275008 275008 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:275008A>G ENST00000538872.1 + 11 3041 c.2923A>G c.(2923-2925)Aag>Gag p.K975E IQSEC3_ENST00000382841.2_Missense_Mutation_p.K672E|IQSEC3_ENST00000326261.4_Missense_Mutation_p.K975E|RP11-598F7.5_ENST00000540136.1_RNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 975 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GGAGGACCTGAAGGAGTCCAT 0.602000 11 36 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692756 135692756 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:135692756C>A ENST00000513104.1 - 2 602 c.320G>T c.(319-321)gGg>gTg p.G107V TRPC7_ENST00000426057.2_Missense_Mutation_p.G107V|TRPC7_ENST00000355180.3_Missense_Mutation_p.G107V NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 107 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGCGCGTCCCCCACCCGTGC 0.662000 5 38 0.217242 0.219044 1 1 0 VWCE 220001 broad.mit.edu 37 11 61034991 61034991 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:61034991G>C ENST00000335613.5 - 16 2294 c.1908C>G c.(1906-1908)ttC>ttG p.F636L VWCE_ENST00000535710.1_Missense_Mutation_p.F101L NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 636 VWFC 5. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CGTTGTTATAGAAGATTCTGC 0.612000 8 71 0 0 1 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43968150 43968150 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:43968150C>G ENST00000282406.4 + 21 3299 c.3189C>G c.(3187-3189)ctC>ctG p.L1063L NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1063 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGTGGCTCCTCAGGCTTCACC 0.507000 12 76 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9317766 9317766 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:9317766G>A ENST00000261336.2 - 19 2484 c.2456C>T c.(2455-2457)aCg>aTg p.T819M PZP_ENST00000381997.2_Missense_Mutation_p.T688M|PZP_ENST00000539983.1_5'UTR NM_002864.2 NP_002855.2 pregnancy-zone protein p.T819M(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 GTTTAGGACCGTGGCCTTGAG 0.493000 7 90 0 0 1 0 0 ZNF526 116115 broad.mit.edu 37 19 42728808 42728808 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:42728808G>A ENST00000301215.3 + 3 478 c.253G>A c.(253-255)Gag>Aag p.E85K NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) TGCTGTCTCAGAGGAGGAGGC 0.582000 9 55 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89775292 89775292 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:89775292C>A ENST00000561976.1 - 12 1837 c.1460G>T c.(1459-1461)gGg>gTg p.G487V VPS9D1_ENST00000389386.3_Missense_Mutation_p.G557V VPS9 domain containing 1 GGGCGGGGGCCCGGCCTGGGG 0.667000 5 19 2.7689e-08 3.00623e-08 1 1 0 LRRC2 79442 broad.mit.edu 37 3 46586552 46586552 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:46586552G>A ENST00000395905.3 - 3 709 c.317C>T c.(316-318)tCt>tTt p.S106F LRRC2_ENST00000296144.3_Missense_Mutation_p.S106F NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 106 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) GTGCTCCCCAGAAAGTTCAAA 0.537000 26 276 0 0 1 0 0 HOXB1 3211 broad.mit.edu 37 17 46607120 46607120 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:46607120C>T ENST00000239174.6 - 2 787 c.695G>A c.(694-696)cGg>cAg p.R232Q HOXB1_ENST00000577092.1_3'UTR NM_002144.3 NP_002135.2 P14653 HXB1_HUMAN homeobox B1 232 nucleus protein domain specific binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTCCACCCTCCGGGCCCGGCT 0.572000 14 172 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113267562 113267562 + Silent SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:113267562A>G ENST00000297405.5 - 62 10201 c.9957T>C c.(9955-9957)ttT>ttC p.F3319F CSMD3_ENST00000343508.3_Silent_p.F3279F|CSMD3_ENST00000352409.3_Silent_p.F3249F|CSMD3_ENST00000455883.2_Silent_p.F3150F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3319 Sushi 26. 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 ATATGAAAGGAAAATTGCAGC 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 55 0 0 1 0 0 RXRG 6258 broad.mit.edu 37 1 165380319 165380319 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:165380319C>T ENST00000359842.5 - 5 952 c.650G>A c.(649-651)cGa>cAa p.R217Q RXRG_ENST00000470566.1_5'UTR NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 217 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) AGCTCGCTCTCGGCTCCTCTG 0.493000 19 57 0 0 1 0 0 MRPL40 64976 broad.mit.edu 37 22 19422269 19422269 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:19422269C>T ENST00000333130.3 + 3 801 c.148C>T c.(148-150)Ctt>Ttt p.L50F HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR NM_003776.2 NP_003767.2 Q9NQ50 RM40_HUMAN mitochondrial ribosomal protein L40 50 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) ATCAGAACCTCTTCGAAAAAA 0.383000 3 22 0 0 1 0 0 ATG16L1 55054 broad.mit.edu 37 2 234191385 234191385 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:234191385G>A ENST00000392017.4 + 12 1446 c.1189G>A c.(1189-1191)Gat>Aat p.D397N ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D414N|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D218N|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D234N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D378N NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 397 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) GACTGTGGATGATTATCGATT 0.413000 8 75 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603863 111603863 + Silent SNP C C T rs142557577 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:111603863C>T ENST00000431670.2 + 2 1350 c.939C>T c.(937-939)ccC>ccT p.P313P PHLDB2_ENST00000393925.3_Silent_p.P313P|PHLDB2_ENST00000477695.1_Silent_p.P313P|PHLDB2_ENST00000412622.1_Silent_p.P313P|PHLDB2_ENST00000393923.3_Silent_p.P340P|PHLDB2_ENST00000481953.1_Silent_p.P313P|PHLDB2_ENST00000478922.1_Silent_p.P313P NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 313 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GGGCTTTACCCTATAAAACCT 0.448000 12 53 0 0 1 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37374916 37374916 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:37374916C>G ENST00000233057.4 - 3 356 c.34G>C c.(34-36)Gag>Cag p.E12Q EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E12Q|EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E12Q NM_001135651.2 NP_001129123.1 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha kinase 2 12 DRBM 1. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1) 22 all_hematologic(82;0.248) TTAAGTTCCTCCATGAAGAAA 0.398000 16 127 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46712990 46712990 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:46712990G>A ENST00000318962.4 - 25 2852 c.2769C>T c.(2767-2769)ctC>ctT p.L923L ALS2CL_ENST00000415953.1_Silent_p.L923L|ALS2CL_ENST00000383742.3_Silent_p.L270L NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 923 VPS9. endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CCAGGGCTGTGAGCAGGAAGT 0.592000 5 68 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27728699 27728699 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:27728699C>T ENST00000264717.2 + 10 928 c.865C>T c.(865-867)Caa>Taa p.Q289* GCKR_ENST00000424318.2_Nonsense_Mutation_p.Q99* NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 289 carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TGCAGCATCTCAAAGGTAGGG 0.537000 9 114 0 0 1 0 0 ASRGL1 80150 broad.mit.edu 37 11 62124476 62124476 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:62124476G>C ENST00000415229.2 + 4 566 c.351G>C c.(349-351)ctG>ctC p.L117L ASRGL1_ENST00000301776.5_Silent_p.L117L|ASRGL1_ENST00000535727.1_5'UTR NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 117 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) ATTGCTTTCTGACTGACCAAG 0.398000 3 61 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149245664 149245664 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:149245664C>T ENST00000465804.1 - 6 1120 c.864G>A c.(862-864)atG>atA p.M288I WWTR1_ENST00000360632.3_Missense_Mutation_p.M288I|WWTR1_ENST00000467467.1_Missense_Mutation_p.M288I NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 288 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity p.M288I(1) breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TGATGGATCTCATGTCTGGGG 0.463000 T CAMTA1 epitheliod hemangioendothelioma 14 201 0 0 1 0 0 PARP8 79668 broad.mit.edu 37 5 49963917 49963917 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:49963917C>T ENST00000281631.5 + 2 262 c.104C>T c.(103-105)tCt>tTt p.S35F PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.S35F|PARP8_ENST00000513738.1_Missense_Mutation_p.S35F|PARP8_ENST00000505554.1_Missense_Mutation_p.S14F|PARP8_ENST00000514067.2_Missense_Mutation_p.S35F|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503665.1_Missense_Mutation_p.S35F|PARP8_ENST00000505697.2_Missense_Mutation_p.S35F NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 35 intracellular NAD+ ADP-ribosyltransferase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TTCAGATACTCTGACTCCACC 0.453000 6 86 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466276 56466276 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:56466276C>G ENST00000291971.3 + 3 923 c.852C>G c.(850-852)ctC>ctG p.L284L NLRP8_ENST00000590542.1_Silent_p.L284L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 284 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTCTGCTGCTCTTGGATGGCT 0.522000 26 183 0 0 1 0 0 FFAR2 2867 broad.mit.edu 37 19 35940649 35940649 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:35940649C>T ENST00000599180.2 + 2 113 c.33C>T c.(31-33)ctC>ctT p.L11L FFAR2_ENST00000246549.2_Silent_p.L11L|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTTGATCCTCATGGCTTACA 0.637000 7 105 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139826545 139826545 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:139826545G>C ENST00000397560.2 - 6 877 c.780C>G c.(778-780)gtC>gtG p.V260V JHDM1D_ENST00000006967.5_Silent_p.V260V NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 260 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) GCTTGGGAAAGACTGAATCAT 0.403000 13 84 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139160802 139160802 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:139160802C>T ENST00000395297.1 - 14 3579 c.3409G>A c.(3409-3411)Gat>Aat p.D1137N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1137 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAATTCCATCTTCCAAATTT 0.358000 HNSCC(54;0.14) 11 86 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27436152 27436152 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:27436152G>A ENST00000295736.5 - 20 3017 c.2947C>T c.(2947-2949)Cat>Tat p.H983Y SLC4A7_ENST00000437179.1_Missense_Mutation_p.H864Y|SLC4A7_ENST00000440156.1_Missense_Mutation_p.H979Y|SLC4A7_ENST00000428386.1_Missense_Mutation_p.H859Y|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.H975Y|SLC4A7_ENST00000435667.2_Missense_Mutation_p.H868Y|SLC4A7_ENST00000454389.1_Missense_Mutation_p.H992Y|SLC4A7_ENST00000455077.1_Missense_Mutation_p.H864Y|SLC4A7_ENST00000445684.1_Missense_Mutation_p.H979Y|SLC4A7_ENST00000388777.4_Missense_Mutation_p.H533Y NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 983 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 CTGTTGACATGACTTATTGAC 0.443000 19 77 0 0 1 0 0 MIA-RAB4B 100529262 broad.mit.edu 37 19 41281508 41281508 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:41281508G>A ENST00000600729.1 + 2 483 c.61G>A c.(61-63)Ggt>Agt p.G21S MIA_ENST00000597784.1_Missense_Mutation_p.G21S|MIA_ENST00000594436.1_Missense_Mutation_p.G21S|MIA_ENST00000263369.3_Missense_Mutation_p.G21S CTCCGGACCTGGTGTCAGGGG 0.622000 8 194 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279914 46279914 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:46279914C>T ENST00000372004.3 + 20 4044 c.3828C>T c.(3826-3828)ttC>ttT p.F1276F NCOA3_ENST00000371998.3_Silent_p.F1280F|NCOA3_ENST00000371997.3_Silent_p.F1271F|NCOA3_ENST00000341724.6_Silent_p.F1206F NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1280 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CCCAGGCCTTCAGCCCACCTC 0.567000 4 61 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131487836 131487836 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:131487836C>A ENST00000261654.5 + 10 1692 c.1133C>A c.(1132-1134)tCt>tAt p.S378Y GPR133_ENST00000535015.1_Missense_Mutation_p.S410Y|GPR133_ENST00000376682.4_Missense_Mutation_p.S64Y NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 378 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GAGGGCTCCTCTGCCATGGCA 0.602000 4 44 0.00116845 0.00120206 1 1 0 PTX3 5806 broad.mit.edu 37 3 157160451 157160451 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:157160451G>A ENST00000295927.3 + 3 974 c.829G>A c.(829-831)Gag>Aag p.E277K VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron NM_002852.3 NP_002843.2 P26022 PTX3_HUMAN pentraxin 3, long 277 Pentaxin. inflammatory response extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1) 10 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTGGAATTCAGAGGAAGGGCT 0.537000 3 71 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159035904 159035904 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:159035904C>G ENST00000368130.4 - 4 900 c.612G>C c.(610-612)aaG>aaC p.K204N NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 204 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) TAATTATTCTCTTTGGAATGA 0.358000 11 81 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134851765 134851765 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:134851765G>T ENST00000398015.3 + 5 1541 c.1171G>T c.(1171-1173)Gtc>Ttc p.V391F EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 391 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GGAGTGCCGCGTCTCCATCAG 0.622000 7 39 5.18039e-06 5.52575e-06 1 1 0 CLEC18C 283971 broad.mit.edu 37 16 70208893 70208893 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:70208893C>T ENST00000569347.2 + 2 422 c.168C>T c.(166-168)aaC>aaT p.N56N CLEC18C_ENST00000541793.2_Silent_p.N56N|CLEC18C_ENST00000314151.8_Silent_p.N56N|CLEC18C_ENST00000561612.1_3'UTR|CLEC18C_ENST00000536907.2_Silent_p.N56N NM_173619.2 NP_775890.2 C-type lectin domain family 18, member C endometrium(3)|large_intestine(6)|lung(1) 10 CCCTGCACAACCGCCTGCGCA 0.677000 5 66 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97174257 97174257 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:97174257C>T ENST00000371247.2 - 9 993 c.804G>A c.(802-804)tcG>tcA p.S268S SORBS1_ENST00000361941.3_Silent_p.S268S|SORBS1_ENST00000393949.1_Silent_p.S259S|SORBS1_ENST00000353505.5_Silent_p.S199S|SORBS1_ENST00000371246.2_Silent_p.S268S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Silent_p.S199S|SORBS1_ENST00000371249.2_Silent_p.S236S|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Silent_p.S268S|SORBS1_ENST00000354106.3_Silent_p.S259S|SORBS1_ENST00000277982.5_Silent_p.S268S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 268 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TTACGGTACTCGAAACAGCTC 0.602000 10 63 0 0 1 0 0 TTC9 23508 broad.mit.edu 37 14 71137851 71137851 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:71137851G>A ENST00000256367.2 + 3 991 c.648G>A c.(646-648)caG>caA p.Q216Q NM_015351.1 NP_056166.1 Q92623 TTC9A_HUMAN tetratricopeptide repeat domain 9 216 binding skin(1) 1 all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538) GATGCTCCCAGAGAGAAAAAG 0.567000 6 37 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216500943 216500943 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:216500943G>T ENST00000366943.2 - 5 1224 c.838C>A c.(838-840)Ctt>Att p.L280I USH2A_ENST00000366942.3_Missense_Mutation_p.L280I|USH2A_ENST00000307340.3_Missense_Mutation_p.L280I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 280 Laminin N-terminal. L -> F (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTTTGTAAGTGCCACTTGG 0.343000 HNSCC(13;0.011) 11 109 0.00010058 0.000105254 1 1 0 CLDN25 644672 broad.mit.edu 37 11 113650727 113650727 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:113650727C>G ENST00000453129.2 + 1 259 c.210C>G c.(208-210)ttC>ttG p.F70L NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 70 integral to membrane|tight junction structural molecule activity large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 TTGAATCCTTCTTGTCTCTGC 0.562000 8 90 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105509412 105509412 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:105509412G>A ENST00000276654.5 - 5 1476 c.1368C>T c.(1366-1368)ttC>ttT p.F456F LRP12_ENST00000424843.2_Silent_p.F437F NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 456 LDL-receptor class A 5. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTTTACAATGGAAATTTCCTG 0.418000 15 102 0 0 1 0 0 PRR23A 729627 broad.mit.edu 37 3 138724624 138724624 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:138724624C>T ENST00000383163.2 - 1 486 c.487G>A c.(487-489)Gag>Aag p.E163K NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 163 endometrium(3)|kidney(1)|lung(7) 11 TCCGGAAACTCGGGGTCCGCG 0.657000 4 20 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85638082 85638082 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:85638082G>C ENST00000322366.6 - 48 8198 c.7791C>G c.(7789-7791)atC>atG p.I2597M WDFY3_ENST00000295888.4_Missense_Mutation_p.I2614M Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2614 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GAACTTCCTTGATATCTTCAT 0.368000 27 117 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155157962 155157962 + Silent SNP G G T rs138701263 byFrequency TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:155157962G>T ENST00000357232.4 - 25 6476 c.6477C>A c.(6475-6477)gtC>gtA p.V2159V NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 19. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAAGATAACCGACTTGCTTAT 0.403000 8 53 0.000442599 0.000457654 1 1 0 EXOC6 54536 broad.mit.edu 37 10 94733956 94733956 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:94733956G>A ENST00000371552.4 + 18 1934 c.1905G>A c.(1903-1905)ttG>ttA p.L635L EXOC6_ENST00000371547.4_Silent_p.L656L|EXOC6_ENST00000443748.2_Silent_p.L537L|EXOC6_ENST00000260762.6_Silent_p.L640L NM_001013848.2 NP_001013870.1 Q8TAG9 EXOC6_HUMAN exocyst complex component 6 640 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TAAATTTTTTGAGAAGCATCT 0.284000 5 56 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3824047 3824047 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:3824047C>G ENST00000497571.1 - 2 722 c.462G>C c.(460-462)ctG>ctC p.L154L KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Silent_p.L154L|KLF6_ENST00000469435.1_Silent_p.L154L NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 154 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) GTTCCCTGCTCAGTTCCGGAG 0.612000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 73 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82833887 82833887 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:82833887A>G ENST00000265077.3 + 8 5630 c.5065A>G c.(5065-5067)Att>Gtt p.I1689V VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.I702V|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1689 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGCAACCACCATTTATCCAGT 0.398000 14 72 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22952087 22952087 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:22952087G>C ENST00000397104.3 - 2 105 c.106C>G c.(106-108)Ctg>Gtg p.L36V ZNF99_ENST00000596209.1_Missense_Mutation_p.L15V zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACTCCTCCAGAGCGAATTCT 0.403000 11 99 0 0 1 0 0 RECQL 5965 broad.mit.edu 37 12 21624538 21624538 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:21624538G>A ENST00000444129.2 - 13 1959 c.1491C>T c.(1489-1491)atC>atT p.I497I RECQL_ENST00000421138.2_Silent_p.I497I NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 497 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TCAGGATCTTGATTAGATCTC 0.383000 Other identified genes with known or suspected DNA repair function 5 89 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90149230 90149230 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:90149230G>A ENST00000405460.2 + 80 17430 c.17334G>A c.(17332-17334)ctG>ctA p.L5778L GPR98_ENST00000425867.2_Silent_p.L1439L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5778 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGAGGCTACTGGATGTCCAGG 0.398000 4 24 0 0 1 0 0 HSD3B7 80270 broad.mit.edu 37 16 30998197 30998197 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:30998197C>T ENST00000297679.5 + 6 661 c.568C>T c.(568-570)Cgt>Tgt p.R190C HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron NM_025193.3 NP_079469.2 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 190 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GTGTGCCCTTCGTCCCACGGG 0.682000 4 49 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34671692 34671692 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:34671692C>T ENST00000374789.3 - 9 1500 c.1175G>A c.(1174-1176)aGg>aAg p.R392K PARD3_ENST00000374788.3_Missense_Mutation_p.R392K|PARD3_ENST00000545260.1_Missense_Mutation_p.R348K|PARD3_ENST00000374776.1_Missense_Mutation_p.R392K|PARD3_ENST00000544292.1_Missense_Mutation_p.R122K|PARD3_ENST00000350537.4_Missense_Mutation_p.R392K|PARD3_ENST00000545693.1_Missense_Mutation_p.R392K|PARD3_ENST00000374790.3_Missense_Mutation_p.R348K|PARD3_ENST00000340077.5_Missense_Mutation_p.R392K|PARD3_ENST00000374794.3_Missense_Mutation_p.R348K|PARD3_ENST00000374773.1_Missense_Mutation_p.R392K|PARD3_ENST00000346874.4_Missense_Mutation_p.R392K NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 392 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GTTCACACTCCTGTTGTCAAT 0.488000 10 75 0 0 1 0 0 PPFIA1 8500 broad.mit.edu 37 11 70202353 70202353 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:70202353C>T ENST00000253925.7 + 19 2790 c.2575C>T c.(2575-2577)Caa>Taa p.Q859* PPFIA1_ENST00000389547.3_Nonsense_Mutation_p.Q859*|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 859 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TCGTAAACTTCAAAAAAAGTA 0.393000 5 82 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20828213 20828213 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:20828213G>A ENST00000291750.6 - 4 417 c.268C>T c.(268-270)Cat>Tat p.H90Y CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000601440.1_Intron NM_145297.3 NP_660340.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 0 S -> N (in dbSNP:rs8110802). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 tatatgtcatgaagaggactt 0.378000 4 55 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940900 144940900 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144940900G>C ENST00000525985.1 - 2 6593 c.6522C>G c.(6520-6522)ttC>ttG p.F2174L P58107 EPIPL_HUMAN epiplakin 1 2174 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TAATTCCTTGGAACCACAGGT 0.527000 19 166 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72285872 72285872 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:72285872C>T ENST00000579490.1 + 4 913 c.778C>T c.(778-780)Ctg>Ttg p.L260L DNAI2_ENST00000307504.5_Silent_p.L60L|DNAI2_ENST00000446837.2_Silent_p.L203L|DNAI2_ENST00000582036.1_Silent_p.L203L|DNAI2_ENST00000311014.6_Silent_p.L203L Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 203 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CATCTGGGACCTGGGTGAGAA 0.627000 Kartagener syndrome 10 56 0 0 1 0 0 PCMTD2 55251 broad.mit.edu 37 20 62896743 62896743 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:62896743C>T ENST00000308824.6 + 4 670 c.543C>T c.(541-543)ctC>ctT p.L181L PCMTD2_ENST00000369758.4_Silent_p.L181L|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Silent_p.L181L NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 181 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGAATCTTCTCAAAGTGGGAG 0.483000 8 107 0 0 1 0 0 NRBP2 340371 broad.mit.edu 37 8 144921577 144921577 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144921577G>C ENST00000442628.2 - 6 628 c.489C>G c.(487-489)ttC>ttG p.F163L NRBP2_ENST00000327830.5_5'UTR NM_178564.3 NP_848659.2 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 163 Protein kinase. negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2)|kidney(1)|large_intestine(2) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGGCGTGCAGGAAGCTGCAGA 0.667000 5 10 0 0 1 0 0 ZMAT3 64393 broad.mit.edu 37 3 178742989 178742989 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:178742989C>A ENST00000311417.2 - 6 1427 c.686G>T c.(685-687)cGg>cTg p.R229L ZMAT3_ENST00000432729.1_Missense_Mutation_p.R228L NM_022470.3 NP_071915.1 Q9HA38 ZMAT3_HUMAN zinc finger, matrin-type 3 229 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1) 14 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) AATTCTCTGCCGAGAGCGGGG 0.418000 4 22 0.00024832 0.000258083 1 1 0 CISH 1154 broad.mit.edu 37 3 50645378 50645378 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:50645378G>A ENST00000443053.2 - 4 715 c.488C>T c.(487-489)tCc>tTc p.S163F CISH_ENST00000348721.3_Missense_Mutation_p.S146F NM_013324.5 NP_037456.5 Q9NSE2 CISH_HUMAN cytokine inducible SH2-containing protein 146 SH2. intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth intracellular breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GCGTGGCCTGGACAAGCAGTT 0.582000 3 44 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718202 142718202 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:142718202G>T ENST00000381779.4 - 2 948 c.723C>A c.(721-723)atC>atA p.I241I SLITRK4_ENST00000356928.1_Silent_p.I241I|SLITRK4_ENST00000338017.4_Silent_p.I241I NM_001184749.2|NM_001184750.1|NM_173078.4 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 241 LRRCT 1. integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTTCACAGATAGCTTCTC 0.433000 7 18 1.12685e-05 1.1936e-05 1 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120298895 120298895 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:120298895C>G ENST00000397843.2 + 8 690 c.524C>G c.(523-525)tCt>tGt p.S175C ARHGEF12_ENST00000356641.3_Missense_Mutation_p.S156C|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.S72C NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 175 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) ATCATGACATCTCCTCATTCA 0.498000 T MLL AML 16 156 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47155366 47155366 + Splice_Site SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:47155366G>A ENST00000409792.3 - 5 4757 c.4715C>T c.(4714-4716)tCg>tTg p.S1572L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1572 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AAGAACTTACGAAGGAAGGTC 0.448000 """N, F, S, Mis""" clear cell renal carcinoma 3 56 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152702384 152702384 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:152702384C>G ENST00000367255.5 - 56 9367 c.8766G>C c.(8764-8766)gaG>gaC p.E2922D SYNE1_ENST00000423061.1_Missense_Mutation_p.E2929D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2929D|SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2961D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2922D NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2922 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGGCCTGCATCTCCGTGTGCA 0.577000 HNSCC(10;0.0054) 11 146 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16071318 16071318 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:16071318C>T ENST00000352083.6 - 11 1495 c.1418G>A c.(1417-1419)gGa>gAa p.G473E SOX6_ENST00000396356.3_Missense_Mutation_p.G473E|SOX6_ENST00000527619.1_Missense_Mutation_p.G435E|SOX6_ENST00000528252.1_Missense_Mutation_p.G432E|SOX6_ENST00000528429.1_Missense_Mutation_p.G473E|SOX6_ENST00000316399.6_Missense_Mutation_p.G473E P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 473 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 GGATCCTCTTCCCAGGCTTCC 0.473000 19 199 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22627716 22627716 + Nonsense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:22627716G>C ENST00000333957.4 - 16 2267 c.2012C>G c.(2011-2013)tCa>tGa p.S671* C2CD5_ENST00000542676.1_Nonsense_Mutation_p.S671*|C2CD5_ENST00000396028.2_Nonsense_Mutation_p.S662*|C2CD5_ENST00000446597.1_Nonsense_Mutation_p.S671*|C2CD5_ENST00000544930.1_Nonsense_Mutation_p.S486*|C2CD5_ENST00000545552.1_Nonsense_Mutation_p.S684*|C2CD5_ENST00000536386.1_Nonsense_Mutation_p.S673* NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TTTCCCATGTGAAAGGTCTAA 0.383000 9 98 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141044642 141044642 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:141044642G>A ENST00000239440.4 - 19 2712 c.2647C>T c.(2647-2649)Ctg>Ttg p.L883L ARAP3_ENST00000508305.1_Silent_p.L785L|ARAP3_ENST00000513878.1_Silent_p.L545L|ARAP3_ENST00000512390.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 883 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCTCCTTGCAGATACAGGGTC 0.667000 OREG0016871 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 17 0 0 1 0 0 FZD6 8323 broad.mit.edu 37 8 104337008 104337008 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:104337008G>C ENST00000358755.4 + 4 991 c.674G>C c.(673-675)aGa>aCa p.R225T FZD6_ENST00000522566.1_Missense_Mutation_p.R225T|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000523739.1_Missense_Mutation_p.R193T NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 225 angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.R225K(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) ATTGATGTTAGAAGATTCAGA 0.333000 6 47 0 0 1 0 0 CHFR 55743 broad.mit.edu 37 12 133433092 133433092 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:133433092C>A ENST00000266880.7 - 11 1290 c.1227G>T c.(1225-1227)ctG>ctT p.L409L CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Silent_p.L409L|CHFR_ENST00000450056.2_Silent_p.L397L|CHFR_ENST00000537522.1_Silent_p.L31L|CHFR_ENST00000443047.2_Silent_p.L317L|CHFR_ENST00000315585.7_Silent_p.L368L Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 409 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) CTGACAGCTCCAGCAGGTCCT 0.502000 30 101 2.65835e-16 2.94403e-16 1 1 0 USP32 84669 broad.mit.edu 37 17 58313541 58313541 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:58313541G>A ENST00000300896.4 - 12 1391 c.1197C>T c.(1195-1197)atC>atT p.I399I USP32_ENST00000592339.1_Silent_p.I69I NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 399 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ACTGCATGGAGATGATAAACC 0.393000 8 172 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15813524 15813524 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:15813524G>A ENST00000452625.2 - 36 5108 c.5021C>T c.(5020-5022)tCc>tTc p.S1674F MYH11_ENST00000576790.2_Missense_Mutation_p.S1667F|MYH11_ENST00000300036.5_Missense_Mutation_p.S1667F|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.S1674F NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1667 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CTCATCTCTGGAGGCACGGGC 0.507000 T CBFB AML 9 96 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4859247 4859247 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:4859247C>T ENST00000323997.6 + 9 1008 c.876C>T c.(874-876)atC>atT p.I292I ENO3_ENST00000519584.1_Silent_p.I249I|ENO3_ENST00000518175.1_Silent_p.I292I NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 292 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 TGGTCTCCATCGAAGACCCCT 0.582000 29 234 0 0 1 0 0 GKN2 200504 broad.mit.edu 37 2 69173523 69173523 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:69173523C>T ENST00000481498.1 - 5 403 c.385G>A c.(385-387)Gac>Aac p.D129N GKN2_ENST00000328895.4_Missense_Mutation_p.D129N Q86XP6 GKN2_HUMAN gastrokine 2 129 BRICHOS. extracellular region p.D129Y(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 CAATCCACGTCTTTGATCAGA 0.443000 11 207 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8696958 8696958 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:8696958G>C ENST00000378641.3 + 13 1773 c.1298G>C c.(1297-1299)gGg>gCg p.G433A PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.G433A|PLCB1_ENST00000378637.2_Missense_Mutation_p.G433A NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 433 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTGATCTTTGGGGATGCCCTT 0.468000 8 40 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198948543 198948543 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:198948543C>T ENST00000428675.1 + 2 700 c.302C>T c.(301-303)tCg>tTg p.S101L PLCL1_ENST00000437704.2_Missense_Mutation_p.S3L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 101 Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AGCATGCCATCGGAAAAGAAA 0.383000 6 47 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144992989 144992989 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144992989C>A ENST00000322810.4 - 32 11580 c.11411G>T c.(11410-11412)cGg>cTg p.R3804L PLEC_ENST00000354589.3_Missense_Mutation_p.R3667L|PLEC_ENST00000354958.2_Missense_Mutation_p.R3645L|PLEC_ENST00000345136.3_Missense_Mutation_p.R3667L|PLEC_ENST00000356346.3_Missense_Mutation_p.R3653L|PLEC_ENST00000527096.1_Missense_Mutation_p.R3690L|PLEC_ENST00000398774.2_Missense_Mutation_p.R3635L|PLEC_ENST00000357649.2_Missense_Mutation_p.R3671L|PLEC_ENST00000436759.2_Missense_Mutation_p.R3694L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3804 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGTGCCCTCCCGGAGCAGGTT 0.667000 5 30 0.0215528 0.0218766 1 1 0 SLC16A1 6566 broad.mit.edu 37 1 113459918 113459918 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:113459918G>C ENST00000538576.1 - 4 1941 c.1110C>G c.(1108-1110)ctC>ctG p.L370L SLC16A1_ENST00000369626.3_Silent_p.L370L|SLC16A1_ENST00000433570.4_Silent_p.L370L NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 370 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) ATACGGAGCTGAGCCACCCGA 0.488000 3 51 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22929848 22929848 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:22929848G>A ENST00000313077.7 + 6 647 c.522G>A c.(520-522)ctG>ctA p.L174L CYFIP1_ENST00000560848.1_Silent_p.L174L NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 174 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TGGACGAGCTGAAGAACATGA 0.582000 7 54 0 0 1 0 0 MRPL4 51073 broad.mit.edu 37 19 10369342 10369342 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:10369342C>T ENST00000393733.2 + 8 747 c.720C>T c.(718-720)ttC>ttT p.F240F MRPL4_ENST00000307422.5_Silent_p.F240F|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000590669.1_Silent_p.F240F|MRPL4_ENST00000253099.6_Silent_p.F240F Q9BYD3 RM04_HUMAN mitochondrial ribosomal protein L4 240 translation mitochondrion|ribosome structural constituent of ribosome breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 Renal(1328;0.0112) OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06) Lung(535;0.00705) TTAAGACCTTCAACTTGATCC 0.567000 7 95 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6458367 6458367 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:6458367G>A ENST00000358945.3 - 10 1966 c.1526C>T c.(1525-1527)tCt>tTt p.S509F SCNN1A_ENST00000228916.2_Missense_Mutation_p.S487F|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S187F|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S546F|SCNN1A_ENST00000396966.2_Intron|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S510F P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 487 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GTAACCAGCAGAGAGCTGGTA 0.572000 15 164 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71339777 71339777 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:71339777G>A ENST00000413702.1 + 3 327 c.39G>A c.(37-39)ctG>ctA p.L13L MUC7_ENST00000456088.1_Silent_p.L13L|MUC7_ENST00000304887.5_Silent_p.L13L|MUC7_ENST00000514512.1_Intron NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 13 extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) TCTGTGCACTGAGTGCTTGCT 0.373000 9 68 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46390673 46390673 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:46390673G>A ENST00000507460.1 - 2 383 c.51C>T c.(49-51)ttC>ttT p.F17F GABRA2_ENST00000515082.1_Silent_p.F17F|GABRA2_ENST00000514090.1_Silent_p.F17F|GABRA2_ENST00000510861.1_Silent_p.F17F|GABRA2_ENST00000381620.4_Silent_p.F17F|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000507069.1_Silent_p.F17F|GABRA2_ENST00000356504.1_Silent_p.F17F P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 17 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCCACACCAAGAAAACAAAAA 0.363000 9 120 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20138060 20138060 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:20138060G>A ENST00000345530.3 - 19 2177 c.2062C>T c.(2062-2064)Cag>Tag p.Q688* WDR35_ENST00000281405.4_Nonsense_Mutation_p.Q677*|WDR35_ENST00000416055.2_Nonsense_Mutation_p.Q253* NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 688 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTATGAACTGAGATGCATCT 0.418000 5 99 0 0 1 0 0 NOX4 50507 broad.mit.edu 37 11 89223638 89223638 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:89223638G>C ENST00000535633.1 - 2 379 c.69C>G c.(67-69)caC>caG p.H23Q NOX4_ENST00000393282.2_Missense_Mutation_p.H47Q|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000343727.5_Missense_Mutation_p.H23Q|NOX4_ENST00000534731.1_Missense_Mutation_p.H47Q|NOX4_ENST00000525196.1_Missense_Mutation_p.H47Q|NOX4_ENST00000413594.2_Missense_Mutation_p.H68Q|NOX4_ENST00000263317.4_Missense_Mutation_p.H47Q|NOX4_ENST00000375979.3_Missense_Mutation_p.H47Q|NOX4_ENST00000527956.1_Missense_Mutation_p.H23Q|NOX4_ENST00000532825.1_Missense_Mutation_p.H23Q|NOX4_ENST00000531342.1_Missense_Mutation_p.H47Q|NOX4_ENST00000528341.1_Intron|NOX4_ENST00000424319.1_Missense_Mutation_p.H23Q|NOX4_ENST00000542487.1_Missense_Mutation_p.H23Q NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 47 cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CCAACATCTGGTGGAGGTAGT 0.438000 10 93 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81609311 81609311 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:81609311G>C ENST00000541158.2 + 11 1231 c.909G>C c.(907-909)gaG>gaC p.E303D RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.E303D P16473 TSHR_HUMAN thyroid stimulating hormone receptor 303 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.E303E(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TGTGTAATGAGAGCAGTATGC 0.502000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 6 92 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720046 140720046 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140720046C>G ENST00000394576.2 + 1 1508 c.1508C>G c.(1507-1509)tCt>tGt p.S503C PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 p.S503F(2) breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTTATCCTCTTACATCTCT 0.522000 6 57 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104136749 104136749 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:104136749G>C ENST00000369983.3 + 33 4603 c.4343G>C c.(4342-4344)cGc>cCc p.R1448P NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1448 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AAAGGGAACCGCTTCAAGAAG 0.517000 12 96 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49114384 49114384 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:49114384G>A ENST00000395443.2 - 2 539 c.67C>T c.(67-69)Ccg>Tcg p.P23S QRICH1_ENST00000357496.2_Missense_Mutation_p.P23S|QRICH1_ENST00000424300.1_Missense_Mutation_p.P23S NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 23 CARD. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CTGTGTTGCGGGACAGACCGT 0.488000 3 139 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60545102 60545102 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:60545102G>T ENST00000400324.4 - 16 2063 c.1843C>A c.(1843-1845)Ccc>Acc p.P615T DIAPH3_ENST00000400319.1_Missense_Mutation_p.P545T|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P615T|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P615T|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P569T|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P604T NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 615 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AATCCCAGGGGAGGTGGTGGA 0.542000 40 113 6.31075e-24 7.02736e-24 1 1 0 SLC25A47 283600 broad.mit.edu 37 14 100795964 100795964 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:100795964C>T ENST00000361529.3 + 6 987 c.909C>T c.(907-909)gcC>gcT p.A303A SLC25A47_ENST00000557052.1_Silent_p.A157A NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 303 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 TGAGGCTCGCCCGGGGTCTGC 0.652000 24 110 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56215782 56215782 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:56215782C>G ENST00000357606.3 - 8 2377 c.2088G>C c.(2086-2088)gtG>gtC p.V696V DNAJC14_ENST00000317269.3_Silent_p.V696V|RP11-762I7.5_ENST00000546837.1_Intron|DNAJC14_ENST00000317287.5_Silent_p.V696V|RP11-762I7.5_ENST00000552719.1_Intron Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 696 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 AGGGCCTCCTCACTTTCTTCC 0.542000 14 128 0 0 1 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475294 140475294 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140475294A>G ENST00000194155.4 + 1 1068 c.920A>G c.(919-921)cAg>cGg p.Q307R NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 307 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTTTAAGACAGAAACTGGAT 0.413000 7 66 0 0 1 0 0 FUCA2 2519 broad.mit.edu 37 6 143828485 143828485 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:143828485C>T ENST00000002165.6 - 2 356 c.301G>A c.(301-303)Gaa>Aaa p.E101K FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Missense_Mutation_p.E101K NM_032020.4 NP_114409.2 Q9BTY2 FUCO2_HUMAN fucosidase, alpha-L- 2, plasma fucose metabolic process extracellular region alpha-L-fucosidase activity|cation binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142) CCAAAATCTTCATATTTGAAA 0.373000 8 128 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81552159 81552159 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr15:81552159C>A ENST00000394660.2 + 3 719 c.359C>A c.(358-360)gCa>gAa p.A120E IL16_ENST00000302987.4_Missense_Mutation_p.A120E NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 120 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.A120E(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 AAACTAGAAGCACAAAGTAGT 0.443000 11 53 9.31168e-06 9.89773e-06 1 1 0 PGPEP1 54858 broad.mit.edu 37 19 18466806 18466806 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:18466806G>C ENST00000269919.6 + 3 284 c.189G>C c.(187-189)gaG>gaC p.E63D PGPEP1_ENST00000595066.1_Missense_Mutation_p.E63D|PGPEP1_ENST00000604499.2_Missense_Mutation_p.E63D|PGPEP1_ENST00000597431.2_Missense_Mutation_p.E63D|PGPEP1_ENST00000252813.5_5'UTR NM_017712.2 NP_060182.1 Q9NXJ5 PGPI_HUMAN pyroglutamyl-peptidase I cysteine-type peptidase activity CCCTGTGGGAGAAGCACAGTC 0.567000 5 100 0 0 1 0 0 AQP10 89872 broad.mit.edu 37 1 154296214 154296214 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:154296214C>T ENST00000484864.1 + 5 675 c.639C>T c.(637-639)ctC>ctT p.L213L AQP10_ENST00000324978.3_Silent_p.L213L|AQP10_ENST00000355197.4_3'UTR Q96PS8 AQP10_HUMAN aquaporin 10 213 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGATTCCACTCAACCCTGCCC 0.642000 6 71 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14798893 14798893 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:14798893G>A ENST00000253697.3 + 13 2408 c.1956G>A c.(1954-1956)gaG>gaA p.E652E C3orf20_ENST00000435614.1_Silent_p.E530E|C3orf20_ENST00000412910.1_Silent_p.E530E NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 652 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGGCCCGCGAGGGGCGCAGCC 0.667000 3 13 0 0 1 0 0 OSBP 5007 broad.mit.edu 37 11 59344488 59344488 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:59344488C>T ENST00000263847.1 - 13 2550 c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 691 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TACATGTTTTCTGCATTCTTC 0.463000 3 65 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108357148 108357148 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:108357148C>T ENST00000263054.6 - 24 3233 c.3226G>A c.(3226-3228)Gga>Aga p.G1076R SORCS1_ENST00000369698.1_Missense_Mutation_p.G611R|SORCS1_ENST00000344440.6_Missense_Mutation_p.G1076R NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1076 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ACTCGGACTCCTGGCTTCAGC 0.502000 3 69 0 0 1 0 0 WRNIP1 56897 broad.mit.edu 37 6 2769089 2769089 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:2769089G>A ENST00000380769.4 + 2 558 c.327G>A c.(325-327)gaG>gaA p.E109E WRNIP1_ENST00000380771.4_Silent_p.E329E|WRNIP1_ENST00000380764.1_5'UTR|WRNIP1_ENST00000380773.4_Silent_p.E329E Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 329 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TTATTGATGAGATTCATCGGT 0.343000 5 30 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135197564 135197564 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:135197564C>T ENST00000278060.5 + 4 1052 c.969C>T c.(967-969)atC>atT p.I323I PAOX_ENST00000480071.2_Intron|PAOX_ENST00000357296.3_Silent_p.I323I|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 461 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ACAACAAAATCTTCCTGGAGT 0.557000 4 56 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380651 114380651 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:114380651C>T ENST00000359785.5 - 13 1506 c.1371G>A c.(1369-1371)caG>caA p.Q457Q PTPN22_ENST00000538253.1_Silent_p.Q213Q|PTPN22_ENST00000525799.1_Silent_p.Q330Q|PTPN22_ENST00000528414.1_Silent_p.Q402Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.Q457Q NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 457 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGTTTCTCTCTGCTGTATCA 0.373000 8 90 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97096846 97096846 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:97096846G>A ENST00000371247.2 - 30 3260 c.3071C>T c.(3070-3072)tCa>tTa p.S1024L SORBS1_ENST00000361941.3_Missense_Mutation_p.S1024L|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.S978L|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 1024 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GGCCCTTGGTGACAAGGCGAG 0.607000 11 26 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116973277 116973277 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:116973277C>A ENST00000356083.3 + 12 2729 c.2338C>A c.(2338-2340)Cct>Act p.P780T NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 780 Collagen-like 3.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCCTGGCGTTCCTGGCAAGAG 0.642000 5 92 0.307466 0.309502 1 1 0 ATN1 1822 broad.mit.edu 37 12 7044738 7044738 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:7044738C>G ENST00000356654.4 + 5 545 c.308C>G c.(307-309)tCc>tGc p.S103C ATN1_ENST00000396684.2_Missense_Mutation_p.S103C NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 103 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 CAGTCTCCCTCCGATCTGGAT 0.532000 10 30 0 0 1 0 0 PTPN22 26191 broad.mit.edu 37 1 114380755 114380755 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:114380755C>G ENST00000359785.5 - 13 1402 c.1267G>C c.(1267-1269)Gag>Cag p.E423Q PTPN22_ENST00000538253.1_Missense_Mutation_p.E179Q|PTPN22_ENST00000525799.1_Missense_Mutation_p.E296Q|PTPN22_ENST00000528414.1_Missense_Mutation_p.E368Q|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.E423Q NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 423 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAACATCCCTCAAACAAAAGA 0.388000 5 63 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112512903 112512903 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:112512903C>G ENST00000230538.7 - 6 1050 c.653G>C c.(652-654)gGa>gCa p.G218A LAMA4_ENST00000389463.4_Missense_Mutation_p.G218A|LAMA4_ENST00000424408.2_Missense_Mutation_p.G218A|LAMA4_ENST00000522006.1_Missense_Mutation_p.G218A NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 218 Laminin EGF-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACACTTGAATCCGGTGGTGTT 0.488000 4 51 0 0 1 0 0 BTBD2 55643 broad.mit.edu 37 19 1993151 1993151 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:1993151C>G ENST00000255608.4 - 3 568 c.552G>C c.(550-552)caG>caC p.Q184H BTBD2_ENST00000590646.1_5'UTR NM_017797.3 NP_060267.2 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 184 BTB. cytoplasmic mRNA processing body protein binding endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGCCAATCTGCACCTCGT 0.642000 7 44 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940861 144940861 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:144940861G>A ENST00000525985.1 - 2 6632 c.6561C>T c.(6559-6561)ctC>ctT p.L2187L P58107 EPIPL_HUMAN epiplakin 1 2187 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCTGAGCTGAGGAGTTCAG 0.537000 26 210 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77691979 77691979 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:77691979C>T ENST00000296043.6 + 10 6503 c.5550C>T c.(5548-5550)tcC>tcT p.S1850S RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1850 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TGCTGCTCTCCCTCTCGGGGC 0.522000 24 103 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9025598 9025598 + Silent SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:9025598A>G ENST00000397910.4 - 15 37059 c.36856T>C c.(36856-36858)Ttg>Ctg p.L12286L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12288 SEA 2. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACCTGAGCAAGGTCAATCTG 0.527000 21 115 0 0 1 0 0 TMCC3 57458 broad.mit.edu 37 12 94975783 94975783 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:94975783T>C ENST00000261226.4 - 2 741 c.610A>G c.(610-612)Aga>Gga p.R204G TMCC3_ENST00000551457.1_Missense_Mutation_p.R173G NM_020698.2 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 204 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 GCAAACTCTCTGGACTTATTG 0.512000 13 82 0 0 1 0 0 IMMP2L 83943 broad.mit.edu 37 7 110526696 110526696 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:110526696C>T ENST00000405709.2 - 5 803 c.361G>A c.(361-363)Gaa>Aaa p.E121K IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Missense_Mutation_p.E121K|IMMP2L_ENST00000450877.1_Missense_Mutation_p.E103K|IMMP2L_ENST00000331762.3_Missense_Mutation_p.E121K|IMMP2L_ENST00000415362.1_Missense_Mutation_p.E121K NM_032549.3 NP_115938.1 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 121 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) TGATCACCTTCAACCCAGATG 0.403000 6 73 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574096 140574096 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:140574096G>A ENST00000239446.4 + 1 2155 c.1971G>A c.(1969-1971)acG>acA p.T657T NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 657 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACCGCCACGCTGCACTTGC 0.706000 7 52 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284097 159284097 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:159284097A>G ENST00000332217.5 - 1 352 c.353T>C c.(352-354)gTc>gCc p.V118A NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) ATATCCCATGACTGTGAGCAG 0.522000 9 118 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130505656 130505656 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:130505656G>T ENST00000532763.1 - 5 619 c.490C>A c.(490-492)Ccg>Acg p.P164T SAMD3_ENST00000324172.6_Missense_Mutation_p.P166T|SAMD3_ENST00000368134.2_Missense_Mutation_p.P166T|SAMD3_ENST00000457563.2_Missense_Mutation_p.P190T|SAMD3_ENST00000439090.2_Missense_Mutation_p.P166T|SAMD3_ENST00000437477.2_Missense_Mutation_p.P166T|SAMD3_ENST00000533296.1_5'UTR Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 166 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CTGTGATCCGGGCACTTCTGC 0.453000 5 57 1.23904e-05 1.31015e-05 1 1 0 CPB1 1360 broad.mit.edu 37 3 148562481 148562481 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:148562481G>C ENST00000491148.1 + 9 1039 c.705G>C c.(703-705)aaG>aaC p.K235N CPB1_ENST00000282957.4_Missense_Mutation_p.K235N P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 235 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTGGAGAAAGACTCGCTCCA 0.438000 7 105 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 117026389 117026389 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:117026389G>A ENST00000355044.3 + 12 2014 c.1888G>A c.(1888-1890)Ggg>Agg p.G630R NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 630 PSI 1. integral to membrane sugar binding p.G630R(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TGCTGGTCCAGGGATAAAATG 0.363000 12 90 0 0 1 0 0 KLF5 688 broad.mit.edu 37 13 73636396 73636396 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:73636396C>T ENST00000377687.4 + 2 1195 c.659C>T c.(658-660)tCt>tTt p.S220F KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.S129F NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 220 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CTTCATCTTTCTGTCCCTACC 0.463000 4 93 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377405 44377405 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:44377405G>A ENST00000587539.1 - 3 960 c.961C>T c.(961-963)Cat>Tat p.H321Y ZNF404_ENST00000324394.6_Missense_Mutation_p.H319Y NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) TCACCAGTATGACTTCTTTGA 0.373000 5 50 0 0 1 0 0 SLC22A1 6580 broad.mit.edu 37 6 160555032 160555032 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:160555032C>T ENST00000366963.4 + 4 861 c.714C>T c.(712-714)atC>atT p.I238I SLC22A1_ENST00000324965.4_Silent_p.I238I|SLC22A1_ENST00000457470.2_Silent_p.I238I NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 238 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) CGGTGGCGATCATGTACCAGA 0.632000 5 66 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58422944 58422944 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:58422944C>T ENST00000300896.4 - 2 278 c.84G>A c.(82-84)ctG>ctA p.L28L USP32_ENST00000393003.3_Silent_p.L28L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 28 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AAGCATCCTTCAGTCGTTTTA 0.458000 4 79 0 0 1 0 0 KLF6 1316 broad.mit.edu 37 10 3823941 3823941 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:3823941C>T ENST00000497571.1 - 2 828 c.568G>A c.(568-570)Gat>Aat p.D190N KLF6_ENST00000173785.4_Intron|KLF6_ENST00000542957.1_Missense_Mutation_p.D190N|KLF6_ENST00000469435.1_Missense_Mutation_p.D190N NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 190 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) GGGGAGGCATCGCCATTTCCC 0.627000 OREG0019980 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 57 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95080900 95080900 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:95080900G>A ENST00000467132.1 + 2 1270 c.122G>A c.(121-123)cGa>cAa p.R41Q SERPINA3_ENST00000393078.3_Missense_Mutation_p.R41Q|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.R41Q P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 41 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AACCAAGACCGAGGGACACAC 0.582000 13 123 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99695470 99695470 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:99695470C>G ENST00000303887.5 - 8 1617 c.972G>C c.(970-972)ctG>ctC p.L324L MCM7_ENST00000343023.6_Silent_p.L324L|MCM7_ENST00000354230.3_Silent_p.L148L NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 324 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CAATTTGCCTCAGCTCCTCCC 0.493000 10 122 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744768 81744768 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:81744768G>A ENST00000555447.1 - 6 1299 c.887C>T c.(886-888)tCt>tTt p.S296F STON2_ENST00000267540.2_Missense_Mutation_p.S296F NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 296 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) GCGGTTTAAAGAGGAAATATC 0.468000 7 97 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53586766 53586766 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:53586766C>G ENST00000025008.5 - 7 1164 c.641G>C c.(640-642)aGa>aCa p.R214T RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.R214T|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R214T NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 214 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) CAAACATTCTCTGTAACTATG 0.398000 9 135 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65220341 65220341 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:65220341C>T ENST00000389722.3 - 32 6569 c.6516G>A c.(6514-6516)ccG>ccA p.P2172P SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Silent_p.P2172P NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 0 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CATGGTCCCGCGGGGCCGGCA 0.627000 12 140 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11323951 11323951 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:11323951C>T ENST00000294618.7 - 35 4403 c.4392G>A c.(4390-4392)ctG>ctA p.L1464L DOCK6_ENST00000319867.7_Silent_p.L803L|CTC-510F12.2_ENST00000588634.1_RNA NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1464 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GTAGGAGCCTCAGGCACAGGT 0.647000 6 28 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117188538 117188538 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr9:117188538C>G ENST00000362057.3 - 4 1287 c.1119G>C c.(1117-1119)aaG>aaC p.K373N DFNB31_ENST00000265134.6_5'UTR NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 373 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGCGATCCACTTGGTCTCGT 0.617000 6 54 0 0 1 0 0 TAF4 6874 broad.mit.edu 37 20 60578285 60578285 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:60578285G>A ENST00000252996.4 - 9 2416 c.2417C>T c.(2416-2418)tCt>tTt p.S806F NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CGAGACAGCAGAAAGGGCTTT 0.493000 7 111 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987890 182987890 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182987890G>A ENST00000326505.3 + 2 834 c.304G>A c.(304-306)Gat>Aat p.D102N B3GNT5_ENST00000460419.1_Missense_Mutation_p.D102N|B3GNT5_ENST00000465010.1_Missense_Mutation_p.D102N|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 102 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGAAAACTATGATCGACGTTC 0.438000 5 67 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128326289 128326289 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:128326289G>C ENST00000368227.3 - 15 2800 c.2434C>G c.(2434-2436)Ctg>Gtg p.L812V PTPRK_ENST00000368215.3_Missense_Mutation_p.L811V|PTPRK_ENST00000368210.3_Missense_Mutation_p.L812V|PTPRK_ENST00000368213.5_Missense_Mutation_p.L812V|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.L812V|PTPRK_ENST00000368207.3_Missense_Mutation_p.L822V|PTPRK_ENST00000532331.1_Missense_Mutation_p.L812V Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 811 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCTGCATGCAGAGTGCTCTGA 0.393000 7 54 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171080103 171080103 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:171080103C>T ENST00000367755.4 + 6 903 c.792C>T c.(790-792)ttC>ttT p.F264F FMO3_ENST00000538429.1_Silent_p.F201F|FMO3_ENST00000542847.1_Silent_p.F244F|FMO3_ENST00000392085.2_Silent_p.F264F NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 264 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATGCAAGATTCAAGCATGAAA 0.443000 6 100 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52909217 52909217 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:52909217C>A ENST00000391788.2 + 5 566 c.43C>A c.(43-45)Ctg>Atg p.L15M ZNF528_ENST00000598192.1_Missense_Mutation_p.L25M|ZNF528_ENST00000360465.3_Missense_Mutation_p.L25M|ZNF528_ENST00000594530.1_Missense_Mutation_p.L25M Q3MIS6 ZN528_HUMAN zinc finger protein 528 25 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GTGGAAATGCCTGGACCCTGC 0.488000 42 145 8.69298e-16 9.59225e-16 1 1 0 SSTR3 6753 broad.mit.edu 37 22 37603237 37603237 + Nonsense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:37603237C>T ENST00000328544.3 - 2 1139 c.606G>A c.(604-606)tgG>tgA p.W202* SSTR3_ENST00000402501.1_Nonsense_Mutation_p.W202* NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 202 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 AGCCGGCTCGCCAGGCCGCCG 0.682000 3 16 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87486543 87486543 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:87486543C>T ENST00000406452.3 - 10 1098 c.939G>A c.(937-939)aaG>aaA p.K313K RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000519966.1_Silent_p.K270K|RMDN1_ENST00000430676.2_Silent_p.K283K NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 GTTCTCAATTCTTCTCACTGA 0.308000 9 100 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133978214 133978214 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:133978214G>C ENST00000298622.4 + 20 2597 c.2459G>C c.(2458-2460)aGa>aCa p.R820T JAKMIP3_ENST00000477275.1_3'UTR NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) GCTCAGAAGAGACAAATAAAG 0.418000 3 26 0 0 1 0 0 C1orf111 284680 broad.mit.edu 37 1 162343919 162343919 + Silent SNP G G A rs144886006 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:162343919G>A ENST00000367935.5 - 3 784 c.705C>T c.(703-705)ctC>ctT p.L235L RP11-565P22.6_ENST00000431696.1_Intron NM_182581.3 NP_872387.2 Q5T0L3 CA111_HUMAN chromosome 1 open reading frame 111 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 all_hematologic(112;0.15) BRCA - Breast invasive adenocarcinoma(70;0.0938) TGCCGGAGGAGAGCCTGTCTC 0.552000 10 243 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182988310 182988310 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182988310G>A ENST00000326505.3 + 2 1254 c.724G>A c.(724-726)Gaa>Aaa p.E242K B3GNT5_ENST00000460419.1_Missense_Mutation_p.E242K|B3GNT5_ENST00000465010.1_Missense_Mutation_p.E242K|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 242 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CGTGTCCTATGAAATGTACCA 0.463000 5 88 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65705934 65705934 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:65705934C>T ENST00000304842.5 + 2 947 c.522C>T c.(520-522)ttC>ttT p.F174F TPST1_ENST00000480281.1_Intron NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 174 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CTAGGTTATTCCCCAATGCCA 0.398000 5 68 0 0 1 0 0 ABCB7 22 broad.mit.edu 37 X 74291394 74291394 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chrX:74291394C>A ENST00000253577.3 - 9 1184 c.1160G>T c.(1159-1161)aGt>aTt p.S387I ABCB7_ENST00000339447.4_Missense_Mutation_p.S346I|ABCB7_ENST00000373394.3_Missense_Mutation_p.S386I|ABCB7_ENST00000534570.1_5'UTR NM_001271696.1|NM_004299.3 NP_001258625.1|NP_004290.2 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 7 386 ABC transmembrane type-1. cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1) 20 TAAACCGACACTGAAAATAGC 0.408000 4 63 0.00909568 0.00929441 1 1 0 B3GNT5 84002 broad.mit.edu 37 3 182988588 182988588 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:182988588G>C ENST00000326505.3 + 2 1532 c.1002G>C c.(1000-1002)aaG>aaC p.K334N B3GNT5_ENST00000460419.1_Missense_Mutation_p.K334N|B3GNT5_ENST00000465010.1_Missense_Mutation_p.K334N|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 334 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ACCTTTGGAAGAATGCTACAG 0.343000 4 33 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3382105 3382105 + Silent SNP G G A rs146650773 by1000genomes TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:3382105G>A ENST00000589123.1 + 2 519 c.399G>A c.(397-399)ccG>ccA p.P133P NFIC_ENST00000346156.5_Silent_p.P133P|NFIC_ENST00000395111.3_Silent_p.P133P|NFIC_ENST00000590282.1_Silent_p.P142P|NFIC_ENST00000341919.3_Silent_p.P142P|NFIC_ENST00000586919.1_Silent_p.P133P|NFIC_ENST00000443272.2_Silent_p.P142P NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 142 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) AGGGCATCCCGCTGGAGAGCA 0.672000 4 130 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1367618 1367618 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:1367618G>A ENST00000446702.2 + 9 1693 c.1066G>A c.(1066-1068)Gaa>Aaa p.E356K CNTN6_ENST00000350110.2_Missense_Mutation_p.E356K|CNTN6_ENST00000539053.1_Missense_Mutation_p.E284K Q9UQ52 CNTN6_HUMAN contactin 6 356 Ig-like C2-type 4. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AAAAAATGGTGAACGACTCAA 0.358000 3 56 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164724636 164724636 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:164724636G>T ENST00000264382.3 - 37 4436 c.4374C>A c.(4372-4374)ctC>ctA p.L1458L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1458 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCATCCATAGAGATTGTGAA 0.348000 HNSCC(35;0.089) 5 58 0.00116845 0.00120206 1 1 0 HTR1A 3350 broad.mit.edu 37 5 63257013 63257013 + Silent SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:63257013C>A ENST00000323865.3 - 1 767 c.534G>T c.(532-534)ccG>ccT p.P178P RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 178 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) AGCGGTCTTCCGGGGTGCGCC 0.597000 29 143 2.51541e-25 2.80618e-25 1 1 0 OR5K1 26339 broad.mit.edu 37 3 98189002 98189002 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:98189002C>T ENST00000332650.5 + 1 679 c.582C>T c.(580-582)atC>atT p.I194I NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ATCCTTATATCAATGAACTGG 0.333000 14 159 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130505642 130505642 + Missense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:130505642C>A ENST00000532763.1 - 5 633 c.504G>T c.(502-504)atG>atT p.M168I SAMD3_ENST00000324172.6_Missense_Mutation_p.M170I|SAMD3_ENST00000368134.2_Missense_Mutation_p.M170I|SAMD3_ENST00000457563.2_Missense_Mutation_p.M194I|SAMD3_ENST00000439090.2_Missense_Mutation_p.M170I|SAMD3_ENST00000437477.2_Missense_Mutation_p.M170I|SAMD3_ENST00000533296.1_5'UTR Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 170 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TCCTTATCCTCATGCTGTGAT 0.468000 8 54 0.000274275 0.000284572 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185969231 185969231 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:185969231G>A ENST00000271588.4 + 26 4158 c.3929G>A c.(3928-3930)aGa>aAa p.R1310K HMCN1_ENST00000367492.2_Missense_Mutation_p.R1310K NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1310 Ig-like C2-type 10. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTGACAGGCAGAGAGCCTGGC 0.398000 12 81 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38037247 38037247 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:38037247G>C ENST00000261439.4 + 8 1696 c.1341G>C c.(1339-1341)ttG>ttC p.L447F TBC1D1_ENST00000508802.1_Missense_Mutation_p.L447F NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 447 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AGAATGAATTGATTATTTCTT 0.333000 8 36 0 0 1 0 0 RNF31 55072 broad.mit.edu 37 14 24617902 24617902 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:24617902G>A ENST00000324103.6 + 4 867 c.547G>A c.(547-549)Gaa>Aaa p.E183K RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.E32K|RNF31_ENST00000559275.1_Missense_Mutation_p.E32K NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 183 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) AGACAAGGTTGAAGATGATGT 0.453000 6 71 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36641489 36641489 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:36641489T>C ENST00000373448.2 - 3 968 c.730A>G c.(730-732)Agc>Ggc p.S244G TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.S244G|TTI1_ENST00000449821.1_Missense_Mutation_p.S244G NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 244 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 ATAATGAAGCTCACTGTCTTG 0.443000 12 150 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25473722 25473722 + Splice_Site SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:25473722C>A ENST00000381884.4 - 9 3011 c.2826G>T c.(2824-2826)agG>agT p.R942S CENPJ_ENST00000545981.1_Splice_Site_p.R942S NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 942 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CAATTTCTTTCCTAAAATGAC 0.403000 7 29 0.000442599 0.000457654 1 1 0 AOX1 316 broad.mit.edu 37 2 201505863 201505863 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:201505863G>C ENST00000374700.2 + 24 2852 c.2611G>C c.(2611-2613)Gag>Cag p.E871Q AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 871 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CCTGGACATGGAGCATTACAG 0.443000 3 45 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160388962 160388962 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:160388962C>G ENST00000368061.2 + 4 837 c.363C>G c.(361-363)ctC>ctG p.L121L NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 121 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTCTTTCCTCACGCCTCTGG 0.662000 6 110 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72623791 72623791 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:72623791C>T ENST00000273951.8 - 7 1142 c.799G>A c.(799-801)Gag>Aag p.E267K GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Missense_Mutation_p.E267K|GC_ENST00000504199.1_Missense_Mutation_p.E286K NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 267 Albumin 2. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) GAGGCAGACTCACAGCATTTG 0.433000 13 77 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17382607 17382607 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:17382607G>C ENST00000242057.4 + 11 3109 c.2466G>C c.(2464-2466)caG>caC p.Q822H NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 822 LNETYPAELNNINNTQTTTHLQPLHHPSEARPFPDLTSSGF L -> FK (in Ref. 1; BAA03857). apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) ATAACACTCAGACTACCACAC 0.368000 45 149 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5791660 5791660 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:5791660C>G ENST00000328090.5 + 15 6901 c.6276C>G c.(6274-6276)ctC>ctG p.L2092L NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2092 CATTCCACCTCAACAAACTGA 0.383000 4 37 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50898430 50898430 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr22:50898430C>G ENST00000380817.3 - 26 3625 c.3442G>C c.(3442-3444)Gag>Cag p.E1148Q SBF1_ENST00000390679.3_Missense_Mutation_p.E1148Q|SBF1_ENST00000348911.6_Missense_Mutation_p.E1149Q NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CGGAAGGGCTCAGACTTGGCC 0.662000 7 63 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74073117 74073117 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr17:74073117C>T ENST00000329003.3 + 2 859 c.769C>T c.(769-771)Ctc>Ttc p.L257F NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 257 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 CGCGCTCATCCTCTGCGTGTG 0.662000 4 42 0 0 1 0 0 TXNDC11 51061 broad.mit.edu 37 16 11792094 11792094 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:11792094G>A ENST00000356957.3 - 8 1182 c.1075C>T c.(1075-1077)Cgg>Tgg p.R359W TXNDC11_ENST00000283033.5_Missense_Mutation_p.R332W Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 359 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CCGTGTGGCCGCAGCCACCGA 0.527000 3 75 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160604796 160604796 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:160604796C>G ENST00000259050.4 + 5 1117 c.995C>G c.(994-996)tCa>tGa p.S332* MARCH7_ENST00000409591.1_Nonsense_Mutation_p.S294*|MARCH7_ENST00000409175.1_Nonsense_Mutation_p.S332*|MARCH7_ENST00000539065.1_Nonsense_Mutation_p.S276* NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 AATGTACCATCAGCTTCTGAA 0.413000 3 39 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108626914 108626914 + Silent SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:108626914G>T ENST00000261047.3 - 4 717 c.585C>A c.(583-585)tcC>tcA p.S195S GUCA1C_ENST00000393963.3_3'UTR NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 195 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 CAGGAGATTTGGAGGAGTCTG 0.453000 7 38 7.03913e-09 7.65615e-09 1 1 0 KIAA0430 9665 broad.mit.edu 37 16 15706612 15706612 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:15706612C>G ENST00000396368.3 - 17 3482 c.3276G>C c.(3274-3276)aaG>aaC p.K1092N KIAA0430_ENST00000602337.1_Missense_Mutation_p.K1089N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.K694N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.K1092N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.K927N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.K1089N NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1091 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 CTACAGGACTCTTCGAACGCA 0.468000 14 137 0 0 1 0 0 ECM1 1893 broad.mit.edu 37 1 150483939 150483939 + Missense_Mutation SNP G G A rs149230481 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:150483939G>A ENST00000369047.4 + 7 840 c.715G>A c.(715-717)Gaa>Aaa p.E239K ECM1_ENST00000369049.4_Missense_Mutation_p.E266K|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Intron NM_004425.3 NP_004416.2 Q16610 ECM1_HUMAN extracellular matrix protein 1 239 2 X approximate repeats. angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1) 22 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CTAGTGGGAGGAAGCAATGAG 0.597000 26 177 0 0 1 0 0 OR4C6 219432 broad.mit.edu 37 11 55432656 55432656 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:55432656A>G ENST00000314259.3 + 1 43 c.14A>G c.(13-15)aAc>aGc p.N5S NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GAAAATCAAAACAATGTGACT 0.373000 12 80 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153701160 153701160 + Missense_Mutation SNP G G T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:153701160G>T ENST00000318967.2 + 1 618 c.50G>T c.(49-51)gGa>gTa p.G17V INTS3_ENST00000435409.2_Missense_Mutation_p.G17V|INTS3_ENST00000456435.1_5'UTR NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 17 Ala/Gly-rich. DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTGCTTCGggagcagcggga 0.622000 8 47 1.58986e-06 1.70784e-06 1 1 0 UVSSA 57654 broad.mit.edu 37 4 1347046 1347046 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:1347046C>T ENST00000389851.4 + 5 1226 c.779C>T c.(778-780)tCt>tTt p.S260F UVSSA_ENST00000511216.1_Missense_Mutation_p.S260F|UVSSA_ENST00000507531.1_Missense_Mutation_p.S260F NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 260 CTGCCTGCCTCTGCAGGCCAC 0.706000 3 17 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141752666 141752666 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr7:141752666G>A ENST00000475668.2 + 26 3095 c.3041G>A c.(3040-3042)gGg>gAg p.G1014E MGAM_ENST00000549489.2_Missense_Mutation_p.G1014E O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1014 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AATTCCCATGGGGCCACAGCT 0.463000 21 103 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139278012 139278012 + Silent SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr8:139278012C>G ENST00000395297.1 - 4 401 c.231G>C c.(229-231)cgG>cgC p.R77R NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 77 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTCTTCATTCCGGTATAAGA 0.493000 HNSCC(54;0.14) 6 74 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33146477 33146477 + Silent SNP G G A rs139350991 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:33146477G>A ENST00000341947.2 - 18 1925 c.1698C>T c.(1696-1698)ctC>ctT p.L566L COL11A2_ENST00000374714.1_Silent_p.L540L|COL11A2_ENST00000361917.1_Silent_p.L459L|COL11A2_ENST00000357486.1_Silent_p.L545L|COL11A2_ENST00000374712.1_Silent_p.L485L|COL11A2_ENST00000374708.4_Silent_p.L480L|COL11A2_ENST00000374713.1_Silent_p.L519L|COL11A2_ENST00000395197.1_Silent_p.L506L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 566 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCTCTCCAGGGAGCCCTGGGA 0.562000 10 194 0 0 1 0 0 HAL 3034 broad.mit.edu 37 12 96389601 96389601 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:96389601C>T ENST00000261208.3 - 2 456 c.88G>A c.(88-90)Gag>Aag p.E30K HAL_ENST00000541929.1_5'UTR|HAL_ENST00000538703.1_Missense_Mutation_p.E30K NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 30 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) CTCACGGCCTCCCGGCCCAGC 0.652000 7 33 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128722376 128722376 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:128722376G>A ENST00000296464.4 + 5 924 c.513G>A c.(511-513)atG>atA p.M171I HSPA4L_ENST00000439123.2_Missense_Mutation_p.M202I|HSPA4L_ENST00000508776.1_Missense_Mutation_p.M171I|HSPA4L_ENST00000505726.1_Missense_Mutation_p.M145I NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 TAAGGTTGATGAATGAAACTA 0.328000 8 34 0 0 1 0 0 APEH 327 broad.mit.edu 37 3 49716346 49716346 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:49716346G>A ENST00000296456.5 + 12 1522 c.1122G>A c.(1120-1122)caG>caA p.Q374Q APEH_ENST00000438011.1_Silent_p.Q374Q NM_001640.3 NP_001631.3 P13798 ACPH_HUMAN acylaminoacyl-peptide hydrolase 374 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTGACAGCCAGAGAGTGGTCT 0.602000 7 91 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39254832 39254832 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:39254832G>C ENST00000399820.3 + 25 2950 c.2796G>C c.(2794-2796)ctG>ctC p.L932L WDR19_ENST00000288634.7_Silent_p.L772L NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 932 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 GCATCTATCTGGATCACCTCA 0.348000 8 56 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158747170 158747170 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:158747170G>A ENST00000339258.1 - 1 255 c.256C>T c.(256-258)Ctc>Ttc p.L86F NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) TTCTCACTGAGAATATTAGAC 0.453000 9 146 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111702567 111702567 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:111702567G>A ENST00000435970.1 - 12 1759 c.943C>T c.(943-945)Cag>Tag p.Q315* REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q393*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q393*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q393* O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 393 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GTCAAAGGCTGAAAAGTCTGA 0.343000 DNA polymerases (catalytic subunits) 5 75 0 0 1 0 0 TMTC1 83857 broad.mit.edu 37 12 29736357 29736357 + Silent SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:29736357T>A ENST00000256062.5 - 8 1550 c.1077A>T c.(1075-1077)tcA>tcT p.S359S TMTC1_ENST00000381224.2_Silent_p.S421S|TMTC1_ENST00000552618.1_Silent_p.S529S|TMTC1_ENST00000551659.1_Silent_p.S529S|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.S467S NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 467 integral to membrane binding breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GGGACTCTCTTGACAGCCAAA 0.398000 4 55 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109661365 109661365 + Missense_Mutation SNP A A G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:109661365A>G ENST00000356711.2 + 22 2623 c.2497A>G c.(2497-2499)Aac>Gac p.N833D MYO16_ENST00000457511.2_Missense_Mutation_p.N345D|MYO16_ENST00000251041.5_Missense_Mutation_p.N833D|MYO16_ENST00000357550.2_Missense_Mutation_p.N833D NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 833 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) TTCTCCTGGTAACCAGAATGG 0.353000 11 128 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129127548 129127548 + Nonsense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:129127548G>A ENST00000505956.1 - 6 1351 c.1189C>T c.(1189-1191)Caa>Taa p.Q397* EFCAB12_ENST00000326085.3_Nonsense_Mutation_p.Q397* NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 TTCCAGCATTGCAGGTAGACC 0.572000 3 6 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46394037 46394037 + Silent SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr11:46394037G>A ENST00000454345.1 + 12 1676 c.1551G>A c.(1549-1551)ctG>ctA p.L517L DGKZ_ENST00000343674.6_Silent_p.L345L|DGKZ_ENST00000527911.1_Silent_p.L329L|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Silent_p.L328L|DGKZ_ENST00000395574.3_Silent_p.L295L|DGKZ_ENST00000318201.8_Silent_p.L306L|DGKZ_ENST00000528615.1_Silent_p.L107L|DGKZ_ENST00000532868.2_Silent_p.L333L|DGKZ_ENST00000421244.2_Silent_p.L329L NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 517 DAGKc.|Mediates interaction with RASGRP1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TCTTCGACCTGAGCCAGGGAG 0.577000 8 90 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117504176 117504176 + Missense_Mutation SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:117504176G>C ENST00000393203.2 + 5 1672 c.1525G>C c.(1525-1527)Gac>Cac p.D509H NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 509 Ig-like C2-type 4. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TACAGAGGAAGACAGAGGCAA 0.463000 6 89 0 0 1 0 0 CCDC64 92558 broad.mit.edu 37 12 120510439 120510439 + Missense_Mutation SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:120510439C>T ENST00000397558.2 + 6 1214 c.1214C>T c.(1213-1215)tCg>tTg p.S405L CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Missense_Mutation_p.S54L NM_207311.2 NP_997194.2 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 405 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCAGAAACCTCGTCCGCCAAG 0.567000 8 62 0 0 1 0 0 SOX8 30812 broad.mit.edu 37 16 1035195 1035195 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:1035195G>A ENST00000293894.3 + 3 1265 c.1150G>A c.(1150-1152)Ggc>Agc p.G384S NM_014587.3 NP_055402.2 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 384 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1) 10 Hepatocellular(780;0.00308) GGGCGACTATGGCGACCTGCA 0.731000 5 15 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043444 71043444 + Missense_Mutation SNP T T A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:71043444T>A ENST00000272367.2 - 4 1145 c.1069A>T c.(1069-1071)Act>Tct p.T357S CLEC4F_ENST00000426626.1_Missense_Mutation_p.T357S NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 357 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 TGAATCTGAGTATCTGTCTGG 0.408000 7 72 0 0 1 0 0 G3BP2 9908 broad.mit.edu 37 4 76572312 76572312 + Missense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:76572312C>G ENST00000359707.4 - 10 1743 c.958G>C c.(958-960)Gac>Cac p.D320H G3BP2_ENST00000357854.3_Missense_Mutation_p.D287H|G3BP2_ENST00000395719.3_Missense_Mutation_p.D320H NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 320 cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CTACGGTTGTCAGAGTCATTC 0.343000 12 105 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76335156 76335156 + Nonsense_Mutation SNP C C G TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:76335156C>G ENST00000357063.3 + 5 1715 c.455C>G c.(454-456)tCa>tGa p.S152* LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Nonsense_Mutation_p.S152*|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Nonsense_Mutation_p.S152*|LMO7_ENST00000526202.1_Nonsense_Mutation_p.S61* Q8WWI1 LMO7_HUMAN LIM domain 7 152 CH. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CAGGATTTATCAAATCGAGTC 0.333000 15 34 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15296770 15296770 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:15296770G>A ENST00000378116.4 - 4 533 c.527C>T c.(526-528)tCg>tTg p.S176L NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 176 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GTCCACCTCCGAAGGGGAGCT 0.507000 5 32 0 0 1 0 0 RAP2B 5912 broad.mit.edu 37 3 152880590 152880590 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:152880590C>T ENST00000323534.2 + 1 562 c.108C>T c.(106-108)atC>atT p.I36I NM_002886.2 NP_002877.2 P61225 RAP2B_HUMAN RAP2B, member of RAS oncogene family 36 Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) ACCCGACCATCGAAGACTTTT 0.627000 9 117 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27092815 27092815 + Frame_Shift_Del DEL C C - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:27092815delC ENST00000324856.7 + 9 3207 c.2836delC c.(2836-2838)cccfs p.P947fs ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P947fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P564fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 947 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCTCAGGGACCCCCATATTC 0.483 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 18 129 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210193 143210194 + RNA INS - - T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr1:143210193_143210194insT ENST00000412204.2 - 0 876_877 RP11-782C8.1_ENST00000438000.1_lincRNA GGCAGCATTTGTTTTTTTAACA 0.317 7 58 --- --- --- --- ITGA6 3655 broad.mit.edu 37 2 173337614 173337614 + Frame_Shift_Del DEL C C - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr2:173337614delC ENST00000375221.2 + 6 1091 c.888delC c.(886-888)tacfs p.Y296fs ITGA6_ENST00000264106.6_Frame_Shift_Del_p.Y296fs|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000409532.1_Frame_Shift_Del_p.Y138fs|ITGA6_ENST00000343713.4_Frame_Shift_Del_p.Y252fs P23229 ITA6_HUMAN integrin, alpha 6 296 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TGAATAGCTACCTAGGTTTGT 0.408 16 86 --- --- --- --- TBC1D23 55773 broad.mit.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr3:100039735_100039736insA ENST00000394144.4 + 18 1945_1946 c.1938_1939insA c.(1939-1941)aaafs p.K647fs TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.K510fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.K632fs NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 647 intracellular Rab GTPase activator activity p.?(2)|p.H650fs*3(1)|p.H635fs*3(1) breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 AAATTACATCCAAAAAAAAACA 0.356 8 77 --- --- --- --- UBE2K 3093 broad.mit.edu 37 4 39779392 39779392 + Frame_Shift_Del DEL A A - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr4:39779392delA ENST00000261427.5 + 6 774 c.490delA c.(490-492)aaafs p.K165fs UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000445950.2_Intron|UBE2K_ENST00000503368.1_Frame_Shift_Del_p.K114fs|UBE2K_ENST00000295963.6_Frame_Shift_Del_p.K104fs NM_001111112.1|NM_005339.4 NP_001104582.1|NP_005330.1 P61086 UBE2K_HUMAN ubiquitin-conjugating enzyme E2K 165 UBA. protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity large_intestine(1)|lung(1)|ovary(2) 4 AGAATACACCAAAAAAATAGA 0.363 7 122 --- --- --- --- NRG2 9542 broad.mit.edu 37 5 139422565 139422567 + In_Frame_Del DEL GCT GCT - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr5:139422565_139422567delGCT ENST00000541337.1 - 1 317_319 c.88_90delAGC c.(88-90)agcdel p.S30del NRG2_ENST00000394770.1_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del|NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 30 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgctcctctcgctgctgctgctg 0.675 4 3 --- --- --- --- IFNGR1 3459 broad.mit.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr6:137519505_137519506delCT ENST00000367739.4 - 7 1253_1254 c.1132_1133delAG c.(1132-1134)agtfs p.S380fs IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 380 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) AGGTGAAGAACTCTCTCTCTCT 0.431 8 145 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)agtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 8 149 --- --- --- --- IQSEC3 440073 broad.mit.edu 37 12 248252 248254 + In_Frame_Del DEL GAG GAG - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr12:248252_248254delGAG ENST00000538872.1 + 4 1841_1843 c.1723_1725delGAG c.(1723-1725)gagdel p.E579del IQSEC3_ENST00000382841.2_In_Frame_Del_p.E276del|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_In_Frame_Del_p.E579del Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 579 Poly-Glu. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) Agaggaggaagaggaggaggagg 0.700 2 4 --- --- --- --- RNF17 56163 broad.mit.edu 37 13 25419163 25419163 + Frame_Shift_Del DEL A A - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:25419163delA ENST00000255324.5 + 22 3099 c.3047delA c.(3046-3048)gaafs p.E1016fs RNF17_ENST00000339524.3_Frame_Shift_Del_p.E68fs|RNF17_ENST00000381921.1_Frame_Shift_Del_p.E1016fs NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1016 Tudor 2. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AAACTTGAAGAAAATCTAAAG 0.303 18 118 --- --- --- --- GSX1 219409 broad.mit.edu 37 13 28367927 28367929 + In_Frame_Del DEL GGC GGC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr13:28367927_28367929delGGC ENST00000302945.2 + 2 685_687 c.637_639delGGC c.(637-639)ggcdel p.G218del NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 218 Poly-Gly. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAACCATCgtggcggcggcggcg 0.631 7 93 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)tccdel p.S1468del SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_001284247.1|NM_015556.1 NP_001271176.1|NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 7 167 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-519)gacaagfs p.DK172fs IL32_ENST00000534507.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 11 307 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atctcc>atc p.S218del C19orf55_ENST00000396908.4_In_Frame_Del_p.S218del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 218 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 8 402 --- --- --- --- RBCK1 10616 broad.mit.edu 37 20 401519 401521 + In_Frame_Del DEL AGC AGC - TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 52de410f-3ce3-4ee6-87f3-8ec2e829962f d261214a-bf85-4af6-936a-9350303517bb g.chr20:401519_401521delAGC ENST00000356286.5 + 7 1466_1468 c.761_763delAGC c.(760-765)aagcag>aag p.Q258del RBCK1_ENST00000353660.3_In_Frame_Del_p.Q216del|RBCK1_ENST00000382181.2_Intron NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 258 Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) GCCCAGCGGAAGCAGCAGCAGCA 0.729 2 4 --- --- --- ---