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 TTLL11 158135 broad.mit.edu 37 9 124794104 124794104 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:124794104C>T ENST00000321582.5 - 3 1048 c.861G>A c.(859-861)ctG>ctA p.L287L TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000373776.3_Silent_p.L287L NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 287 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 CTGCTCTGCTCAGAGTAATTT 0.478000 32 99 0 0 0.013726 0 0 EPHA2 1969 broad.mit.edu 37 1 16464404 16464404 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:16464404G>C ENST00000358432.5 - 5 1410 c.1256C>G c.(1255-1257)tCa>tGa p.S419* NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 419 Fibronectin type-III 1. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TACCAGGCCTGAGACGCCATT 0.637000 17 79 0 0 0.006122 0 0 TCEB1 6921 broad.mit.edu 37 8 74859029 74859029 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:74859029C>T ENST00000518127.1 - 4 267 c.175G>A c.(175-177)Gag>Aag p.E59K TCEB1_ENST00000520210.1_Missense_Mutation_p.E43K|TCEB1_ENST00000523815.1_Missense_Mutation_p.E59K|TCEB1_ENST00000519487.1_Missense_Mutation_p.E59K|TCEB1_ENST00000522337.1_Missense_Mutation_p.E59K|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000520242.1_Missense_Mutation_p.E59K|TCEB1_ENST00000284811.8_Missense_Mutation_p.E59K NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1 NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1 Q15369 ELOC_HUMAN transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) 59 interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction cytosol|nucleoplasm protein binding endometrium(2)|kidney(3)|lung(1)|prostate(1) 7 Breast(64;0.0311) Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499) AAATTGACCTCATTGGTTTCG 0.383000 18 55 0 0 0.010504 0 0 SBNO1 55206 broad.mit.edu 37 12 123810857 123810857 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:123810857G>A ENST00000420886.2 - 13 1716 c.1717C>T c.(1717-1719)Cag>Tag p.Q573* SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q573*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q572*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q572* NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 573 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) GCAGCTTGCTGAAACCGCTCT 0.403000 20 175 0 0 0.010504 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 18023375 18023375 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:18023375G>A ENST00000361221.3 + 29 3499 c.3340G>A c.(3340-3342)Ggg>Agg p.G1114R ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G1075R|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G887R|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G817R|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G1075R NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 1114 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CGGGCACTGTGGGCCTGTGGC 0.627000 OREG0013156 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 32 0 0 0.013537 0 0 ZNF623 9831 broad.mit.edu 37 8 144732148 144732148 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:144732148G>A ENST00000501748.2 + 1 195 c.106G>A c.(106-108)Gac>Aac p.D36N ZNF623_ENST00000458270.2_5'UTR|ZNF623_ENST00000526926.1_5'UTR NM_014789.3 NP_055604.3 O75123 ZN623_HUMAN zinc finger protein 623 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3) 27 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GACGACGTCAGACAGACTCAC 0.502000 41 74 0 0 0.014410 0 0 ESRP1 54845 broad.mit.edu 37 8 95690463 95690463 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:95690463C>T ENST00000433389.2 + 13 1874 c.1684C>T c.(1684-1686)Cct>Tct p.P562S ESRP1_ENST00000423620.2_Missense_Mutation_p.P558S|ESRP1_ENST00000358397.5_Missense_Mutation_p.P558S|ESRP1_ENST00000454170.2_Missense_Mutation_p.P562S NM_001034915.2|NM_017697.3 NP_001030087.2|NP_060167.2 Q6NXG1 ESRP1_HUMAN epithelial splicing regulatory protein 1 562 mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2) 20 ATTTCCAGCTCCTGCTGCAGT 0.493000 24 81 0 0 0.004656 0 0 STX4 6810 broad.mit.edu 37 16 31049870 31049870 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:31049870G>A ENST00000394998.1 + 9 941 c.598G>A c.(598-600)Gag>Aag p.E200K STX4_ENST00000313843.3_Missense_Mutation_p.E202K|STX4_ENST00000493902.1_3'UTR NM_001272096.1 NP_001259025.1 Q12846 STX4_HUMAN syntaxin 4 202 Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology. intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole SNAP receptor activity NS(2)|breast(1)|large_intestine(3)|lung(3) 9 GGCCTTAAATGAGATCTCGGC 0.552000 20 55 0 0 0.014323 0 0 OXSR1 9943 broad.mit.edu 37 3 38266073 38266073 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:38266073G>A ENST00000311806.3 + 8 1086 c.714G>A c.(712-714)ctG>ctA p.L238L OXSR1_ENST00000446845.1_Silent_p.L238L NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 238 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) TTTTAATGCTGACACTGCAGA 0.343000 6 80 0 0 0.001984 0 0 ZNF514 84874 broad.mit.edu 37 2 95815860 95815860 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:95815860C>T ENST00000295208.2 - 5 832 c.370G>A c.(370-372)Gag>Aag p.E124K ZNF514_ENST00000411425.1_Missense_Mutation_p.E124K NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TGCTGCATCTCTAACTGGCCA 0.423000 40 82 0 0 0.006230 0 0 BDH1 622 broad.mit.edu 37 3 197259341 197259341 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:197259341G>A ENST00000392379.1 - 5 610 c.209C>T c.(208-210)tCa>tTa p.S70L BDH1_ENST00000441275.1_5'UTR|BDH1_ENST00000392378.2_Missense_Mutation_p.S70L|BDH1_ENST00000358186.2_Missense_Mutation_p.S70L NM_203314.2 NP_976059.1 Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase, type 1 70 S -> A (in Ref. 3; AAH11964). cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process mitochondrial matrix 3-hydroxybutyrate dehydrogenase activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437) Lung NSC(153;0.118) Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06) GBM - Glioblastoma multiforme(93;0.0977) NADH(DB00157) CTTGGCCAATGAGAACCCAAA 0.473000 10 42 0 0 0.013537 0 0 PRKDC 5591 broad.mit.edu 37 8 48719860 48719860 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:48719860C>G ENST00000314191.2 - 70 9638 c.9582G>C c.(9580-9582)gaG>gaC p.E3194D PRKDC_ENST00000338368.3_Missense_Mutation_p.E3194D|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 3195 FAT.|KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GGGTAAGCTTCTCCTCTATTT 0.423000 Non-homologous end-joining 46 127 0 0 0.014410 0 0 RFX5 5993 broad.mit.edu 37 1 151317305 151317305 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:151317305C>A ENST00000290524.4 - 6 430 c.252G>T c.(250-252)ctG>ctT p.L84L RFX5_ENST00000452671.2_Silent_p.L84L|RFX5_ENST00000452513.2_Intron|RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Silent_p.L84L NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 84 N-terminal domain. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTCATTGCTCAGTGTACTTG 0.463000 8 59 7.48243e-07 7.7865e-07 0.006214 1 0 SOCS5 9655 broad.mit.edu 37 2 46986870 46986870 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:46986870G>T ENST00000306503.5 + 2 1373 c.1201G>T c.(1201-1203)Ggc>Tgc p.G401C SOCS5_ENST00000394861.2_Missense_Mutation_p.G401C NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 401 SH2. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) GAAACCTGAAGGCACGTTTTT 0.527000 26 78 7.92952e-12 8.39803e-12 0.003954 1 0 NBPF22P 285622 broad.mit.edu 37 5 85578475 85578475 + RNA SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:85578475C>T ENST00000590707.1 + 0 198 NR_003719.2 TAATTGTCATCTCTCAGTCCT 0.413000 11 29 0 0 0.008291 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566241 27566241 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566241C>G ENST00000359541.2 - 2 610 c.181G>C c.(181-183)Gag>Cag p.E61Q GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 61 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGAATCCTCAAATCCAGGC 0.488000 5 260 0 0 0.004482 0 0 NDUFA3 4696 broad.mit.edu 37 19 54611809 54611809 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:54611809C>G ENST00000391764.3 + 4 236 c.226C>G c.(226-228)Cct>Gct p.P76A TFPT_ENST00000391758.1_Intron|TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391759.1_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) CCAAAGCTGTCCtggagccag 0.592000 13 29 0 0 0.002450 0 0 TCF21 6943 broad.mit.edu 37 6 134212923 134212923 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:134212923G>A ENST00000367882.4 + 2 783 c.523G>A c.(523-525)Gga>Aga p.G175R TCF21_ENST00000237316.3_Missense_Mutation_p.G175R|RP3-323P13.2_ENST00000607573.1_RNA NM_003206.3 NP_003197.2 O43680 TCF21_HUMAN transcription factor 21 175 branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 13 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) CCGCTTATGTGGAACCACCGC 0.657000 11 34 0 0 0.008291 0 0 MYH14 79784 broad.mit.edu 37 19 50721024 50721024 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:50721024G>T ENST00000440075.2 + 3 605 c.558G>T c.(556-558)ctG>ctT p.L186L MYH14_ENST00000262269.8_Silent_p.L186L|MYH14_ENST00000376970.2_Silent_p.L186L|MYH14_ENST00000425460.1_Silent_p.L186L|MYH14_ENST00000598205.1_Silent_p.L186L|MYH14_ENST00000601313.1_Silent_p.L186L|MYH14_ENST00000596571.1_Silent_p.L186L Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 186 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGAGCATGCTGCAGGGTGAGT 0.642000 29 57 7.01153e-11 7.38219e-11 0.007291 1 0 MYH13 8735 broad.mit.edu 37 17 10206785 10206785 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:10206785C>T ENST00000418404.3 - 37 5660 c.5497G>A c.(5497-5499)Gaa>Aaa p.E1833K MYH13_ENST00000252172.4_Missense_Mutation_p.E1833K|MYH13_ENST00000570743.1_Missense_Mutation_p.E1833K Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1833 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CTCTTCTGTTCCACATCAAGC 0.517000 74 106 0 0 0.014410 0 0 ZNF350 59348 broad.mit.edu 37 19 52468574 52468574 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:52468574C>G ENST00000243644.4 - 5 1359 c.1132G>C c.(1132-1134)Gaa>Caa p.E378Q HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 378 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) TTCCCACATTCACTACATTCA 0.433000 11 43 0 0 0.013537 0 0 ATG2A 23130 broad.mit.edu 37 11 64673226 64673226 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64673226G>A ENST00000421419.2 - 23 3473 c.3359C>T c.(3358-3360)tCt>tTt p.S1120F ATG2A_ENST00000377264.3_Missense_Mutation_p.S1120F Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1120 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 ATAGTCCACAGAGCAGGAGAA 0.632000 7 84 0 0 0.006214 0 0 PRPF40B 25766 broad.mit.edu 37 12 50029224 50029224 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:50029224G>A ENST00000261897.1 + 13 1710 c.1159G>A c.(1159-1161)Gat>Aat p.D387N PRPF40B_ENST00000380281.1_Missense_Mutation_p.D393N|PRPF40B_ENST00000548825.2_Missense_Mutation_p.D415N Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 393 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GGTTTATGATGATGTCCTCTT 0.512000 46 154 0 0 0.010771 0 0 AHDC1 27245 broad.mit.edu 37 1 27877465 27877465 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:27877465C>T ENST00000374011.2 - 6 2130 c.1162G>A c.(1162-1164)Gat>Aat p.D388N AHDC1_ENST00000247087.5_Missense_Mutation_p.D388N|AHDC1_ENST00000482400.2_5'UTR NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 388 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TTTGGCCTATCAGTGCGCCGC 0.716000 6 15 0 0 0.001168 0 0 RBM23 55147 broad.mit.edu 37 14 23371581 23371581 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:23371581G>T ENST00000359890.3 - 11 1136 c.941C>A c.(940-942)tCt>tAt p.S314Y RBM23_ENST00000555209.1_Missense_Mutation_p.S64Y|RBM23_ENST00000399922.2_Missense_Mutation_p.S298Y|RBM23_ENST00000542016.2_Missense_Mutation_p.S144Y|RBM23_ENST00000346528.5_Missense_Mutation_p.S280Y NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 314 RRM 2. mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) GGCACACTCAGAATCAGAGAA 0.532000 15 35 3.45872e-05 3.55287e-05 0.004007 1 0 TMEM214 54867 broad.mit.edu 37 2 27263361 27263361 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27263361G>A ENST00000238788.9 + 16 2002 c.1940G>A c.(1939-1941)tGc>tAc p.C647Y TMEM214_ENST00000404032.3_Missense_Mutation_p.C602Y NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 647 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 CATGAGGCATGCAGGTGAGAC 0.637000 5 56 0 0 0.001168 0 0 CATSPERG 57828 broad.mit.edu 37 19 38853162 38853162 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:38853162C>T ENST00000409235.3 + 19 2419 c.2304C>T c.(2302-2304)ttC>ttT p.F768F CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Silent_p.F728F NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 768 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 AGTACAGCTTCGCCATCTTCC 0.612000 9 54 0 0 0.008291 0 0 ABCB4 5244 broad.mit.edu 37 7 87072722 87072722 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:87072722C>T ENST00000265723.4 - 12 1380 c.1269G>A c.(1267-1269)caG>caA p.Q423Q ABCB4_ENST00000453593.1_Silent_p.Q423Q|ABCB4_ENST00000359206.3_Silent_p.Q423Q|ABCB4_ENST00000358400.3_Silent_p.Q423Q|ABCB4_ENST00000545634.1_Silent_p.Q423Q NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 423 ABC transporter 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GGGCCACCGTCTGCCCACTCT 0.493000 10 84 0 0 0.006214 0 0 FDPS 2224 broad.mit.edu 37 1 155279943 155279943 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:155279943G>A ENST00000356657.6 + 3 448 c.286G>A c.(286-288)Gag>Aag p.E96K FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000447866.1_Missense_Mutation_p.E30K|RP11-21N7.2_ENST00000429648.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.E96K NM_001135821.1 NP_001129293.1 P14324 FPPS_HUMAN farnesyl diphosphate synthase 96 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) GGTGCTGACTGAGGATGAGAT 0.512000 18 64 0 0 0.008871 0 0 ACSM2A 123876 broad.mit.edu 37 16 20487070 20487070 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:20487070G>A ENST00000573854.1 + 8 1187 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q ACSM2A_ENST00000417235.2_Missense_Mutation_p.R279Q|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R358Q|ACSM2A_ENST00000575690.1_Missense_Mutation_p.R358Q|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R130Q|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R358Q|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 358 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 CTGGACATCCGAGAATCCTAT 0.493000 27 245 0 0 0.006320 0 0 CD300A 11314 broad.mit.edu 37 17 72469964 72469964 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:72469964C>T ENST00000360141.3 + 2 618 c.330C>T c.(328-330)ctC>ctT p.L110L CD300A_ENST00000392625.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000361933.3_Intron NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 110 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CACCATGGCTCCGAGACTTTC 0.562000 12 109 0 0 0.002450 0 0 PCCA 5095 broad.mit.edu 37 13 100764110 100764110 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:100764110C>G ENST00000376285.1 + 3 237 c.199C>G c.(199-201)Ctt>Gtt p.L67V PCCA_ENST00000376279.3_Missense_Mutation_p.L67V|PCCA_ENST00000376286.4_Missense_Mutation_p.L41V NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 67 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) TGATAAAATTCTTGTTGCTAA 0.303000 9 24 0 0 0.008291 0 0 POM121L12 285877 broad.mit.edu 37 7 53103800 53103800 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:53103800C>T ENST00000408890.4 + 1 452 c.436C>T c.(436-438)Cgt>Tgt p.R146C NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 146 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GCCCCCTGAGCGTCAGGAGAG 0.711000 13 29 0 0 0.003163 0 0 FLT1 2321 broad.mit.edu 37 13 29001376 29001376 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:29001376C>A ENST00000282397.4 - 10 1607 c.1356G>T c.(1354-1356)ctG>ctT p.L452L FLT1_ENST00000541932.1_Silent_p.L452L|FLT1_ENST00000539099.1_Silent_p.L452L NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 452 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CGGTACAAGTCAGGATTTGTC 0.488000 18 61 9.16793e-09 9.59621e-09 0.004990 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73149386 73149386 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:73149386G>A ENST00000286657.4 - 22 3121 c.3085C>T c.(3085-3087)Caa>Taa p.Q1029* NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1029 PLAC. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACTTCCATTTGACAGAATATG 0.393000 25 63 0 0 0.007291 0 0 FOXP2 93986 broad.mit.edu 37 7 114329955 114329955 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:114329955G>A ENST00000408937.3 + 18 2571 c.2197G>A c.(2197-2199)Gag>Aag p.E733K FOXP2_ENST00000350908.4_Missense_Mutation_p.E708K|FOXP2_ENST00000403559.4_Missense_Mutation_p.E725K|FOXP2_ENST00000393498.2_Missense_Mutation_p.E687K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E616K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E523K|FOXP2_ENST00000393494.2_Missense_Mutation_p.E708K NM_001172766.2|NM_014491.3|NM_148898.3 NP_001166237.1|NP_055306.1|NP_683696.2 O15409 FOXP2_HUMAN forkhead box P2 708 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 GATTGAAGAAGAGCCTTTATC 0.438000 9 60 0 0 0.006214 0 0 POLL 27343 broad.mit.edu 37 10 103344383 103344383 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:103344383G>T ENST00000370162.3 - 5 1361 c.867C>A c.(865-867)ttC>ttA p.F289L POLL_ENST00000299206.4_Missense_Mutation_p.F289L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.S147Y|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.F289L|POLL_ENST00000370172.1_Missense_Mutation_p.F201L|POLL_ENST00000339310.3_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 289 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CAGGCTTATGGAAGCTCTTGA 0.562000 DNA polymerases (catalytic subunits) 14 51 1.05317e-09 1.10722e-09 0.002450 1 0 CRTAC1 55118 broad.mit.edu 37 10 99655057 99655057 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:99655057G>A ENST00000370597.3 - 11 1786 c.1431C>T c.(1429-1431)atC>atT p.I477I CRTAC1_ENST00000370591.2_Silent_p.I477I|CRTAC1_ENST00000298819.4_Silent_p.I477I NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 477 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) AGCCCCCGTCGATGATCCTCA 0.632000 18 36 0 0 0.007413 0 0 ROBO2 6092 broad.mit.edu 37 3 77666728 77666728 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:77666728G>C ENST00000461745.1 + 22 4258 c.3358G>C c.(3358-3360)Gat>Cat p.D1120H ROBO2_ENST00000332191.8_Missense_Mutation_p.D1120H|ROBO2_ENST00000487694.3_Missense_Mutation_p.D1136H|ROBO2_ENST00000469233.1_3'UTR NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1120 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AGGTCTGGAAGATGAACTGGA 0.458000 31 84 0 0 0.004289 0 0 ADAM7 8756 broad.mit.edu 37 8 24356805 24356805 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:24356805C>T ENST00000175238.6 + 17 1982 c.1899C>T c.(1897-1899)tgC>tgT p.C633C RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Silent_p.C633C|ADAM7_ENST00000520720.1_Silent_p.C405C|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 633 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAACCAATTGCCCCTCTCAGT 0.348000 3 46 0 0 0.004672 0 0 SNTB1 6641 broad.mit.edu 37 8 121823639 121823639 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:121823639C>T ENST00000395601.3 - 2 859 c.445G>A c.(445-447)Gac>Aac p.D149N SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.D149N NM_021021.3 NP_066301.1 Q13884 SNTB1_HUMAN syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 149 PDZ.|PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6) 24 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) TGGGTCTGGTCCGCCGCCAGC 0.657000 22 88 0 0 0.012319 0 0 SPTBN1 6711 broad.mit.edu 37 2 54852072 54852072 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:54852072G>A ENST00000333896.5 + 10 1660 c.1275G>A c.(1273-1275)ctG>ctA p.L425L SPTBN1_ENST00000356805.4_Silent_p.L438L NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 438 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGACTTGGCTGAGCGAAAACC 0.488000 6 102 0 0 0.001984 0 0 C3orf58 205428 broad.mit.edu 37 3 143691432 143691432 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:143691432C>G ENST00000315691.3 + 1 793 c.258C>G c.(256-258)ctC>ctG p.L86L NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 86 COPI vesicle coat|extracellular region breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGGACTTCCTCAACGTGAAGA 0.697000 7 48 0 0 0.001984 0 0 GPR110 266977 broad.mit.edu 37 6 46977332 46977332 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977332C>A ENST00000371253.2 - 11 2054 c.1839G>T c.(1837-1839)caG>caT p.Q613H GPR110_ENST00000283297.5_Missense_Mutation_p.Q416H|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 613 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TTTTTTTAATCTGCTTCCAAA 0.443000 10 50 3.86212e-05 3.95591e-05 0.008291 1 0 ZNF514 84874 broad.mit.edu 37 2 95818421 95818421 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:95818421G>A ENST00000295208.2 - 4 677 c.215C>T c.(214-216)tCa>tTa p.S72L ZNF514_ENST00000411425.1_Missense_Mutation_p.S72L NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 72 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TCACTCACCTGAGTGGGCTCC 0.522000 54 150 0 0 0.014410 0 0 BRD2 6046 broad.mit.edu 37 6 32942323 32942323 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:32942323C>T ENST00000395289.2 + 3 1715 c.114C>T c.(112-114)ctC>ctT p.L38L BRD2_ENST00000374831.4_Silent_p.L38L|BRD2_ENST00000395287.1_Silent_p.L38L|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000449085.2_5'UTR|BRD2_ENST00000374825.4_Silent_p.L38L P25440 BRD2_HUMAN bromodomain containing 2 38 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AACCCTCTCTCTTGTATGAGG 0.582000 10 80 0 0 0.006214 0 0 COQ10A 93058 broad.mit.edu 37 12 56664084 56664084 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:56664084G>C ENST00000308197.5 + 5 988 c.727G>C c.(727-729)Gag>Cag p.E243Q COQ10A_ENST00000433805.2_Missense_Mutation_p.E211Q|COQ10A_ENST00000546544.1_Missense_Mutation_p.E226Q NM_144576.3 NP_653177.3 Q96MF6 CQ10A_HUMAN coenzyme Q10 homolog A (S. cerevisiae) 243 mitochondrial inner membrane cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 8 GATGTTCCATGAGGTGCACCA 0.498000 31 96 0 0 0.009535 0 0 DUOXA1 90527 broad.mit.edu 37 15 45415129 45415129 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:45415129G>A ENST00000558996.1 - 2 138 c.84C>T c.(82-84)atC>atT p.I28I DUOXA1_ENST00000560572.1_Silent_p.I28I|DUOXA1_ENST00000430224.2_Silent_p.I28I|DUOXA1_ENST00000267803.4_Silent_p.I28I|DUOXA1_ENST00000559014.1_Silent_p.I28I|DUOXA1_ENST00000558422.1_Silent_p.I28I NM_001276267.1|NM_001276268.1 NP_001263196.1|NP_001263197.1 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 28 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) GAAAGATCATGATGATGCTGG 0.562000 30 62 0 0 0.009535 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200801916 200801916 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:200801916G>A ENST00000358823.2 + 6 1140 c.870G>A c.(868-870)ttG>ttA p.L290L CAMSAP2_ENST00000236925.4_Silent_p.L301L|CAMSAP2_ENST00000413307.2_Silent_p.L290L NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 301 CH. cytoplasm|microtubule protein binding AAGAATACTTGAACCAGTGTT 0.323000 19 74 0 0 0.010504 0 0 YIPF3 25844 broad.mit.edu 37 6 43480834 43480834 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:43480834G>A ENST00000372422.2 - 6 821 c.639C>T c.(637-639)atC>atT p.I213I YIPF3_ENST00000506469.1_Silent_p.I219I NM_015388.3 NP_056203.2 Q9GZM5 YIPF3_HUMAN Yip1 domain family, member 3 213 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) GCAGCATGGTGATCTGGGCGT 0.562000 52 154 0 0 0.014410 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 77 0 0 0.008291 0 0 ADA 100 broad.mit.edu 37 20 43251500 43251500 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:43251500G>A ENST00000372874.4 - 8 884 c.750C>T c.(748-750)aaC>aaT p.N250N ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Silent_p.N226N|PKIG_ENST00000372882.3_Intron NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 250 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) GCCGCAGCCTGTTATAAAGGG 0.557000 Adenosine Deaminase Deficiency 27 133 0 0 0.006320 0 0 PKM 5315 broad.mit.edu 37 15 72499611 72499611 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:72499611C>T ENST00000319622.6 - 7 1300 c.844G>A c.(844-846)Gaa>Aaa p.E282K PKM_ENST00000389093.3_Missense_Mutation_p.E282K|PKM_ENST00000565154.1_Missense_Mutation_p.E282K|PKM_ENST00000565184.1_Missense_Mutation_p.E282K|PKM_ENST00000335181.5_Missense_Mutation_p.E282K|PKM_ENST00000568883.1_Missense_Mutation_p.E117K|PKM_ENST00000449901.2_Missense_Mutation_p.E267K|PKM_ENST00000568459.1_Missense_Mutation_p.E282K NM_001206796.1|NM_182470.2|NM_182471.2 NP_001193725.1|NP_872270.1|NP_872271.1 pyruvate kinase, muscle endometrium(1)|lung(7) 8 TCCAGGATTTCATCAAACCTG 0.478000 15 46 0 0 0.004007 0 0 ZNF484 83744 broad.mit.edu 37 9 95610741 95610741 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:95610741C>T ENST00000395505.2 - 3 312 c.220G>A c.(220-222)Gac>Aac p.D74N ZNF484_ENST00000375495.3_Missense_Mutation_p.D110N|ZNF484_ENST00000395506.3_Missense_Mutation_p.D112N|ZNF484_ENST00000332591.6_Missense_Mutation_p.D74N|ANKRD19P_ENST00000473204.1_RNA NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 110 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 GAATATGGGTCATCTCTTGTG 0.353000 39 110 0 0 0.007835 0 0 XPOT 11260 broad.mit.edu 37 12 64813889 64813889 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:64813889G>A ENST00000332707.5 + 7 1058 c.529G>A c.(529-531)Gaa>Aaa p.E177K NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 177 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TACCATGAGGGAACAGTGCAT 0.363000 23 46 0 0 0.002780 0 0 NFATC3 4775 broad.mit.edu 37 16 68160439 68160439 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:68160439C>T ENST00000349223.5 + 3 1551 c.1327C>T c.(1327-1329)Cat>Tat p.H443Y NFATC3_ENST00000575270.1_Missense_Mutation_p.H443Y|NFATC3_ENST00000346183.3_Missense_Mutation_p.H443Y|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.H443Y NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 443 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) TAAAACTCATCATCGAGCCCA 0.433000 33 71 0 0 0.013726 0 0 C3orf20 84077 broad.mit.edu 37 3 14769987 14769987 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:14769987G>A ENST00000253697.3 + 12 2184 c.1732G>A c.(1732-1734)Gaa>Aaa p.E578K C3orf20_ENST00000412910.1_Missense_Mutation_p.E456K|C3orf20_ENST00000435614.1_Missense_Mutation_p.E456K NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 578 Poly-Glu. 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 GGAGGAGGAAGAATTTGTTCG 0.473000 23 94 0 0 0.003330 0 0 NOL8 55035 broad.mit.edu 37 9 95077643 95077643 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:95077643C>T ENST00000545558.1 - 7 1756 c.1264G>A c.(1264-1266)Gat>Aat p.D422N NOL8_ENST00000358855.4_Missense_Mutation_p.D354N|NOL8_ENST00000542053.1_Missense_Mutation_p.D354N|NOL8_ENST00000535387.1_Missense_Mutation_p.D422N|NOL8_ENST00000442668.2_Missense_Mutation_p.D422N Q76FK4 NOL8_HUMAN nucleolar protein 8 422 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 ATACAGTGATCAGAAAGCTCA 0.333000 7 30 0 0 0.001984 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43653641 43653641 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:43653641C>T ENST00000396976.2 - 5 2323 c.2189G>A c.(2188-2190)gGa>gAa p.G730E ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.G340E|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.G341E NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 730 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) AGGTTTCTCTCCTGTGTGGAT 0.433000 15 59 0 0 0.002450 0 0 ZAN 7455 broad.mit.edu 37 7 100350144 100350144 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:100350144G>A ENST00000542585.1 + 0 2564 ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CACCCCCACTGAGGAGACCAC 0.527000 9 74 0 0 0.004482 0 0 NUP205 23165 broad.mit.edu 37 7 135289087 135289087 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:135289087G>C ENST00000285968.6 + 19 2728 c.e19-1 NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTTCTTTAAAGATACCTATAT 0.348000 7 23 0 0 0.004482 0 0 FAM129A 116496 broad.mit.edu 37 1 184787891 184787891 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:184787891C>G ENST00000367511.3 - 9 1247 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q FAM129A_ENST00000487074.1_5'UTR NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 352 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ATGAGCTCCTCCAGGATGGAT 0.527000 28 189 0 0 0.006320 0 0 ITPR1 3708 broad.mit.edu 37 3 4725457 4725457 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:4725457G>C ENST00000302640.8 + 27 3778 c.3428G>C c.(3427-3429)gGa>gCa p.G1143A ITPR1_ENST00000357086.4_Missense_Mutation_p.G1149A|ITPR1_ENST00000456211.2_Missense_Mutation_p.G1134A|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.G1149A|ITPR1_ENST00000443694.2_Missense_Mutation_p.G1143A|ITPR1_ENST00000354582.6_Missense_Mutation_p.G1158A NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1158 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGTGCATCTGGAGAAAATGAA 0.473000 19 44 0 0 0.008871 0 0 SENP6 26054 broad.mit.edu 37 6 76407199 76407199 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:76407199G>C ENST00000370014.3 + 18 2873 c.2254G>C c.(2254-2256)Gag>Cag p.E752Q SENP6_ENST00000447266.2_Missense_Mutation_p.E752Q|SENP6_ENST00000370010.2_Missense_Mutation_p.E745Q|SENP6_ENST00000541192.1_Missense_Mutation_p.E348Q NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 752 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) AGATATTTTTGAGAAGGATTT 0.303000 10 25 0 0 0.010729 0 0 PLXDC1 57125 broad.mit.edu 37 17 37264415 37264415 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:37264415C>T ENST00000315392.4 - 5 764 c.553G>A c.(553-555)Ggc>Agc p.G185S PLXDC1_ENST00000394316.2_Missense_Mutation_p.G185S|PLXDC1_ENST00000539608.1_Missense_Mutation_p.G112S|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.G145S NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 185 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 TCGGAGTAGCCAGGGTTGAAG 0.522000 51 107 0 0 0.014410 0 0 OR13C3 138803 broad.mit.edu 37 9 107298345 107298345 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:107298345G>A ENST00000374781.2 - 1 792 c.750C>T c.(748-750)ttC>ttT p.F250F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 TGTAGAGGATGAACATATAGG 0.428000 37 81 0 0 0.005524 0 0 CXADR 1525 broad.mit.edu 37 21 18931416 18931416 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:18931416G>A ENST00000284878.7 + 4 1286 c.538G>A c.(538-540)Gac>Aac p.D180N CXADR_ENST00000306618.10_Missense_Mutation_p.D180N|CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.D180N|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400166.1_Missense_Mutation_p.D180N NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 180 Ig-like C2-type 2. blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) AAAATTGTCTGACTCACAGAA 0.383000 18 68 0 0 0.008871 0 0 NAMPT 10135 broad.mit.edu 37 7 105893498 105893498 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:105893498C>G ENST00000222553.3 - 10 1637 c.1330G>C c.(1330-1332)Gag>Cag p.E444Q NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 444 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 TTTCCTTCCTCCAGTGTAACA 0.408000 10 55 0 0 0.013537 0 0 TRGC2 6967 broad.mit.edu 37 7 38288908 38288908 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:38288908G>A ENST00000436911.2 - 0 265 CATGTCTGACGATACATCTGT 0.393000 38 103 0 0 0.003755 0 0 EVX2 344191 broad.mit.edu 37 2 176948129 176948129 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:176948129G>A ENST00000308618.4 - 1 512 c.376C>T c.(376-378)Cgc>Tgc p.R126C NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 126 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CCGGGGGAGCGAAGCGCGGAG 0.682000 6 13 0 0 0.001168 0 0 ZNF80 7634 broad.mit.edu 37 3 113955429 113955429 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:113955429C>G ENST00000482457.2 - 1 996 c.493G>C c.(493-495)Gaa>Caa p.E165Q NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 165 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) TTTCCACATTCTTTGCACCCA 0.488000 17 156 0 0 0.006122 0 0 DOCK6 57572 broad.mit.edu 37 19 11354276 11354276 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:11354276C>T ENST00000294618.7 - 11 1226 c.1215G>A c.(1213-1215)gtG>gtA p.V405V NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 405 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 CAGCGCTGCTCACGATGTTGG 0.692000 OREG0025252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 17 0 0 0.001168 0 0 PAH 5053 broad.mit.edu 37 12 103248921 103248921 + Silent SNP G G A rs62517208 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:103248921G>A ENST00000553106.1 - 6 1171 c.699C>T c.(697-699)ttC>ttT p.F233F PAH_ENST00000307000.2_Silent_p.F228F NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 233 F -> L (in PKU; haplotypes 2,3). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TACTCTGCAGGAACTGAGAAA 0.488000 17 48 0 0 0.006122 0 0 FAM118B 79607 broad.mit.edu 37 11 126110786 126110786 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:126110786C>G ENST00000533050.1 + 4 679 c.186C>G c.(184-186)ctC>ctG p.L62L FAM118B_ENST00000360194.4_Silent_p.L62L|FAM118B_ENST00000525728.1_3'UTR NM_024556.3 NP_078832.1 Q9BPY3 F118B_HUMAN family with sequence similarity 118, member B 62 breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1) 13 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784) TTCCAGCCCTCAAATCCTGGA 0.453000 74 256 0 0 0.014410 0 0 ACACB 32 broad.mit.edu 37 12 109577263 109577263 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:109577263C>G ENST00000338432.7 + 2 172 c.53C>G c.(52-54)tCc>tGc p.S18C ACACB_ENST00000377854.5_Missense_Mutation_p.S18C|ACACB_ENST00000377848.3_Missense_Mutation_p.S18C O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 18 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CTGACCTTTTCCTGGTTAAAA 0.433000 10 91 0 0 0.010729 0 0 SYT1 6857 broad.mit.edu 37 12 79689973 79689973 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:79689973G>T ENST00000261205.4 + 7 1256 c.599G>T c.(598-600)cGa>cTa p.R200L SYT1_ENST00000393240.3_Missense_Mutation_p.R200L|SYT1_ENST00000457153.2_Missense_Mutation_p.R197L|SYT1_ENST00000552744.1_Missense_Mutation_p.R200L NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 200 C2 1.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 AAAGTCCACCGAAAAACCCTT 0.383000 22 60 1.10923e-09 1.16445e-09 0.002780 1 0 ARFGEF1 10565 broad.mit.edu 37 8 68165736 68165736 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:68165736G>A ENST00000262215.3 - 18 3037 c.2648C>T c.(2647-2649)tCa>tTa p.S883L ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S337L NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 883 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTCTTTCATTGATATCTTTTT 0.308000 6 62 0 0 0.001984 0 0 ATXN7 6314 broad.mit.edu 37 3 63973786 63973786 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:63973786G>C ENST00000398590.3 + 9 1700 c.1147G>C c.(1147-1149)Gat>Cat p.D383H ATXN7_ENST00000295900.6_Missense_Mutation_p.D383H|ATXN7_ENST00000484332.1_Missense_Mutation_p.D238H|ATXN7_ENST00000538065.1_Missense_Mutation_p.D383H|ATXN7_ENST00000487717.1_Missense_Mutation_p.D383H NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 383 SCA7. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) AAAACGATTTGATGTGTTATT 0.458000 74 201 0 0 0.014410 0 0 IPO8 10526 broad.mit.edu 37 12 30783892 30783892 + Splice_Site SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:30783892C>G ENST00000256079.4 - 25 3355 c.e25-1 IPO8_ENST00000544829.1_Splice_Site NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) TTCTTTGCCTCTAGCATTTTT 0.398000 18 42 0 0 0.006122 0 0 CYP1A2 1544 broad.mit.edu 37 15 75047131 75047131 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:75047131G>C ENST00000343932.4 + 7 1316 c.e7-1 NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TCCTCTTGCAGAGAGCTGTGG 0.592000 18 112 0 0 0.008871 0 0 ITIH2 3698 broad.mit.edu 37 10 7769773 7769773 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:7769773G>C ENST00000358415.4 + 11 1427 c.1261G>C c.(1261-1263)Gat>Cat p.D421H ITIH2_ENST00000379587.4_Missense_Mutation_p.D410H NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 421 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTTGGTTTCTGATGGAGATCC 0.453000 15 47 0 0 0.004007 0 0 PXDNL 137902 broad.mit.edu 37 8 52284541 52284541 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:52284541G>A ENST00000356297.4 - 19 3893 c.3793C>T c.(3793-3795)Cag>Tag p.Q1265* PXDNL_ENST00000543296.1_Nonsense_Mutation_p.Q1265* NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1265 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGCACTTGCTGAATGCTGTCA 0.532000 5 26 0 0 0.000602 0 0 BRAF 673 broad.mit.edu 37 7 140453110 140453110 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:140453110G>C ENST00000288602.6 - 15 1885 c.1825C>G c.(1825-1827)Cag>Gag p.Q609E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 609 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TGTTCAAACTGATGGGACCCA 0.393000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 10 52 0 0 0.008291 0 0 HMGCR 3156 broad.mit.edu 37 5 74646146 74646146 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:74646146G>A ENST00000287936.4 + 8 883 c.727G>A c.(727-729)Gaa>Aaa p.E243K HMGCR_ENST00000343975.5_Missense_Mutation_p.E243K|HMGCR_ENST00000511206.1_Missense_Mutation_p.E243K NM_000859.2 NP_000850.1 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-CoA reductase 243 cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 20 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) CCGAGTTTTAGAAGAAGAAGA 0.413000 5 65 0 0 0.000602 0 0 IQSEC3 440073 broad.mit.edu 37 12 278251 278251 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:278251C>T ENST00000538872.1 + 12 3162 c.3044C>T c.(3043-3045)tCa>tTa p.S1015L RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S1015L|IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000382841.2_Missense_Mutation_p.S712L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1015 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) GACCCACAGTCAAAGCAAGGA 0.642000 32 64 0 0 0.008361 0 0 HLA-A 3105 broad.mit.edu 37 6 29910683 29910683 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:29910683T>C ENST00000396634.1 + 4 564 c.223T>C c.(223-225)Tgg>Cgg p.W75R HLA-A_ENST00000376809.5_Missense_Mutation_p.W75R|HLA-A_ENST00000376802.2_Missense_Mutation_p.W75R|HLA-A_ENST00000376806.5_Missense_Mutation_p.W75R P30443 1A01_HUMAN major histocompatibility complex, class I, A 75 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 GCGGGCGCCGTGGATAGAGCA 0.677000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 11 16 0 0 0.002450 0 0 TNFRSF11B 4982 broad.mit.edu 37 8 119940992 119940992 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:119940992G>C ENST00000297350.4 - 3 955 c.577C>G c.(577-579)Caa>Gaa p.Q193E NM_002546.3 NP_002537.3 O00300 TR11B_HUMAN tumor necrosis factor receptor superfamily, member 11b 193 apoptosis|skeletal system development cytokine activity|receptor activity breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1) 25 all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234) STAD - Stomach adenocarcinoma(47;0.00193) CCACATTTTTGAGTTGATTCA 0.393000 4 200 0 0 0.000602 0 0 C9orf116 138162 broad.mit.edu 37 9 138391608 138391608 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:138391608C>G ENST00000371789.3 - 1 756 c.90G>C c.(88-90)gtG>gtC p.V30V C9orf116_ENST00000429260.2_Silent_p.V30V|C9orf116_ENST00000371791.1_Silent_p.V30V Q5BN46 CI116_HUMAN chromosome 9 open reading frame 116 30 OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05) GGTCCGCGCTCACGCGGTAGT 0.697000 3 19 0 0 0.004672 0 0 ABCA4 24 broad.mit.edu 37 1 94528713 94528713 + Missense_Mutation SNP C C T rs61748559 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:94528713C>T ENST00000370225.3 - 12 1801 c.1715G>A c.(1714-1716)cGa>cAa p.R572Q ABCA4_ENST00000535735.1_Missense_Mutation_p.R572Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 572 R -> P (in STGD1).|R -> Q (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TATGTCCATTCGGATCTTATA 0.473000 58 148 0 0 0.014410 0 0 OSCAR 126014 broad.mit.edu 37 19 54600369 54600369 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:54600369C>G ENST00000284648.6 - 4 350 c.153G>C c.(151-153)ttG>ttC p.L51F OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000351806.4_Missense_Mutation_p.L40F|OSCAR_ENST00000358375.4_Missense_Mutation_p.L51F|OSCAR_ENST00000391761.1_Missense_Mutation_p.L40F|OSCAR_ENST00000356532.3_Missense_Mutation_p.L55F|OSCAR_ENST00000359649.4_Missense_Mutation_p.L55F Q8IYS5 OSCAR_HUMAN osteoclast associated, immunoglobulin-like receptor 51 Ig-like 1. extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(1)|skin(1) 2 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) CCCGGCATCTCAAGGTCACGT 0.592000 28 122 0 0 0.008361 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122962395 122962395 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:122962395G>A ENST00000543897.1 - 11 2979 c.624C>T c.(622-624)ctC>ctT p.L208L ZCCHC8_ENST00000336229.4_Silent_p.L446L|ZCCHC8_ENST00000536306.1_Silent_p.L208L|ZCCHC8_ENST00000538116.1_Silent_p.L57L Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 446 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TACCTGAATCGAGCTCCATGT 0.463000 14 43 0 0 0.001855 0 0 ICAM5 7087 broad.mit.edu 37 19 10402810 10402810 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10402810C>T ENST00000221980.4 + 4 836 c.773C>T c.(772-774)tCa>tTa p.S258L NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 258 Ig-like C2-type 3. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TTTCCAGCCTCAGAGGCCAGG 0.647000 6 111 0 0 0.001168 0 0 BNC1 646 broad.mit.edu 37 15 83932315 83932315 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:83932315G>A ENST00000345382.2 - 4 1773 c.1688C>T c.(1687-1689)tCa>tTa p.S563L BNC1_ENST00000569704.1_Missense_Mutation_p.S556L|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 563 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GTCTTCATCTGAGCTGAGGTT 0.478000 25 174 0 0 0.008361 0 0 ZFP1 162239 broad.mit.edu 37 16 75203755 75203755 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:75203755C>T ENST00000393430.2 + 4 871 c.747C>T c.(745-747)ttC>ttT p.F249F ZFP1_ENST00000570010.1_Silent_p.F249F|ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.F216F Q6P2D0 ZFP1_HUMAN ZFP1 zinc finger protein 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 12 GAAAAGCTTTCACCCACCAGT 0.443000 28 59 0 0 0.009535 0 0 MEX3D 399664 broad.mit.edu 37 19 1556393 1556393 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:1556393C>G ENST00000402693.4 - 2 1124 c.1125G>C c.(1123-1125)aaG>aaC p.K375N MEX3D_ENST00000388824.6_Missense_Mutation_p.K375N NM_203304.3 NP_976049.3 Q86XN8 MEX3D_HUMAN mex-3 RNA binding family member D 375 mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis nucleus|perinuclear region of cytoplasm AU-rich element binding|zinc ion binding endometrium(1)|lung(3) 4 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GGTTGGGGGTCTTGGCCCAGA 0.776000 3 9 0 0 0.009096 0 0 MYBL1 4603 broad.mit.edu 37 8 67504755 67504755 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:67504755C>T ENST00000522677.3 - 8 1197 c.787G>A c.(787-789)Gat>Aat p.D263N MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.D263N NM_001080416.2|NM_001144755.1 NP_001073885.1|NP_001138227.1 P10243 MYBA_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 1 263 Transcriptional activation domain (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1) 25 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) TTTTCCTTATCAGGATCTTCA 0.284000 6 89 0 0 0.001168 0 0 ZSCAN30 100101467 broad.mit.edu 37 18 32843968 32843968 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:32843968C>G ENST00000420878.3 - 3 804 c.349G>C c.(349-351)Gag>Cag p.E117Q ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E117Q|ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000601405.1_Intron|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E117Q|ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E117Q|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E117Q NM_001166012.1 NP_001159484.1 Q86W11 ZSC30_HUMAN zinc finger and SCAN domain containing 30 117 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|lung(3)|urinary_tract(1) 9 ACAGCTTCCTCTCCATTCTCT 0.498000 11 70 0 0 0.010729 0 0 OR13D1 286365 broad.mit.edu 37 9 107456838 107456838 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:107456838C>G ENST00000318763.5 + 1 179 c.136C>G c.(136-138)Ctg>Gtg p.L46V NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 TGAATTCTTTCTGGTGGGGCT 0.438000 27 69 0 0 0.004656 0 0 NEURL2 140825 broad.mit.edu 37 20 44517447 44517447 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:44517447C>A ENST00000372518.4 - 2 1103 c.808G>T c.(808-810)Gat>Tat p.D270Y NM_001278535.1|NM_080749.2 NP_001265464.1|NP_542787.1 Q9BR09 NEUL2_HUMAN neuralized E3 ubiquitin protein ligase 2 270 SOCS box. intracellular signal transduction large_intestine(1)|lung(2) 3 Myeloproliferative disorder(115;0.0122) TGGAGCCCATCAATGGCCAGC 0.542000 5 73 0.000602214 0.000614207 0.000602 1 0 SEC24D 9871 broad.mit.edu 37 4 119736304 119736304 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:119736304G>C ENST00000379735.5 - 6 954 c.683C>G c.(682-684)tCt>tGt p.S228C SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.S227C NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 227 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CTGGGGACCAGAGTTGGCTGC 0.498000 20 64 0 0 0.010504 0 0 ZNF625 90589 broad.mit.edu 37 19 12256165 12256165 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:12256165C>T ENST00000355738.1 - 4 1217 c.868G>A c.(868-870)Gaa>Aaa p.E290K ZNF625_ENST00000542938.1_Missense_Mutation_p.E290K|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.E356K Q96I27 ZN625_HUMAN zinc finger protein 625 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2) 14 CAGGGTTTTTCTCCAGTGTGA 0.428000 39 72 0 0 0.004878 0 0 MICAL2 9645 broad.mit.edu 37 11 12263802 12263802 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:12263802C>G ENST00000256194.4 + 19 2667 c.2379C>G c.(2377-2379)ctC>ctG p.L793L MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Silent_p.L793L NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 793 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) TCAGAGAGCTCAAGCAAGTGT 0.562000 10 29 0 0 0.008291 0 0 BAD 572 broad.mit.edu 37 11 64037697 64037697 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64037697G>A ENST00000394532.3 - 3 761 c.491C>T c.(490-492)tCc>tTc p.S164F BAD_ENST00000544785.1_Silent_p.L100L|BAD_ENST00000309032.3_Missense_Mutation_p.S164F NM_004322.3 NP_004313.1 Q92934 BAD_HUMAN BCL2-associated agonist of cell death 164 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 GGAGGGGGCGGAGCTTCCCCT 0.637000 11 42 0 0 0.013537 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19764535 19764535 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:19764535C>T ENST00000397821.3 - 3 477 c.187G>A c.(187-189)Gac>Aac p.D63N SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D26N|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D63N NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 63 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GTGAGAGGGTCTTTCTTCATC 0.403000 54 51 0 0 0.014410 0 0 ACACB 32 broad.mit.edu 37 12 109629726 109629726 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:109629726C>T ENST00000338432.7 + 15 2489 c.2370C>T c.(2368-2370)tgC>tgT p.C790C ACACB_ENST00000377854.5_Silent_p.C790C|ACACB_ENST00000377848.3_Silent_p.C790C O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 790 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TCAGAACGTGCATGACAGATT 0.517000 6 76 0 0 0.001168 0 0 CPB2 1361 broad.mit.edu 37 13 46629983 46629983 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:46629983G>C ENST00000181383.4 - 10 1017 c.999_splice c.e10-1 p.S334_splice CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Splice_Site_p.S297_splice NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 334 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GGCTACTAGAGACTGGAAGCA 0.333000 16 72 0 0 0.010504 0 0 NAP1L3 4675 broad.mit.edu 37 X 92927287 92927287 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:92927287G>C ENST00000373079.3 - 1 1280 c.1017C>G c.(1015-1017)ttC>ttG p.F339L NAP1L3_ENST00000475430.1_5'UTR NM_004538.5 NP_004529.2 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 339 nucleosome assembly chromatin assembly complex haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 34 CATCCGACAAGAACTTCAGAA 0.423000 14 27 0 0 0.003163 0 0 NT5DC2 64943 broad.mit.edu 37 3 52559068 52559068 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:52559068C>G ENST00000307076.4 - 12 1547 c.1147G>C c.(1147-1149)Gag>Cag p.E383Q NT5DC2_ENST00000422318.2_Missense_Mutation_p.E420Q|NT5DC2_ENST00000459839.1_Missense_Mutation_p.E395Q|NT5DC2_ENST00000307092.4_Missense_Mutation_p.E324Q NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 383 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) ATCTCACGCTCCAGCTCGGGG 0.682000 3 14 0 0 0.004672 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68707045 68707045 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:68707045G>A ENST00000255078.3 + 15 2939 c.2828G>A c.(2827-2829)aGa>aAa p.R943K NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 943 cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCCCGGCAGAGAATCAGCCGG 0.642000 16 60 0 0 0.004990 0 0 TCHH 7062 broad.mit.edu 37 1 152079998 152079998 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:152079998C>T ENST00000368804.1 - 2 5694 c.5695G>A c.(5695-5697)Ggg>Agg p.G1899R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1899 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTATCTCCCCGACTTGGCGG 0.582000 27 105 0 0 0.006320 0 0 STK38 11329 broad.mit.edu 37 6 36475338 36475338 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:36475338C>T ENST00000229812.7 - 8 996 c.711G>A c.(709-711)ctG>ctA p.L237L NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 237 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GTGCTTTTTTCAGTCCTGTGC 0.408000 92 176 0 0 0.014410 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975904 76975904 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:76975904C>G ENST00000409911.1 - 3 1916 c.1693G>C c.(1693-1695)Gag>Cag p.E565Q LRRTM4_ENST00000409093.1_Missense_Mutation_p.E564Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.E564Q NM_001134745.1 NP_001128217.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 564 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CGGCCCAGCTCCAGGCCGGGG 0.602000 32 121 0 0 0.003755 0 0 GCNT4 51301 broad.mit.edu 37 5 74324700 74324700 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:74324700C>T ENST00000322348.4 - 1 2024 c.1163G>A c.(1162-1164)cGa>cAa p.R388Q NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 388 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) ACACACGCTTCGAAGGTGAGA 0.418000 24 64 0 0 0.009535 0 0 S100A2 6273 broad.mit.edu 37 1 153533966 153533966 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:153533966G>A ENST00000368708.3 - 3 615 c.243C>T c.(241-243)ctC>ctT p.L81L S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368710.1_Silent_p.L81L|S100A2_ENST00000497140.1_Silent_p.L48L|S100A2_ENST00000487430.2_Silent_p.L81L|S100A2_ENST00000368709.1_Silent_p.L81L NM_005978.3 NP_005969.1 P29034 S10A2_HUMAN S100 calcium binding protein A2 82 EF-hand 2. endothelial cell migration calcium ion binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGACAGTGATGAGTGCCAGGA 0.542000 4 184 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179611231 179611231 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:179611231G>A ENST00000360870.5 - 46 16118 c.15896C>T c.(15895-15897)aCc>aTc p.T5299I TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8817 Ig-like 33. 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) TGATGATGTGGTGTGTTCCAA 0.408000 13 34 0 0 0.013537 0 0 DIP2C 22982 broad.mit.edu 37 10 436786 436786 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:436786C>G ENST00000280886.6 - 11 1365 c.1278G>C c.(1276-1278)caG>caC p.Q426H DIP2C_ENST00000381496.3_Missense_Mutation_p.Q319H NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 426 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AGAAACCTATCTGCTGGCTCC 0.572000 34 121 0 0 0.003271 0 0 EMD 2010 broad.mit.edu 37 X 153608306 153608306 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:153608306G>C ENST00000369842.4 + 3 480 c.192G>C c.(190-192)ttG>ttC p.L64F EMD_ENST00000369835.3_Missense_Mutation_p.L29F|EMD_ENST00000492448.1_3'UTR NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 64 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATCCAGACTTGAATTCGACTA 0.567000 69 100 0 0 0.014410 0 0 DEPDC4 120863 broad.mit.edu 37 12 100657384 100657384 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:100657384C>A ENST00000416321.1 - 2 447 c.445G>T c.(445-447)Gaa>Taa p.E149* NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 149 DEP. intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 TCTTCAAATTCTAATTCCTTT 0.338000 27 51 2.44723e-14 2.60723e-14 0.004656 1 0 DYNC2H1 79659 broad.mit.edu 37 11 103047052 103047052 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:103047052G>C ENST00000375735.2 + 37 5907 c.5763G>C c.(5761-5763)ctG>ctC p.L1921L DYNC2H1_ENST00000398093.3_Silent_p.L1921L|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 1921 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TTGATGCACTGATAAAAGATG 0.363000 5 18 0 0 0.001168 0 0 TRIB2 28951 broad.mit.edu 37 2 12858450 12858450 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:12858450C>G ENST00000155926.4 + 1 1436 c.17C>G c.(16-18)tCt>tGt p.S6C TRIB2_ENST00000405331.3_Missense_Mutation_p.S6C|TRIB2_ENST00000381465.2_Intron NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 6 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATACACAGGTCTACCCCCATC 0.537000 OREG0014450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 62 0 0 0.001984 0 0 RBM28 55131 broad.mit.edu 37 7 127975631 127975631 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:127975631C>G ENST00000223073.1 - 8 1026 c.912G>C c.(910-912)caG>caC p.Q304H RBM28_ENST00000415472.2_Missense_Mutation_p.Q163H NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 304 mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 TGGTATCACTCTGAGCCAGTT 0.423000 5 37 0 0 0.001168 0 0 COLQ 8292 broad.mit.edu 37 3 15512102 15512102 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:15512102C>T ENST00000383785.2 - 11 783 c.658G>A c.(658-660)Gaa>Aaa p.E220K COLQ_ENST00000383781.4_Missense_Mutation_p.E210K|COLQ_ENST00000383786.5_Missense_Mutation_p.E186K|COLQ_ENST00000383788.5_Missense_Mutation_p.E220K|COLQ_ENST00000435459.2_Missense_Mutation_p.E210K|COLQ_ENST00000383787.2_Missense_Mutation_p.E211K|COLQ_ENST00000603808.1_Missense_Mutation_p.E220K Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 220 Collagen-like 1. acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 ATCCCAGGTTCACCTTTTGGA 0.537000 63 194 0 0 0.014410 0 0 ICAM1 3383 broad.mit.edu 37 19 10395703 10395703 + Splice_Site SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10395703C>T ENST00000264832.3 + 6 1750 c.1426_splice c.e6+1 p.L475_splice CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Splice_Site_p.L253_splice NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 475 adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) TGAATGTGCTCTGTGAGTGAG 0.622000 15 37 0 0 0.006122 0 0 KLHL3 26249 broad.mit.edu 37 5 137028128 137028128 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:137028128G>A ENST00000541417.1 - 3 559 c.17C>T c.(16-18)tCc>tTc p.S6F KLHL3_ENST00000508657.1_Silent_p.L92L|KLHL3_ENST00000506491.1_Silent_p.L42L|KLHL3_ENST00000394937.3_Silent_p.L124L|KLHL3_ENST00000309755.4_Silent_p.L124L Q9UH77 KLHL3_HUMAN kelch-like family member 3 0 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) TGGCTGCCGGGAGCAGCACCT 0.527000 8 43 0 0 0.004482 0 0 GPR110 266977 broad.mit.edu 37 6 46977535 46977535 + Missense_Mutation SNP C C T rs112946460 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977535C>T ENST00000371253.2 - 11 1851 c.1636G>A c.(1636-1638)Gat>Aat p.D546N GPR110_ENST00000283297.5_Missense_Mutation_p.D349N|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 546 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CAgcctgcatcgttccactgc 0.433000 13 43 0 0 0.001855 0 0 HSD11B2 3291 broad.mit.edu 37 16 67469873 67469873 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:67469873C>T ENST00000326152.5 + 3 624 c.492C>T c.(490-492)ctC>ctT p.L164L HSD11B2_ENST00000567684.2_3'UTR NM_000196.3 NP_000187.3 P80365 DHI2_HUMAN hydroxysteroid (11-beta) dehydrogenase 2 164 glucocorticoid biosynthetic process endoplasmic reticulum|microsome breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891) NADH(DB00157) TGTGGGGCCTCGTCAACAACG 0.602000 22 78 0 0 0.004656 0 0 TACC2 10579 broad.mit.edu 37 10 123976183 123976183 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:123976183C>G ENST00000369005.1 + 11 7726 c.7386C>G c.(7384-7386)atC>atG p.I2462M TACC2_ENST00000369001.1_Missense_Mutation_p.I166M|TACC2_ENST00000453444.2_Missense_Mutation_p.I2466M|TACC2_ENST00000368999.1_Missense_Mutation_p.I552M|TACC2_ENST00000360561.3_Missense_Mutation_p.I540M|TACC2_ENST00000513429.1_Missense_Mutation_p.I608M|TACC2_ENST00000334433.3_Missense_Mutation_p.I2462M|TACC2_ENST00000515603.1_Missense_Mutation_p.I2417M|TACC2_ENST00000358010.1_Missense_Mutation_p.I608M|TACC2_ENST00000260733.3_Missense_Mutation_p.I540M|TACC2_ENST00000515273.1_Missense_Mutation_p.I2466M|TACC2_ENST00000369000.1_Missense_Mutation_p.I162M|TACC2_ENST00000369004.3_Missense_Mutation_p.I552M NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2462 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CACCAGTGATCTCTGCGGTGG 0.537000 4 101 0 0 0.009096 0 0 PPM1N 147699 broad.mit.edu 37 19 46002055 46002055 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:46002055C>G ENST00000324688.4 + 1 191 c.91C>G c.(91-93)Cga>Gga p.R31G PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000451287.2_Missense_Mutation_p.R109G Q8N819 PPM1N_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) 109 Poly-Glu. magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6) 9 CGGTGGGGCTCGAGCTGCCCG 0.711000 2 3 0 0 0.004672 0 0 EGFL8 80864 broad.mit.edu 37 6 32135415 32135415 + Missense_Mutation SNP G G C rs17853434 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:32135415G>C ENST00000395512.1 + 8 922 c.817G>C c.(817-819)Gag>Cag p.E273Q EGFL8_ENST00000333845.6_Missense_Mutation_p.E273Q|EGFL8_ENST00000489721.1_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 273 E -> Q (in Ref. 6; AAH35574). extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 GCTGCTGCTGGAGGAGAGGCT 0.612000 23 28 0 0 0.005443 0 0 MTIF2 4528 broad.mit.edu 37 2 55471167 55471167 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:55471167C>G ENST00000394600.3 - 12 2045 c.1309G>C c.(1309-1311)Gag>Cag p.E437Q MTIF2_ENST00000263629.4_Missense_Mutation_p.E437Q|MTIF2_ENST00000403721.1_Missense_Mutation_p.E437Q NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 437 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 TGATACACCTCAGATTCTACT 0.338000 7 31 0 0 0.003080 0 0 C2orf44 80304 broad.mit.edu 37 2 24255769 24255769 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:24255769G>A ENST00000295148.4 - 3 1923 c.1866C>T c.(1864-1866)ctC>ctT p.L622L C2orf44_ENST00000406895.3_Intron NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 622 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACCATCACAGAGAAGCACCG 0.383000 T ALK NSCLC 46 151 0 0 0.014410 0 0 POLRMT 5442 broad.mit.edu 37 19 621366 621366 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:621366C>A ENST00000588649.2 - 10 2416 c.2332G>T c.(2332-2334)Gag>Tag p.E778* NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 778 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAGCGCCTCCGCCCGCAGG 0.746000 4 10 0.00909568 0.0092113 0.009096 1 0 NCK1 4690 broad.mit.edu 37 3 136664663 136664663 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:136664663C>A ENST00000469404.1 + 2 364 c.273C>A c.(271-273)ttC>ttA p.F91L NCK1_ENST00000288986.2_Missense_Mutation_p.F155L|NCK1_ENST00000481752.1_Missense_Mutation_p.F155L NM_001190796.1 NP_001177725.1 P16333 NCK1_HUMAN NCK adaptor protein 1 155 axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway cytosol|endoplasmic reticulum|nucleus cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 13 TTGGATGGTTCCCTTCAAACT 0.443000 19 169 1.15919e-05 1.1976e-05 0.008871 1 0 DEF6 50619 broad.mit.edu 37 6 35280429 35280429 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:35280429G>A ENST00000316637.5 + 5 692 c.687G>A c.(685-687)ctG>ctA p.L229L DEF6_ENST00000542066.1_Intron NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 229 PH. cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 GAGGGCACCTGAGAAGGAACT 0.612000 3 29 0 0 0.004672 0 0 GALNT12 79695 broad.mit.edu 37 9 101608279 101608279 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:101608279G>C ENST00000375011.3 + 9 1479 c.1479G>C c.(1477-1479)caG>caC p.Q493H NM_024642.4 NP_078918.3 Q8IXK2 GLT12_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) 493 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) ACACGTCCCAGAAAGAAATAC 0.483000 11 41 0 0 0.008291 0 0 CAPS2 84698 broad.mit.edu 37 12 75692498 75692498 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:75692498C>T ENST00000393284.3 - 11 975 c.374G>A c.(373-375)gGa>gAa p.G125E CAPS2_ENST00000409445.3_Missense_Mutation_p.G357E|CAPS2_ENST00000409799.1_Missense_Mutation_p.G275E|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron Q9BXY5 CAYP2_HUMAN calcyphosine 2 357 L -> F (in dbSNP:rs10879901). calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 GTATTGTTTTCCTTTTCTTCG 0.353000 13 50 0 0 0.002450 0 0 NR1H3 10062 broad.mit.edu 37 11 47283391 47283391 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:47283391G>A ENST00000481889.2 + 5 1035 c.867G>A c.(865-867)gaG>gaA p.E289E NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000467728.1_Intron Q13133 NR1H3_HUMAN nuclear receptor subfamily 1, group H, member 3 185 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 GGGATGAGGAGAATCGGCCTC 0.577000 21 68 0 0 0.008871 0 0 KATNAL2 83473 broad.mit.edu 37 18 44595607 44595607 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:44595607C>T ENST00000245121.5 + 9 820 c.626C>T c.(625-627)aCa>aTa p.T209I KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Missense_Mutation_p.T281I NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 281 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 CAGCTATTTACAGGAATTCTT 0.463000 25 94 0 0 0.005443 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44612228 44612228 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:44612228G>C ENST00000273320.3 + 6 2055 c.1626G>C c.(1624-1626)caG>caC p.Q542H ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.Q542H NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 TTGACCATCAGAGAATCCACA 0.463000 48 123 0 0 0.014410 0 0 PLOD2 5352 broad.mit.edu 37 3 145828128 145828128 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:145828128C>G ENST00000282903.5 - 4 623 c.446G>C c.(445-447)aGa>aCa p.R149T PLOD2_ENST00000494950.1_Missense_Mutation_p.R94T|PLOD2_ENST00000360060.3_Missense_Mutation_p.R149T NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 149 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) GTCTGCTAGTCTTTTATCTGG 0.388000 25 76 0 0 0.008361 0 0 MITF 4286 broad.mit.edu 37 3 70014321 70014321 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:70014321C>T ENST00000352241.4 + 10 1648 c.1485C>T c.(1483-1485)tcC>tcT p.S495S MITF_ENST00000531774.1_Silent_p.S332S|MITF_ENST00000448226.2_Silent_p.S501S|MITF_ENST00000394355.2_Silent_p.S470S|MITF_ENST00000472437.1_Silent_p.S443S|MITF_ENST00000394351.3_Silent_p.S394S|MITF_ENST00000328528.6_Silent_p.S494S|MITF_ENST00000314589.5_Silent_p.S479S|MITF_ENST00000314557.6_Silent_p.S388S NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 501 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CACTCCTTTCCTCAGTGTCCC 0.532000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 20 74 0 0 0.014323 0 0 TTC30B 150737 broad.mit.edu 37 2 178415907 178415907 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:178415907C>G ENST00000408939.2 - 1 1835 c.1585G>C c.(1585-1587)Gag>Cag p.E529Q NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 529 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GAGAGCTGCTCTTCCTCCTTT 0.378000 64 143 0 0 0.014410 0 0 SEPT9 10801 broad.mit.edu 37 17 75398526 75398526 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:75398526C>T ENST00000329047.8 + 2 1220 c.408C>T c.(406-408)atC>atT p.I136I SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427177.1_Silent_p.I154I|SEPT9_ENST00000590294.1_Silent_p.I136I|SEPT9_ENST00000423034.2_Silent_p.I147I|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.I135I|SEPT9_ENST00000449803.2_5'UTR NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 154 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) AGATCACCATCGTCAAACCCC 0.706000 8 13 0 0 0.010729 0 0 CYP4X1 260293 broad.mit.edu 37 1 47515108 47515108 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:47515108G>C ENST00000371901.3 + 11 1537 c.1287G>C c.(1285-1287)ttG>ttC p.L429F CYP4X1_ENST00000538609.1_Missense_Mutation_p.L428F NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 429 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TTGACCCCTTGAGGTTCTCTC 0.458000 36 95 0 0 0.008740 0 0 MACROD1 28992 broad.mit.edu 37 11 63767135 63767135 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:63767135C>T ENST00000255681.6 - 6 831 c.765G>A c.(763-765)ctG>ctA p.L255L OTUB1_ENST00000535715.1_Intron NM_014067.3 NP_054786.2 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 255 Macro. breast(1)|large_intestine(3)|lung(6)|skin(1) 11 GCCGGTGCTCCAGCAGCAGGT 0.716000 4 22 0 0 0.000602 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566301 27566301 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566301C>A ENST00000359541.2 - 2 550 c.121G>T c.(121-123)Gaa>Taa p.E41* GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.E41* Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 41 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTCATTTCTGAAGAGGTC 0.542000 6 239 2.52707e-12 2.68431e-12 0.006214 1 0 FER1L5 90342 broad.mit.edu 37 2 97361634 97361634 + RNA SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:97361634G>C ENST00000457909.1 + 0 3553 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 TGCACCCAAAGCTTCCAAGTA 0.632000 6 29 0 0 0.003080 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566274 27566274 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566274C>G ENST00000359541.2 - 2 577 c.148G>C c.(148-150)Gag>Cag p.E50Q GTF3C2_ENST00000264720.3_Missense_Mutation_p.E50Q Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 50 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATGACATCTCTACGGAAGCC 0.522000 5 254 0 0 0.008291 0 0 SOX7 83595 broad.mit.edu 37 8 10583925 10583925 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:10583925C>G ENST00000304501.1 - 2 568 c.490G>C c.(490-492)Gag>Cag p.E164Q SOX7_ENST00000554914.1_Missense_Mutation_p.E216Q|SOX7_ENST00000553390.1_Missense_Mutation_p.E216Q NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 164 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) GGGGAGTACTCACCCCTGTCC 0.726000 8 15 0 0 0.004482 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142283207 142283207 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:142283207G>T ENST00000378004.3 + 8 1160 c.805G>T c.(805-807)Gag>Tag p.E269* ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.E269* NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 269 PH. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTACACCATGGAGGGATACCT 0.473000 22 73 2.89027e-11 3.05202e-11 0.014323 1 0 SON 6651 broad.mit.edu 37 21 34931614 34931614 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:34931614G>A ENST00000356577.4 + 5 6875 c.6400G>A c.(6400-6402)Gaa>Aaa p.E2134K SON_ENST00000300278.4_Missense_Mutation_p.E2134K|SON_ENST00000381692.2_Missense_Mutation_p.E162K|SON_ENST00000290239.6_Missense_Mutation_p.E2134K NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 2134 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGAAGAGGAAGAAGAACCTCC 0.323000 11 143 0 0 0.010729 0 0 ABCC4 10257 broad.mit.edu 37 13 95858999 95858999 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:95858999G>A ENST00000376887.4 - 8 1062 c.948C>T c.(946-948)ctC>ctT p.L316L ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.L241L|ABCC4_ENST00000431522.1_Silent_p.L316L|ABCC4_ENST00000412704.1_Silent_p.L316L NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 316 ABC transmembrane type-1 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TCATCCCTCTGAGGCAGGAAC 0.463000 21 220 0 0 0.013114 0 0 CCDC57 284001 broad.mit.edu 37 17 80141798 80141798 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:80141798C>T ENST00000392347.1 - 8 1099 c.1063G>A c.(1063-1065)Gat>Aat p.D355N CCDC57_ENST00000392343.3_Missense_Mutation_p.D355N|CCDC57_ENST00000389641.4_Missense_Mutation_p.D355N|CCDC57_ENST00000327026.3_5'UTR NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 355 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) GTTGATGCATCTTCACGAAGT 0.453000 24 32 0 0 0.003330 0 0 COL11A2 1302 broad.mit.edu 37 6 33154361 33154361 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:33154361C>T ENST00000395194.1 - 5 1054 c.841G>A c.(841-843)Gag>Aag p.E281K COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron NM_001163771.1 NP_001157243.1 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1217 Nonhelical 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 TGTCTTCCCTCTCTGGGGTGT 0.567000 19 32 0 0 0.007413 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122967208 122967208 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:122967208C>G ENST00000336229.4 - 8 836 c.706G>C c.(706-708)Gaa>Caa p.E236Q ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR NM_017612.3 NP_060082.2 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 236 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) ATTTGGTGTTCTTCAGAACCA 0.289000 14 44 0 0 0.006122 0 0 IGSF10 285313 broad.mit.edu 37 3 151155923 151155923 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:151155923C>T ENST00000282466.3 - 6 6425 c.6426G>A c.(6424-6426)cgG>cgA p.R2142R IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2142 Ig-like C2-type 8. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCTGCCTTATCCGGGGAGCAG 0.458000 25 62 0 0 0.004656 0 0 HECTD4 283450 broad.mit.edu 37 12 112699141 112699141 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:112699141G>A ENST00000550722.1 - 18 2798 c.2403C>T c.(2401-2403)ctC>ctT p.L801L HECTD4_ENST00000430131.2_Silent_p.L515L|HECTD4_ENST00000377560.5_Silent_p.L765L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 CACTATTTATGAGGGCAGTTG 0.458000 19 55 0 0 0.010504 0 0 TTI2 80185 broad.mit.edu 37 8 33369604 33369604 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:33369604G>A ENST00000431156.2 - 2 1146 c.528C>T c.(526-528)ctC>ctT p.L176L TTI2_ENST00000360742.5_Silent_p.L176L|TTI2_ENST00000520636.1_Silent_p.L176L NM_001102401.2 NP_001095871.1 Q6NXR4 CH041_HUMAN TELO2 interacting protein 2 176 binding GCAGTGAGGTGAGCACCTCCC 0.493000 6 269 0 0 0.001168 0 0 SPATA5L1 79029 broad.mit.edu 37 15 45695714 45695714 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:45695714G>C ENST00000305560.6 + 1 1186 c.1087G>C c.(1087-1089)Gag>Cag p.E363Q SPATA5L1_ENST00000559860.1_Missense_Mutation_p.E363Q NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 363 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) ATTTGACCGAGAGGTGAATGG 0.662000 6 53 0 0 0.003080 0 0 NCF2 4688 broad.mit.edu 37 1 183543724 183543724 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:183543724C>G ENST00000367535.3 - 4 650 c.399G>C c.(397-399)aaG>aaC p.K133N NCF2_ENST00000367536.1_Missense_Mutation_p.K133N|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron NM_000433.3 NP_000424.2 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 133 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 ATTCCTCCTTCTTGGCATACA 0.438000 27 79 0 0 0.007291 0 0 VHL 7428 broad.mit.edu 37 3 10188211 10188211 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:10188211C>T ENST00000256474.2 + 2 1194 c.354C>T c.(352-354)ctC>ctT p.L118L VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR NM_000551.3 NP_000542.1 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 118 Involved in binding to CCT complex. L -> P (in VHLD; type I; dbSNP:rs5030830).|L -> R (in VHLD). anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.W117fs*40(1)|p.L118_G123>P(1)|p.W117fs*1(1)|p.?(1) adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3) 1769 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) ACCTTTGGCTCTTCAGAGATG 0.507000 1 """D, Mis, N, F, S""" """renal, hemangioma, pheochromocytoma""" """renal, hemangioma, pheochromocytoma""" von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia 58 146 0 0 0.014410 0 0 FBXO18 84893 broad.mit.edu 37 10 5951160 5951160 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:5951160C>T ENST00000379999.5 + 6 1180 c.1076C>T c.(1075-1077)cCc>cTc p.P359L FBXO18_ENST00000362091.4_Missense_Mutation_p.P308L|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379994.1_Missense_Mutation_p.P45L|FBXO18_ENST00000397269.3_5'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 308 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 AGTGTGGATCCCGAGAGGGTG 0.592000 19 67 0 0 0.008871 0 0 DENND1C 79958 broad.mit.edu 37 19 6471307 6471307 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:6471307C>T ENST00000381480.2 - 17 1371 c.1259G>A c.(1258-1260)cGa>cAa p.R420Q DENND1C_ENST00000543576.1_Missense_Mutation_p.R376Q NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 420 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CTGATAGGATCGAAGGGCCCC 0.607000 7 11 0 0 0.006214 0 0 FBXO11 80204 broad.mit.edu 37 2 48063095 48063095 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:48063095C>T ENST00000403359.3 - 5 705 c.633G>A c.(631-633)atG>atA p.M211I FBXO11_ENST00000402508.1_Missense_Mutation_p.M127I|FBXO11_ENST00000316377.4_Missense_Mutation_p.M127I|FBXO11_ENST00000480038.1_5'UTR NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 211 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTCAGGATGCATCATAGGGC 0.328000 """Mis, F, D""" DLBCL 7 54 0 0 0.001984 0 0 LIG3 3980 broad.mit.edu 37 17 33316674 33316674 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:33316674C>T ENST00000378526.4 + 4 1014 c.881C>T c.(880-882)tCa>tTa p.S294L LIG3_ENST00000262327.5_Missense_Mutation_p.S294L NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 294 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) CGGAAAGGCTCAGCAGGAGGT 0.552000 Other BER factors 21 98 0 0 0.010504 0 0 LRSAM1 90678 broad.mit.edu 37 9 130263396 130263396 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:130263396G>C ENST00000323301.4 + 24 2624 c.2020G>C c.(2020-2022)Gag>Cag p.E674Q LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E647Q|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E674Q|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E674Q NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 674 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 GCAGGCCTCAGAGTGTGTCGT 0.662000 13 35 0 0 0.013537 0 0 LRP4 4038 broad.mit.edu 37 11 46897369 46897369 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:46897369C>T ENST00000378623.1 - 26 3927 c.3685G>A c.(3685-3687)Gat>Aat p.D1229N NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1229 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTGTGGGCATCGGCCCATAGC 0.597000 8 62 0 0 0.006214 0 0 FASN 2194 broad.mit.edu 37 17 80054216 80054216 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:80054216C>T ENST00000306749.2 - 2 324 c.106G>A c.(106-108)Gat>Aat p.D36N NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 36 Beta-ketoacyl synthase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CGACGGTCATCGTCCGTGACC 0.632000 12 92 0 0 0.001855 0 0 TLL2 7093 broad.mit.edu 37 10 98146809 98146809 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:98146809G>C ENST00000357947.3 - 14 1978 c.1753C>G c.(1753-1755)Cac>Gac p.H585D NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 585 EGF-like 1; calcium-binding (Potential). EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H585N(2) NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CACCCGCCGTGATCTGGCCAG 0.592000 18 48 0 0 0.010504 0 0 TRIM28 10155 broad.mit.edu 37 19 59060728 59060728 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:59060728C>A ENST00000253024.5 + 13 1982 c.1693C>A c.(1693-1695)Cct>Act p.P565T TRIM28_ENST00000341753.6_Missense_Mutation_p.P483T NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 565 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CATTGGAGCCCCTCCTACTGC 0.607000 53 195 6.56871e-35 7.09302e-35 0.014410 1 0 MICALL2 79778 broad.mit.edu 37 7 1479682 1479682 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:1479682C>T ENST00000297508.7 - 9 2020 c.1845G>A c.(1843-1845)ccG>ccA p.P615P MICALL2_ENST00000405088.4_Silent_p.P403P NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 615 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) CCCCCGCCCTCGGCTCTGCCA 0.687000 28 61 0 0 0.009535 0 0 FER1L6 654463 broad.mit.edu 37 8 125072457 125072457 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:125072457G>C ENST00000522917.1 + 23 3117 c.2911G>C c.(2911-2913)Gag>Cag p.E971Q FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E971Q NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 971 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCACCCGTTGAGCCACCAGA 0.582000 41 119 0 0 0.014410 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499959 59499959 + Missense_Mutation SNP G G C rs139039522 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:59499959G>C ENST00000307144.4 + 1 918 c.820G>C c.(820-822)Gag>Cag p.E274Q MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 274 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) TAAAGATCCTGAGCAATGGAA 0.433000 9 61 0 0 0.004482 0 0 FOXP4 116113 broad.mit.edu 37 6 41552527 41552527 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:41552527G>A ENST00000373060.1 + 4 779 c.321G>A c.(319-321)atG>atA p.M107I FOXP4_ENST00000307972.4_Missense_Mutation_p.M107I|FOXP4_ENST00000409208.1_Missense_Mutation_p.M107I|FOXP4_ENST00000373063.3_Missense_Mutation_p.M107I|FOXP4_ENST00000373057.3_Missense_Mutation_p.M107I NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 107 Gln-rich. embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CGGTGGCCATGATGTCGCCGC 0.662000 3 6 0 0 0.004672 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317643 30317643 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:30317643C>G ENST00000375377.1 - 3 1535 c.1434G>C c.(1432-1434)caG>caC p.Q478H NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 478 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 GTATTAAGCTCTGTGGATTCC 0.572000 43 124 0 0 0.010771 0 0 CELF6 60677 broad.mit.edu 37 15 72608214 72608214 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:72608214G>A ENST00000287202.5 - 2 571 c.317C>T c.(316-318)gCa>gTa p.A106V RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_5'UTR|CELF6_ENST00000567083.1_Missense_Mutation_p.A106V NM_052840.4 NP_443072.3 Q96J87 CELF6_HUMAN CUGBP, Elav-like family member 6 106 RRM 1. mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2) 13 CTCGTGCAGTGCACTCTGGGC 0.627000 7 13 0 0 0.003080 0 0 ATP6AP1L 92270 broad.mit.edu 37 5 81613993 81613993 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:81613993C>T ENST00000380167.4 + 10 1874 c.549C>T c.(547-549)atC>atT p.I183I ATP6AP1L_ENST00000439350.1_Silent_p.I183I|ATP6AP1L_ENST00000508366.1_Intron Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 183 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 ATGATCTCATCGCCTCTCCTG 0.557000 17 70 0 0 0.004990 0 0 LTB4R 1241 broad.mit.edu 37 14 24785338 24785338 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:24785338T>C ENST00000396789.4 + 2 2206 c.481T>C c.(481-483)Tgg>Cgg p.W161R LTB4R_ENST00000396782.2_Missense_Mutation_p.W161R|LTB4R_ENST00000345363.3_Missense_Mutation_p.W161R NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 161 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) AGTAGTGCCCTGGAAAACGAA 0.637000 3 119 0 0 0.004672 0 0 RBM38 55544 broad.mit.edu 37 20 55982766 55982766 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:55982766C>T ENST00000356208.5 + 4 759 c.584C>T c.(583-585)tCg>tTg p.S195L RBM38_ENST00000371219.2_Missense_Mutation_p.S114L|RBM38_ENST00000440234.2_3'UTR NM_017495.5 NP_059965.2 Q9H0Z9 RBM38_HUMAN RNA binding motif protein 38 195 3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing cytosol|nucleus mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08) TACGCCGCCTCGCCTGCCACG 0.692000 8 20 0 0 0.004482 0 0 LRRC30 339291 broad.mit.edu 37 18 7232012 7232012 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:7232012C>G ENST00000383467.2 + 1 890 c.876C>G c.(874-876)ttC>ttG p.F292L NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 292 p.F292F(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 AGATGCTCTTCGGCTACCTGA 0.587000 66 137 0 0 0.014410 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935785 94935785 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:94935785C>G ENST00000337425.5 - 2 521 c.447G>C c.(445-447)aaG>aaC p.K149N SERPINA9_ENST00000380365.3_Missense_Mutation_p.K131N|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.K113N|SERPINA9_ENST00000448305.2_Missense_Mutation_p.K51N|SERPINA9_ENST00000424550.2_5'UTR NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 131 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CACTTCCCATCTTCAAGGTCA 0.512000 30 153 0 0 0.012213 0 0 KIF27 55582 broad.mit.edu 37 9 86518637 86518637 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:86518637G>C ENST00000297814.2 - 4 939 c.796C>G c.(796-798)Caa>Gaa p.Q266E KIF27_ENST00000413982.1_Missense_Mutation_p.Q266E|KIF27_ENST00000334204.2_Missense_Mutation_p.Q266E NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 266 Kinesin-motor. cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CTATTGATTTGAATGGATTCT 0.428000 30 81 0 0 0.009535 0 0 APBB2 323 broad.mit.edu 37 4 41016114 41016114 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:41016114G>A ENST00000295974.8 - 6 950 c.321C>T c.(319-321)ctC>ctT p.L107L APBB2_ENST00000506352.1_Silent_p.L107L|APBB2_ENST00000513140.1_Silent_p.L107L|APBB2_ENST00000508593.1_Silent_p.L107L NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 107 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CAGCCTTACGGAGCTGGTTCT 0.562000 23 70 0 0 0.003954 0 0 TMEM95 339168 broad.mit.edu 37 17 7259355 7259355 + Silent SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:7259355T>C ENST00000389982.4 + 4 397 c.315T>C c.(313-315)tgT>tgC p.C105C TMEM95_ENST00000330767.4_Silent_p.C105C|TMEM95_ENST00000576060.1_Silent_p.C105C Q3KNT9 TMM95_HUMAN transmembrane protein 95 105 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) CAGCTCTCTGTCCCCCCGCCT 0.592000 OREG0024137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 104 0 0 0.001855 0 0 ZNF521 25925 broad.mit.edu 37 18 22805754 22805754 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:22805754G>A ENST00000361524.3 - 4 2276 c.2128C>T c.(2128-2130)Cag>Tag p.Q710* ZNF521_ENST00000584787.1_Nonsense_Mutation_p.Q490*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.Q710* NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 710 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGGTGTTTCTGAAGGTCATCC 0.443000 T PAX5 ALL 24 101 0 0 0.004656 0 0 C22orf23 84645 broad.mit.edu 37 22 38349119 38349119 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38349119C>G ENST00000249079.2 - 2 294 c.38G>C c.(37-39)gGa>gCa p.G13A POLR2F_ENST00000484894.1_Intron|C22orf23_ENST00000403026.1_Missense_Mutation_p.G13A|C22orf23_ENST00000403305.1_Missense_Mutation_p.G13A Q9BZE7 EVG1_HUMAN chromosome 22 open reading frame 23 13 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) GAACCCAGTTCCTTTGGTCAC 0.577000 39 143 0 0 0.006230 0 0 TBL1X 6907 broad.mit.edu 37 X 9679750 9679750 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:9679750C>T ENST00000217964.7 + 16 2179 c.1539C>T c.(1537-1539)ttC>ttT p.F513F TBL1X_ENST00000424279.1_Silent_p.F462F|TBL1X_ENST00000380961.1_Silent_p.F462F|TBL1X_ENST00000536365.1_Silent_p.F462F|TBL1X_ENST00000407597.2_Silent_p.F513F NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 513 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) GCGTAGCTTTCAGCCCTGATG 0.527000 15 21 0 0 0.004007 0 0 JPH1 56704 broad.mit.edu 37 8 75227373 75227373 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:75227373C>T ENST00000342232.4 - 2 902 c.862G>A c.(862-864)Gac>Aac p.D288N NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 288 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) TTGCGCTTGTCGTTCTTCCAC 0.542000 50 122 0 0 0.014410 0 0 RALGDS 5900 broad.mit.edu 37 9 135975666 135975666 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:135975666G>C ENST00000393160.3 - 17 2746 c.2393C>G c.(2392-2394)tCa>tGa p.S798* RALGDS_ENST00000372047.3_Nonsense_Mutation_p.S841*|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.S824*|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.S852*|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Nonsense_Mutation_p.S924*|RALGDS_ENST00000372050.3_Nonsense_Mutation_p.S853* NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 853 Ras-associating. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CCGGTCATCTGAGAGAATCTG 0.582000 T CIITA """PMBL, Hodgkin Lymphona, """ 79 253 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179572396 179572396 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:179572396G>A ENST00000589042.1 - 100 29122 c.28898C>T c.(28897-28899)tCa>tTa p.S9633L TTN_ENST00000591111.1_Missense_Mutation_p.S9316L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8389L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9316 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) GCATCTGTCTGAAGGCTTTAT 0.483000 18 36 0 0 0.007413 0 0 MEGF6 1953 broad.mit.edu 37 1 3427384 3427384 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:3427384G>A ENST00000356575.4 - 10 1423 c.1197C>T c.(1195-1197)gcC>gcT p.A399A MEGF6_ENST00000294599.4_Silent_p.A294A NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 399 EGF-like 7. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-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;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCGGTAGCCGGCGTAGCAGC 0.672000 30 41 0 0 0.010818 0 0 CCDC104 112942 broad.mit.edu 37 2 55747049 55747049 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:55747049G>A ENST00000349456.4 + 1 260 c.112G>A c.(112-114)Gaa>Aaa p.E38K CCDC104_ENST00000407816.3_Missense_Mutation_p.E38K|CCDC104_ENST00000403007.3_Missense_Mutation_p.E38K|CCDC104_ENST00000339012.3_Missense_Mutation_p.E38K|CCDC104_ENST00000406691.3_Missense_Mutation_p.E38K Q96G28 CC104_HUMAN coiled-coil domain containing 104 38 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACAGAAATGTGAAGGTAAAAA 0.567000 26 50 0 0 0.003330 0 0 PYCARD 29108 broad.mit.edu 37 16 31213912 31213912 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:31213912C>G ENST00000247470.9 - 1 401 c.100G>C c.(100-102)Gag>Cag p.E34Q PYCARD_ENST00000350605.4_Missense_Mutation_p.E34Q|C16orf98_ENST00000561916.2_Silent_p.L46L NM_013258.4 NP_037390.2 Q9ULZ3 ASC_HUMAN PYD and CARD domain containing 34 DAPIN. induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding p.E34K(1) NS(1)|kidney(1) 2 CCGTAGCCCTCGCGCAGCGGC 0.677000 20 31 0 0 0.008871 0 0 ZNF343 79175 broad.mit.edu 37 20 2474463 2474463 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:2474463C>G ENST00000278772.4 - 3 566 c.79G>C c.(79-81)Gag>Cag p.E27Q ZNF343_ENST00000358413.2_Missense_Mutation_p.E27Q|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E27Q|ZNF343_ENST00000381253.1_Missense_Mutation_p.E27Q NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 27 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E27K(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 TTCATAGTCTCTACATTTTCC 0.473000 36 161 0 0 0.003271 0 0 RPL15 6138 broad.mit.edu 37 3 23959350 23959350 + Translation_Start_Site SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:23959350G>A ENST00000307839.5 + 0 639 NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000413699.1_De_novo_Start_InFrame|RPL15_ENST00000354811.5_De_novo_Start_InFrame|RPL15_ENST00000415719.1_De_novo_Start_InFrame|RPL15_ENST00000456530.2_De_novo_Start_InFrame|RPL15_ENST00000435882.1_De_novo_Start_InFrame NM_001253379.1|NM_001253380.1|NM_002948.3 NP_001240308.1|NP_001240309.1|NP_002939.2 P61313 RL15_HUMAN ribosomal protein L15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 GGTAAGCCAAGATGGGTGCAT 0.453000 24 72 0 0 0.005443 0 0 AGO3 192669 broad.mit.edu 37 1 36506033 36506033 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:36506033G>C ENST00000373191.4 + 16 2512 c.2163G>C c.(2161-2163)agG>agC p.R721S AGO3_ENST00000246314.6_Missense_Mutation_p.R487S NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 GTGCTGATAGGACAGAAAGGG 0.413000 26 75 0 0 0.009535 0 0 USP50 373509 broad.mit.edu 37 15 50830917 50830917 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:50830917G>A ENST00000532404.1 - 5 965 c.792C>T c.(790-792)ttC>ttT p.F264F USP50_ENST00000530218.1_5'UTR NM_203494.4 NP_987090.2 E9PP86 E9PP86_HUMAN ubiquitin specific peptidase 50 264 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5) 13 all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288) TTTTTAGGTGGAAAATAATTA 0.368000 6 5 0 0 0.001168 0 0 TRGC2 6967 broad.mit.edu 37 7 38288871 38288871 + RNA SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:38288871C>G ENST00000436911.2 - 0 302 AAGATAATTTCTTGATCAATT 0.348000 13 61 0 0 0.013537 0 0 PTMA 5757 broad.mit.edu 37 2 232576621 232576621 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:232576621G>T ENST00000409115.3 + 3 337 c.139G>T c.(139-141)Gag>Tag p.E47* PTMA_ENST00000341369.7_Nonsense_Mutation_p.E48*|PTMA_ENST00000409321.1_Nonsense_Mutation_p.E68*|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000410064.1_Nonsense_Mutation_p.E73*|PTMA_ENST00000409683.1_Nonsense_Mutation_p.E47* NM_002823.4 NP_002814.3 P06454 PTMA_HUMAN prothymosin, alpha 48 Asp/Glu-rich (acidic). transcription, DNA-dependent nucleus lung(3)|ovary(1)|prostate(1)|skin(1) 6 Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142) Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) TGGGGAGCAGGAGGCTGACAA 0.547000 6 9 3.59834e-05 3.691e-05 0.001168 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232649741 232649741 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:232649741G>A ENST00000366630.1 - 2 1703 c.1345C>T c.(1345-1347)Cac>Tac p.H449Y SIPA1L2_ENST00000262861.4_Missense_Mutation_p.H449Y Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 449 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTTGTGCAGTGAGAGCTGAGT 0.522000 46 142 0 0 0.014410 0 0 SBF2 81846 broad.mit.edu 37 11 9875240 9875240 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:9875240C>G ENST00000256190.8 - 20 2520 c.2383G>C c.(2383-2385)Gag>Cag p.E795Q RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 795 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TCATAGCTCTCAGCTACACTT 0.373000 18 142 0 0 0.006122 0 0 KAT6B 23522 broad.mit.edu 37 10 76789241 76789241 + Silent SNP C C T rs147158118 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:76789241C>T ENST00000287239.4 + 18 5148 c.4659C>T c.(4657-4659)agC>agT p.S1553S KAT6B_ENST00000372711.1_Silent_p.S1370S|KAT6B_ENST00000372724.1_Silent_p.S1261S|KAT6B_ENST00000372725.1_Silent_p.S1261S|KAT6B_ENST00000372714.1_Silent_p.S1261S NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1553 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding AGGAGAGCAGCGAACAGGACG 0.527000 15 110 0 0 0.006122 0 0 ANO5 203859 broad.mit.edu 37 11 22301235 22301235 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:22301235G>T ENST00000324559.8 + 22 2983 c.2666G>T c.(2665-2667)gGa>gTa p.G889V NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 889 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGAACTTGGGAATTAATTCT 0.363000 7 75 0.00198382 0.00202045 0.001984 1 0 GJB6 10804 broad.mit.edu 37 13 20797248 20797248 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:20797248C>T ENST00000356192.6 - 5 992 c.372G>A c.(370-372)caG>caA p.Q124Q GJB6_ENST00000241124.6_Silent_p.Q124Q|GJB6_ENST00000400065.3_Silent_p.Q124Q|GJB6_ENST00000400066.3_Silent_p.Q124Q NM_001110219.2 NP_001103689.1 O95452 CXB6_HUMAN gap junction protein, beta 6, 30kDa 124 Q -> H (in Ref. 1; CAA06611). cell communication|sensory perception of sound connexon complex|integral to membrane|intracellular membrane-bounded organelle biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 9 all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744) TCCGAACCTTCTGCTTTTTAA 0.463000 15 48 0 0 0.006122 0 0 NNT 23530 broad.mit.edu 37 5 43616149 43616149 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:43616149C>T ENST00000264663.5 + 4 802 c.581C>T c.(580-582)tCc>tTc p.S194F NNT_ENST00000344920.4_Missense_Mutation_p.S194F|NNT_ENST00000512996.2_Missense_Mutation_p.S63F NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 194 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) GCGCTAAGCTCCATGGCCAAC 0.433000 64 133 0 0 0.014410 0 0 ZFP2 80108 broad.mit.edu 37 5 178358745 178358745 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:178358745C>T ENST00000361362.2 + 5 961 c.431C>T c.(430-432)tCc>tTc p.S144F ZFP2_ENST00000503510.2_Missense_Mutation_p.S144F|ZFP2_ENST00000523286.1_Missense_Mutation_p.S144F|ZFP2_ENST00000520301.1_Missense_Mutation_p.S144F NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) GAACGATCCTCCCTTACTGTA 0.403000 19 58 0 0 0.008871 0 0 DNAJC1 64215 broad.mit.edu 37 10 22208791 22208791 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:22208791G>C ENST00000376980.3 - 5 895 c.605C>G c.(604-606)tCa>tGa p.S202* NM_022365.3 NP_071760.2 Q96KC8 DNJC1_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 1 202 negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2) 21 Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262) ACCGAGTTTTGATACATCCAC 0.299000 34 123 0 0 0.005524 0 0 ASPHD2 57168 broad.mit.edu 37 22 26829810 26829810 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:26829810C>G ENST00000215906.5 + 2 667 c.229C>G c.(229-231)Cac>Gac p.H77D NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 77 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 GTACTGTTATCACGTGGGCAG 0.637000 23 74 0 0 0.003954 0 0 DNAH11 8701 broad.mit.edu 37 7 21695520 21695520 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:21695520C>T ENST00000328843.6 + 29 5061 c.5030C>T c.(5029-5031)tCt>tTt p.S1677F DNAH11_ENST00000409508.3_Missense_Mutation_p.S1672F Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1677 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CAGGATGTTTCTGCACACAGG 0.403000 Kartagener syndrome 7 49 0 0 0.003080 0 0 GPR116 221395 broad.mit.edu 37 6 46851916 46851916 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46851916C>G ENST00000283296.7 - 5 709 c.421G>C c.(421-423)Gag>Cag p.E141Q GPR116_ENST00000265417.7_Missense_Mutation_p.E141Q|GPR116_ENST00000362015.4_Missense_Mutation_p.E141Q|GPR116_ENST00000456426.2_Missense_Mutation_p.E141Q NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 141 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) ACGTCACGCTCTTGACAAATG 0.502000 17 125 0 0 0.006122 0 0 RBM4B 83759 broad.mit.edu 37 11 66436418 66436418 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:66436418G>C ENST00000525754.1 - 2 1425 c.757C>G c.(757-759)Caa>Gaa p.Q253E RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.Q253E Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 253 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 CTTTGGACTTGAGGCAGATGG 0.542000 4 158 0 0 0.009096 0 0 RNF31 55072 broad.mit.edu 37 14 24618025 24618025 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:24618025G>C ENST00000324103.6 + 5 891 c.571G>C c.(571-573)Gaa>Caa p.E191Q RNF31_ENST00000559275.1_Missense_Mutation_p.E40Q|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000382687.3_Missense_Mutation_p.E40Q NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 191 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) GCAGCTTTCAGAATTTGACCC 0.483000 47 240 0 0 0.014410 0 0 NR2F1 7025 broad.mit.edu 37 5 92929548 92929548 + Nonstop_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:92929548G>C ENST00000327111.3 + 3 2959 c.1272G>C c.(1270-1272)taG>taC p.*424Y NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 0 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) AGTGCTCCTAGACCTTGGGCG 0.597000 8 85 0 0 0.003080 0 0 KIAA0391 9692 broad.mit.edu 37 14 35593114 35593114 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:35593114C>T ENST00000557565.1 + 2 1044 c.663C>T c.(661-663)atC>atT p.I221I KIAA0391_ENST00000603544.1_Silent_p.I221I|KIAA0391_ENST00000534898.4_Silent_p.I221I|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000321130.10_Silent_p.I221I|KIAA0391_ENST00000250377.7_Silent_p.I126I|KIAA0391_ENST00000604948.1_Silent_p.I126I|KIAA0391_ENST00000605870.1_Intron O15091 MRRP3_HUMAN KIAA0391 221 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) GGGGATTGATCCATTCAGACA 0.373000 17 35 0 0 0.006122 0 0 RHOQ 23433 broad.mit.edu 37 2 46770215 46770215 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:46770215C>T ENST00000238738.4 + 1 349 c.30C>T c.(28-30)ctC>ctT p.L10L RHOQ_ENST00000465198.1_Intron NM_012249.3 NP_036381.2 P17081 RHOQ_HUMAN ras homolog family member Q 10 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CGCTGATGCTCAAGTGCGTGG 0.736000 6 49 0 0 0.001168 0 0 TATDN3 128387 broad.mit.edu 37 1 212977943 212977943 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:212977943T>C ENST00000366974.4 + 7 531 c.437T>C c.(436-438)gTg>gCg p.V146A TATDN3_ENST00000531963.1_Missense_Mutation_p.V146A|TATDN3_ENST00000526641.1_Missense_Mutation_p.V125A|TATDN3_ENST00000526997.1_Missense_Mutation_p.V146A|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Missense_Mutation_p.V146A|TATDN3_ENST00000366973.4_Missense_Mutation_p.V146A NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 146 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) AACAGAAATGTGCACTCACGC 0.338000 6 39 0 0 0.001984 0 0 COL5A3 50509 broad.mit.edu 37 19 10085036 10085036 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10085036G>T ENST00000264828.3 - 46 3476 c.3391C>A c.(3391-3393)Cag>Aag p.Q1131K NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1131 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TCTCCTTTCTGCCCAAAGAGG 0.607000 14 38 1.49906e-05 1.54429e-05 0.002450 1 0 ZNF16 7564 broad.mit.edu 37 8 146157135 146157135 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:146157135C>T ENST00000276816.4 - 4 1224 c.1038G>A c.(1036-1038)gaG>gaA p.E346E ZNF16_ENST00000394909.2_Silent_p.E346E NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CATACGGTTTCTCCCCAGAAT 0.488000 15 81 0 0 0.004007 0 0 LDB2 9079 broad.mit.edu 37 4 16590367 16590367 + Missense_Mutation SNP C C A rs142034467 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:16590367C>A ENST00000502640.1 - 4 645 c.497G>T c.(496-498)cGa>cTa p.R166L LDB2_ENST00000304523.5_Missense_Mutation_p.R166L|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000503178.2_Missense_Mutation_p.R42L|LDB2_ENST00000515064.1_Missense_Mutation_p.R166L|LDB2_ENST00000441778.2_Missense_Mutation_p.R166L O43679 LDB2_HUMAN LIM domain binding 2 166 LIM domain binding|transcription cofactor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 GACTAACTCTCGGTATTGTCT 0.393000 26 71 7.26314e-15 7.74951e-15 0.007291 1 0 KCTD13 253980 broad.mit.edu 37 16 29934634 29934634 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:29934634G>C ENST00000568000.1 - 2 1292 c.291C>G c.(289-291)ctC>ctG p.L97L KCTD13_ENST00000561540.1_Silent_p.L97L|KCTD13_ENST00000568721.1_5'UTR NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 97 BTB. cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 GCAGGTAATTGAGGATTGTAC 0.612000 8 45 0 0 0.003080 0 0 FERMT3 83706 broad.mit.edu 37 11 63974990 63974990 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:63974990C>G ENST00000279227.5 + 2 249 c.154C>G c.(154-156)Cag>Gag p.Q52E FERMT3_ENST00000345728.5_Missense_Mutation_p.Q52E NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 52 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 GATTGTGGAGCAGATCAGTGA 0.667000 11 61 0 0 0.008291 0 0 TRAV3 28690 broad.mit.edu 37 14 22192180 22192180 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:22192180G>A ENST00000390425.2 + 0 221 TCTTCACATTGAGTGAGTAAT 0.542000 9 246 0 0 0.008291 0 0 EFNB1 1947 broad.mit.edu 37 X 68058466 68058466 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:68058466G>A ENST00000204961.4 + 2 915 c.135G>A c.(133-135)ctG>ctA p.L45L NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 45 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 GCAGGTTCCTGAGTGGGAAGG 0.592000 17 11 0 0 0.006122 0 0 ZNF629 23361 broad.mit.edu 37 16 30793399 30793399 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:30793399C>A ENST00000262525.4 - 3 2457 c.2250G>T c.(2248-2250)aaG>aaT p.K750N NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 750 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CGGAAGAGCTCTTCCCCAGCT 0.617000 36 100 6.05902e-23 6.53281e-23 0.003755 1 0 GPATCH11 253635 broad.mit.edu 37 2 37319076 37319076 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:37319076C>T ENST00000409774.1 + 5 479 c.334C>T c.(334-336)Cat>Tat p.H112Y GPATCH11_ENST00000281932.5_Missense_Mutation_p.H9Y NM_174931.2 NP_777591.2 G patch domain containing 11 TGGCATTGGTCATGAGGCATC 0.348000 9 36 0 0 0.006214 0 0 POLR1B 84172 broad.mit.edu 37 2 113322029 113322029 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:113322029G>C ENST00000263331.5 + 10 2279 c.1699G>C c.(1699-1701)Gat>Cat p.D567H POLR1B_ENST00000537335.1_Missense_Mutation_p.D356H|POLR1B_ENST00000417433.2_Missense_Mutation_p.D511H|POLR1B_ENST00000541869.1_Missense_Mutation_p.D605H|POLR1B_ENST00000409894.3_Intron NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 567 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 TGGCTGGGTGGATAAGGATCT 0.507000 42 212 0 0 0.010771 0 0 PRKDC 5591 broad.mit.edu 37 8 48777319 48777319 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:48777319G>T ENST00000314191.2 - 42 5422 c.5366C>A c.(5365-5367)tCa>tAa p.S1789* PRKDC_ENST00000338368.3_Nonsense_Mutation_p.S1789*|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1790 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTGACACATGAACCCCTAAG 0.443000 Non-homologous end-joining 3 14 6.4e-05 6.54608e-05 0.004672 1 0 CTSD 1509 broad.mit.edu 37 11 1774844 1774844 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:1774844C>T ENST00000236671.2 - 9 1260 c.1128G>A c.(1126-1128)ccG>ccA p.P376P RP11-295K3.1_ENST00000427721.1_Intron NM_001909.4 NP_001900.1 P07339 CATD_HUMAN cathepsin D 376 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity p.P376P(1) endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CGCTGGGTGGCGGGATGTCCA 0.657000 15 71 0 0 0.007413 0 0 DEPDC4 120863 broad.mit.edu 37 12 100657450 100657450 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:100657450G>C ENST00000416321.1 - 2 381 c.379C>G c.(379-381)Cta>Gta p.L127V NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 127 DEP. intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 TGATTCATTAGAACTTGGCAA 0.358000 31 71 0 0 0.012213 0 0 RBM4B 83759 broad.mit.edu 37 11 66436492 66436492 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:66436492G>C ENST00000525754.1 - 2 1351 c.683C>G c.(682-684)tCt>tGt p.S228C RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.S228C|RBM4B_ENST00000524637.1_3'UTR Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 228 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 TGCCTCATAAGAGCGGACCCG 0.537000 3 76 0 0 0.004672 0 0 DIRAS1 148252 broad.mit.edu 37 19 2717417 2717417 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:2717417C>T ENST00000323469.4 - 2 571 c.388G>A c.(388-390)Gtg>Atg p.V130M DIRAS1_ENST00000585334.1_Missense_Mutation_p.V130M NM_145173.3 NP_660156.1 O95057 DIRA1_HUMAN DIRAS family, GTP-binding RAS-like 1 130 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|lung(2)|ovary(2)|prostate(1) 6 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) CGCGTGTCCACCTCCCGCTGC 0.617000 15 32 0 0 0.004007 0 0 MST1R 4486 broad.mit.edu 37 3 49936568 49936568 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:49936568C>T ENST00000296474.3 - 2 1386 c.1359G>A c.(1357-1359)gtG>gtA p.V453V MST1R_ENST00000344206.4_Silent_p.V453V NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 453 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAAGGCGTGTCACATACAATG 0.577000 43 97 0 0 0.013114 0 0 COL7A1 1294 broad.mit.edu 37 3 48625737 48625737 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:48625737G>A ENST00000328333.8 - 20 2795 c.2688C>T c.(2686-2688)ttC>ttT p.F896F COL7A1_ENST00000454817.1_Silent_p.F896F NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 896 Fibronectin type-III 8.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGTGCAGAAGGAAGCCCTGCG 0.682000 17 42 0 0 0.008871 0 0 MYH7 4625 broad.mit.edu 37 14 23884362 23884362 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:23884362C>A ENST00000355349.3 - 37 5563 c.5401G>T c.(5401-5403)Gag>Tag p.E1801* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1801 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCGATCTGCTCGGCTTCGTCC 0.622000 15 103 1.3612e-06 1.41447e-06 0.003163 1 0 RHBDF2 79651 broad.mit.edu 37 17 74475233 74475233 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74475233C>T ENST00000591885.1 - 5 949 c.399G>A c.(397-399)ctG>ctA p.L133L RHBDF2_ENST00000592378.1_5'UTR|RHBDF2_ENST00000389760.4_Silent_p.L133L|RHBDF2_ENST00000313080.4_Silent_p.L162L Q6PJF5 RHDF2_HUMAN rhomboid 5 homolog 2 (Drosophila) 162 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 TGGGGAGCTCCAGGTCACGCT 0.692000 11 77 0 0 0.010729 0 0 CCDC147 159686 broad.mit.edu 37 10 106152107 106152107 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:106152107G>C ENST00000369704.3 + 10 1616 c.1482G>C c.(1480-1482)gtG>gtC p.V494V NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 494 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) ATGAAGCTGTGAGATCAGACA 0.299000 22 117 0 0 0.003330 0 0 CROCC 9696 broad.mit.edu 37 1 17264170 17264170 + Missense_Mutation SNP G G C rs141704732 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:17264170G>C ENST00000375541.5 + 10 1297 c.1228G>C c.(1228-1230)Gag>Cag p.E410Q CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 410 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GAAGCGTCTTGAGAAGCAGAA 0.572000 6 18 0 0 0.003080 0 0 SIK3 23387 broad.mit.edu 37 11 116730297 116730297 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:116730297G>C ENST00000375300.1 - 19 2310 c.2305C>G c.(2305-2307)Caa>Gaa p.Q769E SIK3_ENST00000375288.1_Missense_Mutation_p.Q106E|SIK3_ENST00000446921.2_Missense_Mutation_p.Q769E|SIK3_ENST00000434315.2_Missense_Mutation_p.Q610E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q711E|SIK3_ENST00000292055.4_Missense_Mutation_p.Q711E|SIK3_ENST00000488337.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 711 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GGTAAGCCTTGAAACTGGGAA 0.537000 OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 64 0 0 0.003080 0 0 EXOC5 10640 broad.mit.edu 37 14 57699411 57699411 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:57699411G>C ENST00000413566.2 - 10 1271 c.912C>G c.(910-912)ctC>ctG p.L304L EXOC5_ENST00000340918.7_Silent_p.L239L NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 304 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 AGAGATTTTTGAGATATTGCT 0.254000 3 55 0 0 0.004672 0 0 ABR 29 broad.mit.edu 37 17 960284 960284 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:960284G>C ENST00000544583.2 - 13 1901 c.1302C>G c.(1300-1302)ttC>ttG p.F434L ABR_ENST00000302538.5_Missense_Mutation_p.F480L|ABR_ENST00000536794.2_Missense_Mutation_p.F262L|ABR_ENST00000574437.1_Missense_Mutation_p.F434L|ABR_ENST00000573895.1_5'UTR|ABR_ENST00000291107.2_Missense_Mutation_p.F443L NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 480 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TCCTAAGCTTGAAACAGGATC 0.582000 82 118 0 0 0.014410 0 0 SPDYA 245711 broad.mit.edu 37 2 29063067 29063067 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:29063067C>T ENST00000334056.5 + 7 771 c.582C>T c.(580-582)atC>atT p.I194I SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Silent_p.I194I NM_182756.3 NP_877433.2 Q5MJ70 SPDYA_HUMAN speedy/RINGO cell cycle regulator family member A 194 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) CCCATTATATCTGGCAAAGAG 0.378000 7 37 0 0 0.004482 0 0 EPHA2 1969 broad.mit.edu 37 1 16475323 16475323 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:16475323C>T ENST00000358432.5 - 3 527 c.373G>A c.(373-375)Gag>Aag p.E125K EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 125 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) AGGTCCGACTCGGCATAGTAG 0.547000 31 60 0 0 0.009535 0 0 TMEM71 137835 broad.mit.edu 37 8 133740154 133740154 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:133740154G>A ENST00000356838.3 - 6 651 c.509C>T c.(508-510)tCt>tTt p.S170F TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.S189F NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 189 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GTGGCTGGAAGAGGAGGTGAT 0.478000 16 144 0 0 0.007413 0 0 IRF6 3664 broad.mit.edu 37 1 209969798 209969798 + Missense_Mutation SNP C C G rs121434224 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:209969798C>G ENST00000367021.3 - 4 446 c.274G>C c.(274-276)Gaa>Caa p.E92Q IRF6_ENST00000542854.1_5'UTR NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 92 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.E92K(2) cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) AGGTTGAATTCTCTGCTCTTA 0.532000 HNSCC(57;0.16) 21 41 0 0 0.010504 0 0 MST1R 4486 broad.mit.edu 37 3 49935953 49935953 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:49935953C>T ENST00000296474.3 - 4 1744 c.1717G>A c.(1717-1719)Gag>Aag p.E573K MST1R_ENST00000344206.4_Missense_Mutation_p.E573K NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 573 IPT/TIG 1. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AGCCATACCTCAGTAAGCTTA 0.582000 17 40 0 0 0.007413 0 0 COL6A6 131873 broad.mit.edu 37 3 130300643 130300643 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:130300643G>C ENST00000358511.6 + 8 3817 c.3786G>C c.(3784-3786)ctG>ctC p.L1262L COL6A6_ENST00000453409.2_Silent_p.L1262L NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1262 Nonhelical region.|VWFA 7. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 AAAACATACTGAATAGCTTGA 0.413000 61 164 0 0 0.014410 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95434085 95434085 + Missense_Mutation SNP A A G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:95434085A>G ENST00000324972.6 + 2 237 c.44A>G c.(43-45)aAg>aGg p.K15R DYNC1I1_ENST00000447467.2_Missense_Mutation_p.K15R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.K15R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.K15R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.K15R NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 15 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) GAGCGCAAAAAGCAGCGCTTA 0.393000 3 5 0 0 0.004672 0 0 SUSD1 64420 broad.mit.edu 37 9 114875121 114875121 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:114875121G>C ENST00000374270.3 - 7 1086 c.914C>G c.(913-915)tCa>tGa p.S305* SUSD1_ENST00000374263.3_Nonsense_Mutation_p.S305*|SUSD1_ENST00000374264.2_Nonsense_Mutation_p.S305* NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 305 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 ATTAAACAGTGATACATCATT 0.343000 23 52 0 0 0.003954 0 0 TBC1D24 57465 broad.mit.edu 37 16 2547031 2547031 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:2547031C>T ENST00000567020.1 + 2 1022 c.882C>T c.(880-882)ctC>ctT p.L294L TBC1D24_ENST00000293970.5_Silent_p.L294L|TBC1D24_ENST00000434757.2_Silent_p.L294L|RP11-20I23.1_ENST00000564543.1_Silent_p.L294L NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 294 neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 CCATCCGCCTCTTCTCCCGCA 0.597000 21 51 0 0 0.012319 0 0 GSK3A 2931 broad.mit.edu 37 19 42737444 42737444 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:42737444G>A ENST00000398249.4 - 6 2463 c.750C>T c.(748-750)atC>atT p.I250I GSK3A_ENST00000222330.3_Silent_p.I332I P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 332 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 19 Prostate(69;0.00682) TCACCTTGATGATCTCCACCA 0.642000 4 10 0 0 0.001984 0 0 C5orf51 285636 broad.mit.edu 37 5 41911231 41911231 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:41911231C>G ENST00000381647.2 + 4 455 c.436C>G c.(436-438)Ctt>Gtt p.L146V C5orf51_ENST00000505931.2_3'UTR NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 146 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TTGTCATTCTCTTACCAAAAG 0.388000 16 44 0 0 0.004007 0 0 MSL1 339287 broad.mit.edu 37 17 38285648 38285648 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:38285648G>C ENST00000398532.3 + 3 1458 c.1143G>C c.(1141-1143)ttG>ttC p.L381F MSL1_ENST00000579565.1_Missense_Mutation_p.L118F|MSL1_ENST00000578648.1_Missense_Mutation_p.L381F|MSL1_ENST00000577454.1_Missense_Mutation_p.L381F Q68DK7 MSL1_HUMAN male-specific lethal 1 homolog (Drosophila) 381 histone H4-K16 acetylation MSL complex endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 7 AACGTGAATTGAGGAGCCAAG 0.473000 19 109 0 0 0.008871 0 0 SUN2 25777 broad.mit.edu 37 22 39138314 39138314 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:39138314G>A ENST00000405510.1 - 10 1418 c.1060C>T c.(1060-1062)Cgc>Tgc p.R354C SUN2_ENST00000216064.4_Missense_Mutation_p.R354C|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R343C|SUN2_ENST00000406622.1_Missense_Mutation_p.R354C|SUN2_ENST00000405018.1_Missense_Mutation_p.R375C NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 354 centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 ACCTGGATGCGAGCAGCAGTT 0.607000 9 43 0 0 0.006214 0 0 MANBA 4126 broad.mit.edu 37 4 103585971 103585971 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:103585971C>T ENST00000226578.4 - 11 1455 c.1356G>A c.(1354-1356)tgG>tgA p.W452* MANBA_ENST00000505239.1_Nonsense_Mutation_p.W395* NM_005908.3 NP_005899.3 O00462 MANBA_HUMAN mannosidase, beta A, lysosomal 452 carbohydrate metabolic process|protein modification process lysosome beta-mannosidase activity|cation binding cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;4.44e-08) TATTGCCACTCCATATGATGA 0.343000 24 73 0 0 0.005443 0 0 KLHL28 54813 broad.mit.edu 37 14 45414609 45414609 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:45414609C>G ENST00000396128.4 - 2 642 c.523G>C c.(523-525)Gag>Cag p.E175Q KLHL28_ENST00000355081.2_Missense_Mutation_p.E189Q NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 175 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 TGTGTAAGCTCAAAAAACTCT 0.383000 4 103 0 0 0.001168 0 0 SPRTN 83932 broad.mit.edu 37 1 231489093 231489093 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:231489093G>A ENST00000295050.7 + 5 1792 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_001010984.2|NM_032018.5 NP_001010984.1|NP_114407.3 SprT-like N-terminal domain AGTCAAAAGCGAAGAAAGTCT 0.403000 4 34 0 0 0.000602 0 0 LPO 4025 broad.mit.edu 37 17 56342211 56342211 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:56342211C>G ENST00000262290.4 + 10 1711 c.1395C>G c.(1393-1395)cgC>cgG p.R465R LPO_ENST00000421678.2_Silent_p.R382R|LPO_ENST00000582328.1_Silent_p.R382R|LPO_ENST00000543544.1_Silent_p.R406R NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 465 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 TCGCCTTCCGCTTTGGCCACT 0.517000 15 103 0 0 0.004990 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149784945 149784945 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:149784945C>T ENST00000331491.1 - 1 291 c.292G>A c.(292-294)Gag>Aag p.E98K NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 98 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 AGGTAGGCCTCGCTGGCCTCC 0.642000 14 50 0 0 0.008871 0 0 KYNU 8942 broad.mit.edu 37 2 143790866 143790866 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:143790866C>G ENST00000264170.4 + 12 1275 c.1017C>G c.(1015-1017)gtC>gtG p.V339V KYNU_ENST00000409512.1_Silent_p.V339V NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 339 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) TTTTGTTGGTCTGTTCCTTGC 0.378000 10 179 0 0 0.010729 0 0 SOAT1 6646 broad.mit.edu 37 1 179311320 179311320 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:179311320G>C ENST00000367619.3 + 8 995 c.852G>C c.(850-852)gaG>gaC p.E284D SOAT1_ENST00000540564.1_Missense_Mutation_p.E226D|SOAT1_ENST00000539888.1_Missense_Mutation_p.E219D|SOAT1_ENST00000535686.1_Missense_Mutation_p.E20D NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 284 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) CAGCTAAGGAGAAATCAAGTA 0.448000 9 40 0 0 0.004482 0 0 SGIP1 84251 broad.mit.edu 37 1 67155939 67155939 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:67155939G>A ENST00000371037.4 + 17 1587 c.1510G>A c.(1510-1512)Gaa>Aaa p.E504K SGIP1_ENST00000371035.3_Missense_Mutation_p.E294K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E304K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E305K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E535K NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 504 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 AGCGCGGGCTGAAAGCACTTC 0.453000 55 140 0 0 0.014410 0 0 NSFL1C 55968 broad.mit.edu 37 20 1426360 1426360 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:1426360G>A ENST00000216879.4 - 8 1768 c.901C>T c.(901-903)Cgg>Tgg p.R301W NSFL1C_ENST00000350991.4_Missense_Mutation_p.R303W|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R270W|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R190W|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R303W NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 301 UBX. chromosome|Golgi stack|nucleus lipid binding|protein binding p.R301W(1) breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TCTGCAAGCCGAATTTGGATG 0.517000 26 258 0 0 0.010818 0 0 KCNQ2 3785 broad.mit.edu 37 20 62038284 62038284 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:62038284C>A ENST00000354587.3 - 17 2532 c.2356G>T c.(2356-2358)Gag>Tag p.E786* KCNQ2_ENST00000344462.3_Nonsense_Mutation_p.E774*|KCNQ2_ENST00000360480.3_Nonsense_Mutation_p.E750*|KCNQ2_ENST00000357249.2_Nonsense_Mutation_p.E760*|KCNQ2_ENST00000359125.2_Nonsense_Mutation_p.E778*|KCNQ2_ENST00000430658.1_Nonsense_Mutation_p.E747*|KCNQ2_ENST00000370224.1_Nonsense_Mutation_p.E786*|KCNQ2_ENST00000370226.1_Nonsense_Mutation_p.E748*|KCNQ2_ENST00000359689.1_Nonsense_Mutation_p.E778* O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 778 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AGGTTCCCCTCGGGGGGCCTG 0.701000 4 10 5.9392e-07 6.18954e-07 0.001168 1 0 CNTRL 11064 broad.mit.edu 37 9 123924347 123924347 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:123924347G>C ENST00000373855.1 + 34 5481 c.5221G>C c.(5221-5223)Gag>Cag p.E1741Q CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1741Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1189Q Q7Z7A1 CNTRL_HUMAN centriolin 1741 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 ACTGGAGTTAGAGAATTTGCA 0.413000 20 70 0 0 0.014323 0 0 SIX3 6496 broad.mit.edu 37 2 45169453 45169453 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:45169453C>T ENST00000260653.3 + 1 552 c.210C>T c.(208-210)tcC>tcT p.S70S NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 70 visual perception nucleus haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) gcggcggcTCCAGGGCCCCCC 0.771000 4 9 0 0 0.001168 0 0 CDKN2A 1029 broad.mit.edu 37 9 21968242 21968242 + Splice_Site SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:21968242C>T ENST00000579755.1 - 3 793 c.e3-1 CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(6)|p.0(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TCGGGGATGTCTGCAGAGGGC 0.542000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 30 29 0 0 0.010818 0 0 APOB 338 broad.mit.edu 37 2 21226113 21226113 + Missense_Mutation SNP C C T rs121918385 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:21226113C>T ENST00000233242.1 - 29 12308 c.12181G>A c.(12181-12183)Gag>Aag p.E4061K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4061 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAAGCTGCCTCTTCTTCCCAA 0.453000 107 295 0 0 0.014410 0 0 ATRN 8455 broad.mit.edu 37 20 3529964 3529964 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:3529964C>G ENST00000262919.5 + 6 1159 c.1091C>G c.(1090-1092)tCa>tGa p.S364* ATRN_ENST00000446916.2_Nonsense_Mutation_p.S364* NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 364 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TTCAACCACTCAGATTATAAC 0.333000 21 99 0 0 0.012319 0 0 CUL1 8454 broad.mit.edu 37 7 148495716 148495716 + Nonsense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:148495716G>T ENST00000325222.4 + 20 2362 c.2083G>T c.(2083-2085)Gaa>Taa p.E695* CUL1_ENST00000602748.1_Nonsense_Mutation_p.E695*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.E695* NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 695 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) ACAGAAGCAGGAACAAGAAAC 0.418000 14 72 1.15088e-07 1.20289e-07 0.004007 1 0 PARM1 25849 broad.mit.edu 37 4 75938051 75938051 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:75938051C>G ENST00000307428.7 + 2 672 c.460C>G c.(460-462)Cca>Gca p.P154A RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 154 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CCCTCAAGCTCCAGCCTCATC 0.587000 59 204 0 0 0.014410 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457124 6457124 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6457124G>A ENST00000358945.3 - 13 2431 c.1991C>T c.(1990-1992)cCt>cTt p.P664L SCNN1A_ENST00000228916.2_Missense_Mutation_p.P642L|SCNN1A_ENST00000540037.1_Missense_Mutation_p.P342L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.P665L|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.P701L P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 642 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) ggcataggcagggggaggggc 0.687000 4 9 0 0 0.009096 0 0 AATK 9625 broad.mit.edu 37 17 79094803 79094803 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:79094803C>T ENST00000326724.4 - 11 2957 c.2933G>A c.(2932-2934)cGg>cAg p.R978Q AATK_ENST00000417379.1_Missense_Mutation_p.R875Q NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 978 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGTGGAGAGCCGTGTCTCGGG 0.652000 4 24 0 0 0.009096 0 0 NET1 10276 broad.mit.edu 37 10 5495245 5495245 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:5495245C>T ENST00000355029.4 + 7 769 c.627C>T c.(625-627)atC>atT p.I209I NET1_ENST00000380359.3_Silent_p.I155I|NET1_ENST00000542715.1_Silent_p.I28I NM_001047160.1 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 209 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 AGTTGTCCATCATGTCAGAAG 0.408000 49 164 0 0 0.014410 0 0 BAD 572 broad.mit.edu 37 11 64037600 64037600 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64037600G>C ENST00000544785.1 - 2 397 c.397C>G c.(397-399)Cag>Gag p.Q133E BAD_ENST00000309032.3_3'UTR|BAD_ENST00000394532.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 GCATAGGCCTGAGGGAAGTAC 0.602000 5 20 0 0 0.001168 0 0 PCLO 27445 broad.mit.edu 37 7 82583504 82583504 + Silent SNP A A C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:82583504A>C ENST00000423517.2 - 5 7102 c.6765T>G c.(6763-6765)ggT>ggG p.G2255G PCLO_ENST00000333891.8_Silent_p.G2255G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2186 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 CACTAGCTCTACCATCTGGTG 0.393000 9 76 0 0 0.004482 0 0 REXO1 57455 broad.mit.edu 37 19 1818554 1818554 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:1818554G>A ENST00000170168.4 - 10 3037 c.2943C>T c.(2941-2943)ctC>ctT p.L981L NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 981 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) AAGAGGACACGAGGTACTCGG 0.672000 3 18 0 0 0.009096 0 0 GSG1 83445 broad.mit.edu 37 12 13243458 13243458 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:13243458C>T ENST00000337630.6 - 2 371 c.304G>A c.(304-306)Gag>Aag p.E102K GSG1_ENST00000537302.1_Missense_Mutation_p.E102K|GSG1_ENST00000351606.6_Missense_Mutation_p.E115K|GSG1_ENST00000396302.3_Missense_Mutation_p.E102K|GSG1_ENST00000396310.2_Missense_Mutation_p.E99K|GSG1_ENST00000324458.8_Missense_Mutation_p.E115K|GSG1_ENST00000457134.2_Missense_Mutation_p.E102K|GSG1_ENST00000432710.2_Missense_Mutation_p.E115K NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 102 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) ACAGTTTCCTCACAGGATAGC 0.542000 21 53 0 0 0.012319 0 0 CADPS2 93664 broad.mit.edu 37 7 122261717 122261717 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:122261717C>G ENST00000334010.7 - 5 1343 c.922G>C c.(922-924)Gag>Cag p.E308Q CADPS2_ENST00000313070.7_Missense_Mutation_p.E308Q|CADPS2_ENST00000412584.2_Missense_Mutation_p.E308Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.E308Q NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 308 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GACCGCAACTCTTCTATATAC 0.299000 9 48 0 0 0.008291 0 0 CRISP3 10321 broad.mit.edu 37 6 49698947 49698947 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:49698947C>T ENST00000433368.2 - 7 677 c.608G>A c.(607-609)aGa>aAa p.R203K CRISP3_ENST00000393666.1_Missense_Mutation_p.R180K|CRISP3_ENST00000423399.2_Missense_Mutation_p.R90K|CRISP3_ENST00000371159.4_Missense_Mutation_p.R211K|CRISP3_ENST00000263045.4_Missense_Mutation_p.R193K NM_001190986.1 NP_001177915.1 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 180 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GACATATAGTCTATTAGCCCA 0.333000 17 54 0 0 0.007413 0 0 USP13 8975 broad.mit.edu 37 3 179481862 179481862 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:179481862C>G ENST00000263966.3 + 18 2636 c.2165C>G c.(2164-2166)tCt>tGt p.S722C USP13_ENST00000496897.1_Missense_Mutation_p.S657C NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 722 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TTTGGTGCTTCTGGACTGGAT 0.502000 31 98 0 0 0.010818 0 0 FAM154B 283726 broad.mit.edu 37 15 82575272 82575272 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:82575272G>C ENST00000339465.5 + 3 1135 c.1066G>C c.(1066-1068)Gag>Cag p.E356Q FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.E341Q NM_001008226.1 NP_001008227.1 Q658L1 F154B_HUMAN family with sequence similarity 154, member B 356 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2) 19 GTACTCTGTAGAGTACACACC 0.398000 11 59 0 0 0.001855 0 0 S100Z 170591 broad.mit.edu 37 5 76171314 76171314 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:76171314G>A ENST00000317593.4 + 3 362 c.130G>A c.(130-132)Gaa>Aaa p.E44K S100Z_ENST00000513010.1_Missense_Mutation_p.E44K NM_130772.3 NP_570128.2 Q8WXG8 S100Z_HUMAN S100 calcium binding protein Z 44 EF-hand 1. calcium ion binding large_intestine(1)|ovary(1) 2 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40) AGAGCTCACGGAATTCCTCTC 0.493000 32 111 0 0 0.004878 0 0 C2orf71 388939 broad.mit.edu 37 2 29294902 29294902 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:29294902C>T ENST00000331664.5 - 1 2225 c.2226G>A c.(2224-2226)gaG>gaA p.E742E NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 742 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TCCTCAGACTCTCCGTGGGAC 0.562000 27 65 0 0 0.005443 0 0 LRRC7 57554 broad.mit.edu 37 1 70505167 70505167 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:70505167G>C ENST00000310961.5 + 22 3979 c.3561G>C c.(3559-3561)gtG>gtC p.V1187V LRRC7_ENST00000415775.2_Silent_p.V466V|LRRC7_ENST00000035383.5_Silent_p.V1182V Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1182 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATCAAGAAGTGAAAGCTCAGG 0.502000 15 53 0 0 0.004990 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74394602 74394602 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:74394602G>A ENST00000429810.2 - 0 363 AAGTGCCCGTGATTCCACCTC 0.577000 14 144 0 0 0.003163 0 0 KIF23 9493 broad.mit.edu 37 15 69733362 69733362 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:69733362G>C ENST00000260363.4 + 18 2440 c.2323G>C c.(2323-2325)Gag>Cag p.E775Q KIF23_ENST00000559279.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.E775Q|KIF23_ENST00000558585.1_Intron NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 775 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 TGAAGGCAGGGAGGTGGTTCC 0.448000 5 42 0 0 0.001168 0 0 SPATA6L 55064 broad.mit.edu 37 9 4605410 4605410 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:4605410C>T ENST00000381890.5 - 9 941 c.845G>A c.(844-846)aGa>aAa p.R282K SPATA6L_ENST00000454239.2_Silent_p.K342K|SPATA6L_ENST00000381895.5_Silent_p.K219K|SPATA6L_ENST00000475086.1_Silent_p.K284K B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 0 CATGGATATTCTTCCATGTGG 0.433000 20 79 0 0 0.012319 0 0 BIN2 51411 broad.mit.edu 37 12 51685669 51685669 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:51685669G>C ENST00000267012.4 - 10 1282 c.1221C>G c.(1219-1221)atC>atG p.I407M BIN2_ENST00000452142.2_Missense_Mutation_p.I375M|BIN2_ENST00000544402.1_Missense_Mutation_p.I381M|BIN2_ENST00000604560.1_Missense_Mutation_p.I380M NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 407 cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 AGGTCCTCTGGATAGAGGCTC 0.587000 29 93 0 0 0.009535 0 0 LRRC8C 84230 broad.mit.edu 37 1 90178699 90178699 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:90178699G>C ENST00000370454.4 + 3 825 c.570G>C c.(568-570)aaG>aaC p.K190N LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 190 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) ACAACAGGAAGAACAACATGA 0.453000 17 78 0 0 0.004007 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140764372 140764372 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140764372G>C ENST00000518325.1 + 1 1906 c.1906G>C c.(1906-1908)Gat>Cat p.D636H PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGACAGAGATGCCCTCAA 0.652000 16 46 0 0 0.003163 0 0 LRP2 4036 broad.mit.edu 37 2 170115654 170115654 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:170115654G>T ENST00000263816.3 - 17 2679 c.2394C>A c.(2392-2394)ctC>ctA p.L798L LRP2_ENST00000443831.1_Silent_p.L661L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 798 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTGTCCAATAGAGATTCTTTG 0.378000 38 66 2.05212e-20 2.20595e-20 0.005524 1 0 PDE2A 5138 broad.mit.edu 37 11 72290599 72290599 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:72290599G>T ENST00000334456.5 - 26 2480 c.2235C>A c.(2233-2235)atC>atA p.I745I PDE2A_ENST00000540345.1_Silent_p.I736I|PDE2A_ENST00000444035.2_Silent_p.I736I|PDE2A_ENST00000418754.2_Silent_p.I630I|PDE2A_ENST00000376450.3_Silent_p.I489I|PDE2A_ENST00000544570.1_Silent_p.I738I NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 745 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AATGATCAAAGATGTTGCAGC 0.632000 14 70 4.7546e-09 4.98399e-09 0.004007 1 0 PPBPP2 10895 broad.mit.edu 37 4 74919850 74919850 + RNA SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:74919850C>T ENST00000513150.1 - 0 1266 NR_026769.1 CAGAGTGGCTCTGCAAGAGAG 0.428000 4 25 0 0 0.000602 0 0 BSN 8927 broad.mit.edu 37 3 49692476 49692476 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:49692476C>G ENST00000296452.4 + 5 5601 c.5487C>G c.(5485-5487)ctC>ctG p.L1829L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 1829 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GCATTGGCCTCAAGCCAGGCC 0.612000 6 96 0 0 0.003080 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43517535 43517535 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:43517535G>A ENST00000430334.3 - 10 3028 c.2895C>T c.(2893-2895)ctC>ctT p.L965L PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Silent_p.L876L NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 965 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) TTACCTGTTGGAGGTCAGCAA 0.473000 16 105 0 0 0.003163 0 0 HGF 3082 broad.mit.edu 37 7 81334827 81334827 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:81334827C>G ENST00000222390.5 - 17 2115 c.1889G>C c.(1888-1890)cGa>cCa p.R630P HGF_ENST00000457544.2_Missense_Mutation_p.R625P NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 630 Peptidase S1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 ATGTGCCACTCGTAATAGGCC 0.368000 8 53 0 0 0.003080 0 0 COL15A1 1306 broad.mit.edu 37 9 101763192 101763192 + Missense_Mutation SNP G G C rs137949756 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:101763192G>C ENST00000375001.3 + 7 1447 c.1024G>C c.(1024-1026)Ggc>Cgc p.G342R NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 342 Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.G342S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TACTGACAGCGGCTCAGGGGC 0.468000 OREG0019364 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 54 0 0 0.008871 0 0 VWF 7450 broad.mit.edu 37 12 6103292 6103292 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6103292G>A ENST00000261405.5 - 37 6588 c.6334C>T c.(6334-6336)Cag>Tag p.Q2112* NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2112 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GTCCATTCCTGAACAAGTGTT 0.542000 12 51 0 0 0.002450 0 0 DCTN2 10540 broad.mit.edu 37 12 57924487 57924487 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:57924487C>T ENST00000548249.1 - 14 1458 c.1191G>A c.(1189-1191)aaG>aaA p.K397K DCTN2_ENST00000434715.3_Silent_p.K402K|DCTN2_ENST00000543672.1_Silent_p.K402K|DCTN2_ENST00000537439.1_Silent_p.K374K NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 397 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 TTCCCAGCTTCTTCATCCGTT 0.473000 11 143 0 0 0.010729 0 0 BCR 613 broad.mit.edu 37 22 23523385 23523385 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:23523385G>A ENST00000305877.8 + 1 989 c.238G>A c.(238-240)Gcg>Acg p.A80T BCR_ENST00000359540.3_Missense_Mutation_p.A80T|BCR_ENST00000398512.5_Missense_Mutation_p.A80T NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 80 Kinase. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 CTTCCGGCGCGCGGCGCAGGC 0.736000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 3 4 0 0 0.004672 0 0 MXD4 10608 broad.mit.edu 37 4 2259719 2259719 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:2259719C>G ENST00000337190.2 - 3 497 c.184G>C c.(184-186)Gaa>Caa p.E62Q MXD4_ENST00000515378.1_5'UTR NM_006454.2 NP_006445.1 Q14582 MAD4_HUMAN MAX dimerization protein 4 62 negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|endometrium(1)|kidney(1)|lung(3) 6 CTGTGCTTTTCTAGCTCGTTG 0.582000 13 47 0 0 0.003163 0 0 ARPP21 10777 broad.mit.edu 37 3 35778790 35778790 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:35778790C>A ENST00000187397.4 + 16 2036 c.1580C>A c.(1579-1581)tCc>tAc p.S527Y ARPP21_ENST00000417925.1_Missense_Mutation_p.S493Y|ARPP21_ENST00000458225.1_Missense_Mutation_p.S493Y|ARPP21_ENST00000444190.1_Missense_Mutation_p.S473Y|ARPP21_ENST00000337271.5_Missense_Mutation_p.S473Y NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 527 Gln-rich. cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 CAGCAGCCCTCCCCGCAGCCC 0.642000 21 41 5.45024e-15 5.82388e-15 0.003330 1 0 USO1 8615 broad.mit.edu 37 4 76703974 76703974 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:76703974C>G ENST00000538159.1 + 9 824 c.824C>G c.(823-825)tCt>tGt p.S275C USO1_ENST00000514213.2_Missense_Mutation_p.S258C O60763 USO1_HUMAN USO1 vesicle transport factor 273 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTGGCTGGTCTGCACAGAAA 0.328000 5 30 0 0 0.000602 0 0 RNF43 54894 broad.mit.edu 37 17 56440747 56440747 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:56440747C>T ENST00000584437.1 - 4 2426 c.471G>A c.(469-471)ctG>ctA p.L157L RNF43_ENST00000583753.1_Silent_p.L116L|RNF43_ENST00000500597.2_Silent_p.L116L|RNF43_ENST00000577625.1_Silent_p.L30L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Silent_p.L30L|RNF43_ENST00000577716.1_Silent_p.L157L|RNF43_ENST00000407977.2_Silent_p.L157L Q68DV7 RNF43_HUMAN ring finger protein 43 157 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGCCAGGTCAGCCCCAGCG 0.567000 17 165 0 0 0.010504 0 0 CFLAR 8837 broad.mit.edu 37 2 202025553 202025553 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:202025553G>A ENST00000309955.2 + 9 1707 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000341582.6_Missense_Mutation_p.E363K|CFLAR_ENST00000479953.2_Missense_Mutation_p.E302K|CFLAR_ENST00000340870.5_Missense_Mutation_p.E398K|CFLAR_ENST00000457277.1_Missense_Mutation_p.E398K|CFLAR_ENST00000423241.2_Missense_Mutation_p.E398K|CFLAR_ENST00000443227.1_Missense_Mutation_p.E302K NM_003879.5 NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 398 Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 AGTTCACCGAGAAGCTGACTT 0.577000 15 33 0 0 0.003163 0 0 C8G 733 broad.mit.edu 37 9 139840549 139840549 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:139840549G>A ENST00000224181.3 + 4 419 c.359G>A c.(358-360)cGa>cAa p.R120Q NM_000606.2 NP_000597.2 P07360 CO8G_HUMAN complement component 8, gamma polypeptide 120 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex retinol binding|transporter activity NS(1)|prostate(1)|skin(1) 3 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107) CGAGACGCCCGAGGGGCTGTG 0.642000 16 23 0 0 0.012319 0 0 UBR4 23352 broad.mit.edu 37 1 19407997 19407997 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:19407997C>G ENST00000375267.2 - 103 15082 c.15079G>C c.(15079-15081)Gag>Cag p.E5027Q UBR4_ENST00000429347.2_Missense_Mutation_p.E550Q|UBR4_ENST00000543981.1_Missense_Mutation_p.E691Q|UBR4_ENST00000375224.1_Missense_Mutation_p.E734Q|UBR4_ENST00000375254.3_Missense_Mutation_p.E5027Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E5003Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E5020Q|UBR4_ENST00000375225.3_Missense_Mutation_p.E102Q Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 5027 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) AAGGCACTCTCCACCCACTTC 0.517000 92 195 0 0 0.014410 0 0 FEM1C 56929 broad.mit.edu 37 5 114860317 114860317 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:114860317C>T ENST00000274457.3 - 3 2103 c.1542G>A c.(1540-1542)ctG>ctA p.L514L NM_020177.2 NP_064562.1 Q96JP0 FEM1C_HUMAN fem-1 homolog c (C. elegans) 514 cytoplasm breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 18 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) CACATTCTATCAGTATTGCAG 0.443000 5 222 0 0 0.000602 0 0 SPOCK1 6695 broad.mit.edu 37 5 136403477 136403477 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:136403477G>A ENST00000394945.1 - 6 685 c.516C>T c.(514-516)ctC>ctT p.L172L SPOCK1_ENST00000282223.7_Silent_p.L172L NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 172 Kazal-like. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding p.L172L(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAGGGTGGCGAGGCTTTTGC 0.527000 48 159 0 0 0.014410 0 0 PCDH15 65217 broad.mit.edu 37 10 55782797 55782797 + Missense_Mutation SNP C C G rs146468805 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:55782797C>G ENST00000373965.2 - 20 2796 c.2402G>C c.(2401-2403)gGa>gCa p.G801A PCDH15_ENST00000395445.1_Missense_Mutation_p.G801A|PCDH15_ENST00000437009.1_Missense_Mutation_p.G723A|PCDH15_ENST00000414778.1_Missense_Mutation_p.G799A|PCDH15_ENST00000373955.1_Missense_Mutation_p.G794A|PCDH15_ENST00000395438.1_Missense_Mutation_p.G794A|PCDH15_ENST00000409834.1_Missense_Mutation_p.G405A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.G794A|PCDH15_ENST00000395433.1_Missense_Mutation_p.G772A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.G757A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G794A|PCDH15_ENST00000320301.6_Missense_Mutation_p.G794A NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 794 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTGTACTGCTCCATCTGTTGC 0.423000 HNSCC(58;0.16) 27 99 0 0 0.006320 0 0 ZNF280B 140883 broad.mit.edu 37 22 22843165 22843165 + Missense_Mutation SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:22843165T>C ENST00000360412.2 - 4 1334 c.559A>G c.(559-561)Agg>Ggg p.R187G ZNF280B_ENST00000406426.1_Missense_Mutation_p.R187G NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R187G(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) AGTTTAGCCCTTTTGGGATTT 0.388000 4 189 0 0 0.009096 0 0 PAIP1 10605 broad.mit.edu 37 5 43535702 43535702 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:43535702C>T ENST00000306846.3 - 7 1245 c.1013G>A c.(1012-1014)gGa>gAa p.G338E PAIP1_ENST00000436644.2_Missense_Mutation_p.G259E|PAIP1_ENST00000514514.1_Missense_Mutation_p.G259E|PAIP1_ENST00000338972.4_Missense_Mutation_p.G226E NM_006451.4|NM_182789.3 NP_006442.2|NP_877590.1 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 338 MIF4G. mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Lung NSC(6;2.07e-05) ATCCATCTTTCCTTTTTCCTT 0.328000 15 46 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179428814 179428814 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:179428814G>C ENST00000589042.1 - 326 82269 c.82045C>G c.(82045-82047)Ctg>Gtg p.L27349V TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L25708V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L18409V|TTN_ENST00000342175.6_Missense_Mutation_p.L18476V|TTN_ENST00000460472.2_Missense_Mutation_p.L18284V|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L24781V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25708 Fibronectin type-III 99. 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) CTGAGTTTCAGAATATATTGT 0.413000 29 173 0 0 0.007291 0 0 TRMT1 55621 broad.mit.edu 37 19 13226280 13226280 + Splice_Site SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:13226280C>T ENST00000592062.1 - 6 1024 c.453_splice c.e6-1 p.E152_splice TRMT1_ENST00000357720.4_Splice_Site_p.E152_splice|TRMT1_ENST00000437766.1_Splice_Site_p.E152_splice|TRMT1_ENST00000221504.8_Splice_Site_p.E152_splice Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 152 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TGCAGGCCTTCCTGTTGGAGT 0.587000 8 29 0 0 0.006214 0 0 NTRK2 4915 broad.mit.edu 37 9 87482318 87482318 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:87482318C>T ENST00000304053.6 + 14 2088 c.1605C>T c.(1603-1605)atC>atT p.I535I NTRK2_ENST00000323115.4_Silent_p.I519I|NTRK2_ENST00000376213.1_Silent_p.I519I|NTRK2_ENST00000376214.1_Silent_p.I535I|NTRK2_ENST00000277120.3_Silent_p.I535I|NTRK2_ENST00000376208.1_Silent_p.I519I NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 519 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 ACTTTGGCATCACCAACAGTC 0.453000 TSP Lung(25;0.17) 35 93 0 0 0.004289 0 0 RTKN 6242 broad.mit.edu 37 2 74657432 74657432 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:74657432C>T ENST00000305557.5 - 6 1038 c.453G>A c.(451-453)atG>atA p.M151I RTKN_ENST00000233330.6_Missense_Mutation_p.M114I|RTKN_ENST00000272430.5_Missense_Mutation_p.M164I NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 164 apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 CCACTAGGATCATCTCTGTGT 0.547000 7 36 0 0 0.001984 0 0 LCMT2 9836 broad.mit.edu 37 15 43620956 43620956 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:43620956C>T ENST00000305641.5 - 1 1847 c.1732G>A c.(1732-1734)Gac>Aac p.D578N LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.D157N NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 578 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GGCTGGATGTCTACTGACTCC 0.517000 35 81 0 0 0.005524 0 0 BSDC1 55108 broad.mit.edu 37 1 32841914 32841914 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:32841914C>G ENST00000341071.7 - 9 1167 c.1156G>C c.(1156-1158)Gag>Cag p.E386Q BSDC1_ENST00000455895.2_Missense_Mutation_p.E369Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.E386Q|BSDC1_ENST00000526031.1_Missense_Mutation_p.E274Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.E313Q|BSDC1_ENST00000449308.1_Missense_Mutation_p.E369Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.E308Q Q9NW68 BSDC1_HUMAN BSD domain containing 1 369 protein binding breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GAGTTCAGCTCAAACACCCGT 0.617000 47 121 0 0 0.014410 0 0 PUS7 54517 broad.mit.edu 37 7 105146708 105146708 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:105146708G>A ENST00000356362.2 - 3 625 c.411C>T c.(409-411)ttC>ttT p.F137F PUS7_ENST00000469408.1_Silent_p.F137F NM_019042.3 NP_061915.2 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae) 137 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 CATGAACAACGAAGTCGGAGT 0.363000 7 34 0 0 0.001984 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:29977327T>C ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 3 82 0 0 0.001168 0 0 USP31 57478 broad.mit.edu 37 16 23113736 23113736 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:23113736C>G ENST00000219689.7 - 6 1137 c.1138G>C c.(1138-1140)Gat>Cat p.D380H NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 380 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) TCGTCTGTATCACAAAAGGAA 0.383000 29 70 0 0 0.008361 0 0 TMTC3 160418 broad.mit.edu 37 12 88547232 88547232 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:88547232G>C ENST00000266712.6 + 3 574 c.354G>C c.(352-354)aaG>aaC p.K118N NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 118 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 TGGACAACAAGAGTAGTGTGA 0.328000 19 67 0 0 0.008871 0 0 PDZD2 23037 broad.mit.edu 37 5 32091009 32091009 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:32091009G>C ENST00000438447.1 + 20 7843 c.7455G>C c.(7453-7455)ctG>ctC p.L2485L PDZD2_ENST00000282493.3_Silent_p.L2485L O15018 PDZD2_HUMAN PDZ domain containing 2 2485 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TCCAGGAGCTGAGAGCCTTGA 0.607000 30 59 0 0 0.007291 0 0 WDR90 197335 broad.mit.edu 37 16 706411 706411 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:706411C>G ENST00000549091.1 + 18 2168 c.2076C>G c.(2074-2076)taC>taG p.Y692* WDR90_ENST00000293879.4_Nonsense_Mutation_p.Y692* NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 692 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCCGGGTGTACCACATGCTGG 0.697000 5 19 0 0 0.001168 0 0 LMX1A 4009 broad.mit.edu 37 1 165322354 165322354 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:165322354G>A ENST00000342310.3 - 3 604 c.222C>T c.(220-222)ttC>ttT p.F74F LMX1A_ENST00000294816.2_Silent_p.F74F|LMX1A_ENST00000367893.4_Silent_p.F74F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 74 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TGTCCCGGTAGAAGCAGGTGG 0.602000 16 91 0 0 0.004990 0 0 UFD1L 7353 broad.mit.edu 37 22 19463117 19463117 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:19463117G>C ENST00000263202.9 - 2 141 c.12C>G c.(10-12)ttC>ttG p.F4L UFD1L_ENST00000399523.1_Missense_Mutation_p.F4L|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000360834.4_Missense_Mutation_p.F4L NM_001035247.2|NM_005659.6 NP_001030324.2|NP_005650.2 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1 like (yeast) 4 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) CGAACATGTTGAAAGAGAACT 0.423000 14 61 0 0 0.001855 0 0 WDR77 79084 broad.mit.edu 37 1 111990152 111990152 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:111990152G>A ENST00000235090.5 - 3 554 c.348C>T c.(346-348)gtC>gtT p.V116V WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 116 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) AGAACTTGCTGACAATAAGTG 0.453000 11 40 0 0 0.010729 0 0 C2orf62 375307 broad.mit.edu 37 2 219222441 219222441 + Silent SNP C C T rs150544491 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:219222441C>T ENST00000289388.3 + 3 332 c.303C>T c.(301-303)tgC>tgT p.C101C C2orf62_ENST00000481940.1_3'UTR|AC021016.8_ENST00000411433.1_RNA NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 101 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAATGCTCTGCGGAAATTCCC 0.527000 22 69 0 0 0.002780 0 0 DCHS1 8642 broad.mit.edu 37 11 6662141 6662141 + Missense_Mutation SNP C C T rs143767864 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:6662141C>T ENST00000299441.3 - 2 1115 c.704G>A c.(703-705)cGg>cAg p.R235Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGA 0.587000 10 145 0 0 0.013537 0 0 ADAM15 8751 broad.mit.edu 37 1 155026830 155026830 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:155026830G>C ENST00000356955.2 + 6 561 c.460G>C c.(460-462)Gag>Cag p.E154Q ADAM15_ENST00000447332.3_Missense_Mutation_p.E138Q|ADAM15_ENST00000368412.3_Missense_Mutation_p.E154Q|ADAM15_ENST00000355956.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000271836.6_Missense_Mutation_p.E154Q|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000449910.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000531455.1_Missense_Mutation_p.E164Q NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 154 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CTATACCCTGGAGCAGGGGCC 0.547000 24 87 0 0 0.003330 0 0 TPRKB 51002 broad.mit.edu 37 2 73959362 73959362 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:73959362G>C ENST00000318190.7 - 4 429 c.309C>G c.(307-309)ctC>ctG p.L103L TPRKB_ENST00000272424.5_Silent_p.L64L|TPRKB_ENST00000409716.2_Silent_p.L103L Q9Y3C4 TPRKB_HUMAN TP53RK binding protein 64 protein catabolic process cytosol|nucleus protein kinase binding lung(2)|ovary(1)|skin(1) 4 CCAGTTTGTAGAGGTGAACTG 0.358000 23 52 0 0 0.012319 0 0 GCFC2 6936 broad.mit.edu 37 2 75929407 75929407 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:75929407C>G ENST00000321027.3 - 3 670 c.537G>C c.(535-537)gaG>gaC p.E179D GCFC2_ENST00000470503.1_Missense_Mutation_p.E179D|GCFC2_ENST00000541687.1_Missense_Mutation_p.E179D|GCFC2_ENST00000409857.3_Intron NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 179 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity CAGGCTCACTCTCAGGGTCAT 0.423000 40 120 0 0 0.009718 0 0 SLC27A6 28965 broad.mit.edu 37 5 128364098 128364098 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:128364098C>T ENST00000262462.4 + 8 2525 c.1515C>T c.(1513-1515)ttC>ttT p.F505F SLC27A6_ENST00000395266.1_Silent_p.F505F|SLC27A6_ENST00000506176.1_Silent_p.F505F Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 505 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGTTGGATTTCATACAGGAAG 0.343000 18 68 0 0 0.014323 0 0 MAP2K2 5605 broad.mit.edu 37 19 4099284 4099284 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:4099284G>C ENST00000262948.5 - 7 1087 c.834C>G c.(832-834)atC>atG p.I278M MAP2K2_ENST00000394867.4_Missense_Mutation_p.I181M NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 278 Pro-rich.|Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGGCCAAAGATGGCCTCCA 0.697000 3 13 0 0 0.004672 0 0 MKRN3 7681 broad.mit.edu 37 15 23811327 23811327 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:23811327C>T ENST00000314520.3 + 1 874 c.398C>T c.(397-399)tCg>tTg p.S133L MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron NM_005664.3 NP_005655.1 Q13064 MKRN3_HUMAN makorin ring finger protein 3 133 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GGTGGCGTTTCGCCGCCTGGG 0.627000 15 61 0 0 0.003163 0 0 WDR44 54521 broad.mit.edu 37 X 117530989 117530989 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:117530989G>C ENST00000254029.3 + 7 1505 c.1110G>C c.(1108-1110)ttG>ttC p.L370F WDR44_ENST00000371822.5_Missense_Mutation_p.L345F|WDR44_ENST00000371825.3_Missense_Mutation_p.L370F NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 370 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AAATACCTTTGAGTCTTGCAG 0.363000 33 42 0 0 0.003755 0 0 EPPK1 83481 broad.mit.edu 37 8 144941431 144941431 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:144941431G>A ENST00000525985.1 - 2 6062 c.5991C>T c.(5989-5991)ctC>ctT p.L1997L P58107 EPIPL_HUMAN epiplakin 1 1997 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) CCTTCTCGATGAGCTGCTTCT 0.647000 11 30 0 0 0.008291 0 0 NAA16 79612 broad.mit.edu 37 13 41894879 41894879 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:41894879C>G ENST00000379406.3 + 4 645 c.321C>G c.(319-321)ctC>ctG p.L107L NAA16_ENST00000379367.3_Silent_p.L107L|NAA16_ENST00000403412.3_Silent_p.L107L NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 107 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 GAAATGCCCTCAAATTAGATA 0.358000 3 71 0 0 0.009096 0 0 ROCK1 6093 broad.mit.edu 37 18 18566941 18566941 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:18566941C>G ENST00000399799.1 - 19 3214 c.2274G>C c.(2272-2274)ttG>ttC p.L758F NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 758 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TATTTCCAGTCAAATGTTCTA 0.368000 8 111 0 0 0.006214 0 0 LNX1 84708 broad.mit.edu 37 4 54364928 54364928 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:54364928G>C ENST00000306888.2 - 4 821 c.570C>G c.(568-570)ctC>ctG p.L190L LNX1-AS1_ENST00000502373.1_RNA|LNX1_ENST00000263925.7_Silent_p.L286L|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 286 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GCCTAATAGAGAGGCTTTCAC 0.483000 21 60 0 0 0.010504 0 0 ZNF486 90649 broad.mit.edu 37 19 20307969 20307969 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:20307969G>C ENST00000335117.8 + 4 507 c.450G>C c.(448-450)caG>caC p.Q150H CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA NM_052852.3 NP_443084.2 Q96H40 ZN486_HUMAN zinc finger protein 486 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 CAACTACCCAGAGCAAAATAT 0.303000 33 95 0 0 0.013726 0 0 ENPEP 2028 broad.mit.edu 37 4 111470954 111470954 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:111470954G>C ENST00000265162.5 + 17 2755 c.2413G>C c.(2413-2415)Gag>Cag p.E805Q NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 805 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CTACACTCTTGAGCAATACCA 0.413000 22 61 0 0 0.014323 0 0 LRRC48 83450 broad.mit.edu 37 17 17898417 17898417 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:17898417C>A ENST00000313838.8 + 9 1195 c.816C>A c.(814-816)ctC>ctA p.L272L LRRC48_ENST00000411504.2_Silent_p.L272L|LRRC48_ENST00000399187.1_Silent_p.L272L|LRRC48_ENST00000584166.1_Silent_p.L272L|LRRC48_ENST00000399182.1_Silent_p.L272L NM_001130090.1 NP_001123562.1 Q9H069 LRC48_HUMAN leucine rich repeat containing 48 272 cytoplasm breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1) 7 all_neural(463;0.228) TCGGTGAGCTCCTTGAGACAT 0.547000 25 21 3.7963e-18 4.06869e-18 0.003330 1 0 C12orf45 121053 broad.mit.edu 37 12 105388468 105388468 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:105388468G>C ENST00000552951.1 + 4 595 c.552G>C c.(550-552)aaG>aaC p.K184N C12orf45_ENST00000548583.1_Intron|C12orf45_ENST00000280749.5_3'UTR NM_152318.2 NP_689531.2 Q8N5I9 CL045_HUMAN chromosome 12 open reading frame 45 184 large_intestine(1)|lung(2) 3 GTAAAAAAAAGAAATAGTCAA 0.368000 16 34 0 0 0.006122 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275461 130275461 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:130275461G>A ENST00000257359.6 - 9 3368 c.2662C>T c.(2662-2664)Ccc>Tcc p.P888S NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 888 TSP type-1 2. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AATCACAGGGGGCACAGCTGG 0.637000 14 97 0 0 0.004990 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51958028 51958028 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:51958028G>C ENST00000321424.3 - 5 1124 c.1058C>G c.(1057-1059)tCa>tGa p.S353* SIGLEC8_ENST00000340550.5_Nonsense_Mutation_p.S260*|SIGLEC8_ENST00000430817.1_Nonsense_Mutation_p.S244* NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 353 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TACAGGTCTTGAGGTGCCTGC 0.547000 11 97 0 0 0.010729 0 0 C12orf43 64897 broad.mit.edu 37 12 121448689 121448689 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:121448689G>A ENST00000445832.3 - 3 241 c.139C>T c.(139-141)Cag>Tag p.Q47* C12orf43_ENST00000288757.3_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000539736.1_Nonsense_Mutation_p.Q77*|C12orf43_ENST00000537817.1_Nonsense_Mutation_p.Q78*|C12orf43_ENST00000366211.2_Nonsense_Mutation_p.Q35*|C12orf43_ENST00000536407.2_Nonsense_Mutation_p.Q77* Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 77 cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGGGTGGTCTGAAGCTCGTTG 0.527000 50 95 0 0 0.014410 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988249 154988249 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:154988249G>C ENST00000368426.3 + 3 1250 c.1113G>C c.(1111-1113)gaG>gaC p.E371D ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E371D|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E371D|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E405D NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 371 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) ACACAGGCGAGAAGCCCTTTG 0.647000 10 52 0 0 0.010729 0 0 C1orf141 400757 broad.mit.edu 37 1 67558949 67558949 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:67558949G>C ENST00000371007.2 - 8 1051 c.942C>G c.(940-942)ctC>ctG p.L314L C1orf141_ENST00000544837.1_Silent_p.L314L|C1orf141_ENST00000371006.1_Silent_p.L314L NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 314 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 AGAAATTATAGAGTGTATTCC 0.343000 31 98 0 0 0.009535 0 0 PODXL2 50512 broad.mit.edu 37 3 127390296 127390296 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:127390296C>G ENST00000342480.6 + 7 1484 c.1445C>G c.(1444-1446)tCc>tGc p.S482C NM_015720.2 NP_056535.1 Q9NZ53 PDXL2_HUMAN podocalyxin-like 2 482 leukocyte tethering or rolling integral to plasma membrane glycosaminoglycan binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 26 CAGAACTATTCCACAACCAGC 0.632000 23 88 0 0 0.004656 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54675943 54675943 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:54675943G>A ENST00000546500.1 + 4 964 c.349G>A c.(349-351)Gaa>Aaa p.E117K HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E117K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E117K|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.E117K|RP11-968A15.8_ENST00000553061.1_RNA P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 117 Globular B domain.|RRM 2. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 AGAAGACACTGAAGAACATCA 0.378000 16 38 0 0 0.004007 0 0 NPTX1 4884 broad.mit.edu 37 17 78449452 78449452 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:78449452C>G ENST00000306773.4 - 2 668 c.511G>C c.(511-513)Gat>Cat p.D171H NPTX1_ENST00000575212.1_5'UTR NM_002522.3 NP_002513.2 Q15818 NPTX1_HUMAN neuronal pentraxin I 171 central nervous system development|synaptic transmission|transport transport vesicle metal ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1) 11 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) TCCAGCTCATCGATCTTGCTC 0.637000 17 48 0 0 0.012319 0 0 HELZ2 85441 broad.mit.edu 37 20 62203596 62203596 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:62203596G>C ENST00000467148.1 - 1 212 c.143C>G c.(142-144)aCc>aGc p.T48S HELZ2_ENST00000479540.1_5'UTR NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator AGAGTGGCAGGTGACCAAGCA 0.706000 9 7 0 0 0.004482 0 0 PDZD8 118987 broad.mit.edu 37 10 119044202 119044202 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:119044202G>A ENST00000334464.5 - 5 2281 c.2042C>T c.(2041-2043)tCa>tTa p.S681L PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 681 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) AATTTCTGATGATTCCCATGT 0.413000 12 100 0 0 0.013537 0 0 CEP350 9857 broad.mit.edu 37 1 180080147 180080147 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:180080147G>C ENST00000367607.3 + 38 9623 c.9205G>C c.(9205-9207)Gag>Cag p.E3069Q CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 3069 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 GGAGCTCCATGAGGAGGAGGC 0.413000 14 71 0 0 0.006122 0 0 USP54 159195 broad.mit.edu 37 10 75335391 75335391 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:75335391G>A ENST00000339859.4 - 2 126 c.26C>T c.(25-27)tCa>tTa p.S9L USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.S9L|USP54_ENST00000408019.1_Missense_Mutation_p.S9L|USP54_ENST00000428547.1_Missense_Mutation_p.S9L Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 9 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ACGACCCCCTGAAAAATAATT 0.448000 18 105 0 0 0.010504 0 0 CHPF 79586 broad.mit.edu 37 2 220405145 220405145 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:220405145G>C ENST00000243776.6 - 4 1536 c.1288C>G c.(1288-1290)Cta>Gta p.L430V CHPF_ENST00000535926.1_Missense_Mutation_p.L268V NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 430 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGCTCCTCTAGAGCTGTCCCC 0.647000 20 18 0 0 0.012319 0 0 NKD1 85407 broad.mit.edu 37 16 50666202 50666202 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:50666202G>A ENST00000268459.3 + 9 930 c.706G>A c.(706-708)Gac>Aac p.D236N NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 236 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) GTTCCAGGGTGACAGCCGCCT 0.557000 16 38 0 0 0.010504 0 0 MS4A7 58475 broad.mit.edu 37 11 60156975 60156975 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:60156975C>G ENST00000358246.1 + 4 510 c.317C>G c.(316-318)tCa>tGa p.S106* MS4A7_ENST00000530234.2_Intron|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000300184.3_Nonsense_Mutation_p.S151*|MS4A7_ENST00000534016.1_Nonsense_Mutation_p.S106* NM_206938.1|NM_206940.1 NP_996821.1|NP_996823.1 Q9GZW8 MS4A7_HUMAN membrane-spanning 4-domains, subfamily A, member 7 151 integral to membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1) 20 CATTGTGGCTCAGAAATGGAT 0.443000 18 76 0 0 0.007413 0 0 SLIT3 6586 broad.mit.edu 37 5 168127613 168127613 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:168127613C>G ENST00000519560.1 - 27 3335 c.2916G>C c.(2914-2916)ctG>ctC p.L972L SLIT3_ENST00000404867.3_Silent_p.L972L|SLIT3_ENST00000332966.8_Silent_p.L979L NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 972 EGF-like 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCTGTCACTCAGGTGGCAGG 0.537000 27 71 0 0 0.012213 0 0 CYP1A2 1544 broad.mit.edu 37 15 75044189 75044189 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:75044189G>C ENST00000343932.4 + 4 1099 c.1036G>C c.(1036-1038)Gag>Cag p.E346Q NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 346 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) GATCCAGAAGGAGCTGGGTAC 0.522000 16 70 0 0 0.006122 0 0 FAN1 22909 broad.mit.edu 37 15 31220836 31220836 + Missense_Mutation SNP G G A rs139319999 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:31220836G>A ENST00000362065.4 + 11 2860 c.2569G>A c.(2569-2571)Gat>Aat p.D857N FAN1_ENST00000568145.1_3'UTR NM_014967.4 NP_055782.3 Q9Y2M0 FAN1_HUMAN FANCD2/FANCI-associated nuclease 1 857 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1) 29 TGGGATTCCGGATGTCTTCAG 0.577000 Direct reversal of damage 22 135 0 0 0.002780 0 0 UBXN8 7993 broad.mit.edu 37 8 30608921 30608921 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:30608921G>A ENST00000519246.1 + 0 296 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 AGGAATCAAGGATTTTCTTTT 0.353000 3 18 0 0 0.004672 0 0 MAP2K1 5604 broad.mit.edu 37 15 66781559 66781559 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:66781559C>G ENST00000307102.5 + 9 1498 c.967C>G c.(967-969)Cca>Gca p.P323A MAP2K1_ENST00000566326.1_Missense_Mutation_p.P147A NM_002755.3 NP_002746.1 Q02750 MP2K1_HUMAN mitogen-activated protein kinase kinase 1 323 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|plasma membrane ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1) 20 GCAGCCTCCTCCAAAACTGCC 0.483000 18 60 0 0 0.010504 0 0 EFEMP2 30008 broad.mit.edu 37 11 65635368 65635368 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:65635368G>T ENST00000307998.6 - 10 1364 c.1134C>A c.(1132-1134)atC>atA p.I378I EFEMP2_ENST00000528176.1_Silent_p.I378I NM_016938.4 NP_058634.4 O95967 FBLN4_HUMAN EGF containing fibulin-like extracellular matrix protein 2 378 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 READ - Rectum adenocarcinoma(159;0.169) TTCCAGCACGGATCTGAAAGG 0.547000 33 116 2.68265e-12 2.84536e-12 0.013726 1 0 MAPK8 5599 broad.mit.edu 37 10 49618178 49618178 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:49618178C>G ENST00000374189.1 + 5 598 c.417C>G c.(415-417)atC>atG p.I139M MAPK8_ENST00000395611.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374182.3_Missense_Mutation_p.I139M|MAPK8_ENST00000360332.3_Missense_Mutation_p.I139M|MAPK8_ENST00000374174.1_Missense_Mutation_p.I139M P45983 MK08_HUMAN mitogen-activated protein kinase 8 139 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TGTGTGGAATCAAGCACCTTC 0.383000 3 145 0 0 0.004672 0 0 GPR137 56834 broad.mit.edu 37 11 64054131 64054131 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64054131C>G ENST00000539851.1 + 2 602 c.135C>G c.(133-135)ctC>ctG p.L45L GPR137_ENST00000438980.2_Silent_p.L45L|GPR137_ENST00000411458.1_Silent_p.L103L|GPR137_ENST00000313074.3_Silent_p.L45L|GPR137_ENST00000377702.4_Silent_p.L45L NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 45 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 ATGCCCAGCTCTGGCTGGTGC 0.627000 44 138 0 0 0.014410 0 0 MXRA8 54587 broad.mit.edu 37 1 1290234 1290234 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:1290234G>C ENST00000309212.6 - 5 807 c.777C>G c.(775-777)atC>atG p.I259M MXRA8_ENST00000342753.4_Missense_Mutation_p.I158M|MXRA8_ENST00000445648.2_Missense_Mutation_p.I259M NM_032348.2 NP_115724.1 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 259 Ig-like V-type 2. integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCAGCGGCTCGATACGCAGTG 0.687000 9 30 0 0 0.008291 0 0 BTBD10 84280 broad.mit.edu 37 11 13427228 13427228 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:13427228C>T ENST00000278174.5 - 7 1229 c.984G>A c.(982-984)caG>caA p.Q328Q BTBD10_ENST00000530907.1_Silent_p.Q336Q|BTBD10_ENST00000528120.1_Silent_p.Q280Q NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 328 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) CTTCTCCCATCTGTGGTGGAT 0.423000 50 147 0 0 0.014410 0 0 KDM3B 51780 broad.mit.edu 37 5 137754821 137754821 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:137754821G>A ENST00000314358.5 + 14 3815 c.3615G>A c.(3613-3615)ctG>ctA p.L1205L KDM3B_ENST00000394866.1_Silent_p.L861L|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Silent_p.L237L NM_016604.3 NP_057688.2 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1205 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 ATAGTGAACTGAAAGCCATCA 0.522000 20 50 0 0 0.012319 0 0 MUTYH 4595 broad.mit.edu 37 1 45796983 45796983 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:45796983G>C ENST00000450313.1 - 14 1562 c.1347C>G c.(1345-1347)atC>atG p.I449M MUTYH_ENST00000448481.1_Missense_Mutation_p.I432M|MUTYH_ENST00000355498.2_Missense_Mutation_p.I421M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Missense_Mutation_p.I116M|MUTYH_ENST00000372098.3_Missense_Mutation_p.I446M|MUTYH_ENST00000372110.3_Missense_Mutation_p.I436M|MUTYH_ENST00000354383.6_Missense_Mutation_p.I422M|MUTYH_ENST00000372115.3_Missense_Mutation_p.I435M|MUTYH_ENST00000488731.2_Missense_Mutation_p.I116M|MUTYH_ENST00000372104.1_Missense_Mutation_p.I421M|MUTYH_ENST00000372100.5_Missense_Mutation_p.I432M|MUTYH_ENST00000528332.2_Missense_Mutation_p.I130M|MUTYH_ENST00000456914.2_Missense_Mutation_p.I421M NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 446 Nudix hydrolase. depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) ATGTCAGCTTGATGTGAGAGA 0.537000 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 11 58 0 0 0.008291 0 0 VPS13B 157680 broad.mit.edu 37 8 100844830 100844830 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:100844830G>C ENST00000358544.2 + 52 9750 c.9639G>C c.(9637-9639)caG>caC p.Q3213H VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q3188H NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3213 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) TTCCCAGACAGAGTGTGGCAG 0.473000 23 104 0 0 0.002780 0 0 FAM104A 84923 broad.mit.edu 37 17 71228289 71228289 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:71228289G>A ENST00000405159.3 - 1 221 c.157C>T c.(157-159)Ctt>Ttt p.L53F FAM104A_ENST00000403627.3_Missense_Mutation_p.L53F|FAM104A_ENST00000583024.1_Missense_Mutation_p.L53F|FAM104A_ENST00000583178.1_Intron|FAM104A_ENST00000581110.1_Missense_Mutation_p.L53F NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 53 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) GCTCCGCGAAGAGAGGGAACA 0.701000 4 32 0 0 0.001168 0 0 ZNF425 155054 broad.mit.edu 37 7 148801943 148801943 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:148801943G>A ENST00000378061.2 - 4 1152 c.1020C>T c.(1018-1020)cgC>cgT p.R340R NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 340 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCCTCTTCAGGCGGAAGCACC 0.662000 9 38 0 0 0.004482 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043679 71043679 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:71043679C>A ENST00000272367.2 - 4 910 c.834G>T c.(832-834)ttG>ttT p.L278F CLEC4F_ENST00000426626.1_Missense_Mutation_p.L278F NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 278 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 TGGCTCCTTCCAAACTATTTC 0.408000 32 114 3.99451e-17 4.27472e-17 0.009535 1 0 BTD 686 broad.mit.edu 37 3 15686312 15686312 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:15686312C>T ENST00000383778.4 + 4 1247 c.889C>T c.(889-891)Ctg>Ttg p.L297L BTD_ENST00000449107.1_Silent_p.L319L|BTD_ENST00000303498.5_Silent_p.L317L|BTD_ENST00000437172.1_Silent_p.L319L P43251 BTD_HUMAN biotinidase 317 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 ACACACCCCTCTGGAGTCCTT 0.488000 27 89 0 0 0.007291 0 0 TMEM260 54916 broad.mit.edu 37 14 57082694 57082694 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:57082694C>A ENST00000261556.6 + 8 1012 c.890C>A c.(889-891)tCa>tAa p.S297* TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Nonsense_Mutation_p.S297*|TMEM260_ENST00000553335.1_3'UTR NM_017799.3 NP_060269.3 transmembrane protein 260 ACCGAACTCTCATTCAACATC 0.313000 38 123 6.68952e-21 7.20178e-21 0.013114 1 0 ATAD3B 83858 broad.mit.edu 37 1 1417591 1417591 + Silent SNP C C T rs143801965 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:1417591C>T ENST00000308647.7 + 6 704 c.588C>T c.(586-588)cgC>cgT p.R196R ATAD3B_ENST00000378741.3_Silent_p.R28R|ATAD3B_ENST00000378736.2_3'UTR NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 196 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCCGGGCGCGCGCCAAGGCCG 0.662000 22 21 0 0 0.014323 0 0 ANKRD36 375248 broad.mit.edu 37 2 97869931 97869931 + Missense_Mutation SNP A A T rs76309140 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:97869931A>T ENST00000420699.2 + 50 3236 c.2992A>T c.(2992-2994)Aca>Tca p.T998S ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 998 p.T998S(13) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CATTCAGGCTACAAGTGATGA 0.289000 4 37 0 0 0.000602 0 0 GPR110 266977 broad.mit.edu 37 6 46977116 46977116 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977116C>T ENST00000371253.2 - 11 2270 c.2055G>A c.(2053-2055)cgG>cgA p.R685R GPR110_ENST00000283297.5_Silent_p.R488R|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 685 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CGAGGATGATCCGGTAAGCCA 0.483000 15 47 0 0 0.003163 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41613200 41613200 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:41613200C>T ENST00000216237.5 + 5 752 c.594C>T c.(592-594)ttC>ttT p.F198F RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 198 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCAGCTGTTTCAAGCACGTGA 0.627000 20 51 0 0 0.008871 0 0 YTHDF1 54915 broad.mit.edu 37 20 61846954 61846954 + Splice_Site SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:61846954C>G ENST00000370339.3 - 2 369 c.e2-1 YTHDF1_ENST00000370334.4_Splice_Site NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 CTTTTGTTCTCTGCACCGCCG 0.622000 17 29 0 0 0.014323 0 0 C4orf21 55345 broad.mit.edu 37 4 113468485 113468485 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:113468485C>T ENST00000505019.1 - 24 5679 c.5554G>A c.(5554-5556)Gaa>Aaa p.E1852K NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 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) AATCCATTTTCATGAGCTGCA 0.363000 10 57 0 0 0.008291 0 0 DLGAP3 58512 broad.mit.edu 37 1 35334493 35334493 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:35334493G>A ENST00000373347.1 - 9 2466 c.2198C>T c.(2197-2199)aCg>aTg p.T733M DLGAP3_ENST00000235180.4_Missense_Mutation_p.T733M O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 733 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CTGGCCCTGCGTGTGGACCGT 0.741000 12 12 0 0 0.002450 0 0 HMGN1 3150 broad.mit.edu 37 21 40714934 40714934 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:40714934G>C ENST00000361263.4 - 3 979 c.298C>G c.(298-300)Cta>Gta p.L100V HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380749.5_3'UTR|HMGN1_ENST00000380747.1_3'UTR|HMGN1_ENST00000380748.1_3'UTR P05114 HMGN1_HUMAN high mobility group nucleosome binding domain 1 0 positive regulation of transcription elongation, DNA-dependent chromatin|cytoplasm|nucleus DNA binding breast(2)|lung(1) 3 Prostate(19;8.69e-07) AATGTTTCTAGAGCTACTAAA 0.333000 4 4 0 0 0.000602 0 0 COL7A1 1294 broad.mit.edu 37 3 48626388 48626388 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:48626388G>A ENST00000328333.8 - 18 2462 c.2355C>T c.(2353-2355)ctC>ctT p.L785L COL7A1_ENST00000454817.1_Silent_p.L785L NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 785 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGGAAGCATTGAGGATCTGCA 0.607000 30 92 0 0 0.012213 0 0 TENM1 10178 broad.mit.edu 37 X 123514646 123514646 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:123514646C>G ENST00000422452.2 - 32 8002 c.7939G>C c.(7939-7941)Gaa>Caa p.E2647Q TENM1_ENST00000371130.3_Missense_Mutation_p.E2640Q|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTTCCTCTTCGACAGTTGTC 0.532000 3 83 0 0 0.004672 0 0 LCMT2 9836 broad.mit.edu 37 15 43621022 43621022 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:43621022C>G ENST00000305641.5 - 1 1781 c.1666G>C c.(1666-1668)Gag>Cag p.E556Q LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Missense_Mutation_p.E135Q NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 556 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AATGGCTCCTCAGAAGCCCCG 0.557000 9 121 0 0 0.006214 0 0 SBNO1 55206 broad.mit.edu 37 12 123782660 123782660 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:123782660G>A ENST00000420886.2 - 30 3903 c.3904C>T c.(3904-3906)Cgt>Tgt p.R1302C SBNO1_ENST00000602398.1_Missense_Mutation_p.R1302C|SBNO1_ENST00000267176.4_Missense_Mutation_p.R1301C|SBNO1_ENST00000602750.1_Missense_Mutation_p.R1301C NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1302 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TAATATGTACGGCAACGAAGA 0.413000 35 78 0 0 0.004289 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73339833 73339833 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:73339833C>T ENST00000258098.6 - 1 313 c.73G>A c.(73-75)Gtg>Atg p.V25M NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 25 C2. protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GCCCGCAGCACCGTCACCTGG 0.751000 3 3 0 0 0.004672 0 0 TMEM202 338949 broad.mit.edu 37 15 72691140 72691140 + Silent SNP A A G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:72691140A>G ENST00000341689.3 + 2 282 c.228A>G c.(226-228)ccA>ccG p.P76P TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 76 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 CCATGTCCCCACTGAACTGGG 0.527000 26 56 0 0 0.005443 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812732 31812732 + Missense_Mutation SNP C C G rs138157793 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:31812732C>G ENST00000334067.3 + 1 136 c.87C>G c.(85-87)ttC>ttG p.F29L NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 29 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 ATAATTTGTTCTACCCCAGCA 0.478000 3 111 0 0 0.000602 0 0 SEC31A 22872 broad.mit.edu 37 4 83791497 83791497 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:83791497G>C ENST00000432794.1 - 8 1026 c.863C>G c.(862-864)tCc>tGc p.S288C SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000264405.5_Missense_Mutation_p.S60C|SEC31A_ENST00000500777.2_Missense_Mutation_p.S288C|SEC31A_ENST00000355196.2_Missense_Mutation_p.S288C|SEC31A_ENST00000448323.1_Missense_Mutation_p.S288C|SEC31A_ENST00000311785.7_Missense_Mutation_p.S288C|SEC31A_ENST00000509142.1_Missense_Mutation_p.S288C|SEC31A_ENST00000505472.1_Missense_Mutation_p.S288C|SEC31A_ENST00000505984.1_Missense_Mutation_p.S288C|SEC31A_ENST00000348405.4_Missense_Mutation_p.S288C|SEC31A_ENST00000395310.2_Missense_Mutation_p.S288C|SEC31A_ENST00000326950.5_Missense_Mutation_p.S288C|SEC31A_ENST00000513858.1_Missense_Mutation_p.S288C|SEC31A_ENST00000508502.1_Missense_Mutation_p.S288C|SEC31A_ENST00000508479.1_Missense_Mutation_p.S288C|SEC31A_ENST00000443462.2_Missense_Mutation_p.S283C O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 288 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) GTTTGGATTGGAGCAGAGAAT 0.408000 38 134 0 0 0.008740 0 0 OTUD5 55593 broad.mit.edu 37 X 48783269 48783269 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:48783269C>G ENST00000156084.4 - 6 1192 c.1132G>C c.(1132-1134)Gaa>Caa p.E378Q OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000428668.2_Missense_Mutation_p.E156Q|OTUD5_ENST00000396743.3_Missense_Mutation_p.E373Q|OTUD5_ENST00000376488.3_Missense_Mutation_p.E373Q NM_017602.3 NP_060072.1 Q96G74 OTUD5_HUMAN OTU domain containing 5 378 negative regulation of type I interferon production cysteine-type peptidase activity endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 ATCTGCTGTTCAATCCATGAC 0.507000 8 45 0 0 0.008291 0 0 TNC 3371 broad.mit.edu 37 9 117848518 117848518 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:117848518C>T ENST00000350763.4 - 3 1903 c.1492G>A c.(1492-1494)Gat>Aat p.D498N TNC_ENST00000542877.1_Missense_Mutation_p.D498N|TNC_ENST00000346706.3_Missense_Mutation_p.D498N|TNC_ENST00000423613.2_Missense_Mutation_p.D498N|TNC_ENST00000341037.4_Missense_Mutation_p.D498N|TNC_ENST00000345230.3_Missense_Mutation_p.D498N|TNC_ENST00000340094.3_Missense_Mutation_p.D498N|TNC_ENST00000537320.1_Missense_Mutation_p.D498N|TNC_ENST00000535648.1_Missense_Mutation_p.D498N NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 498 EGF-like 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CATTGGCGATCCCGGCAGTCT 0.602000 43 140 0 0 0.013114 0 0 RAP2A 5911 broad.mit.edu 37 13 98086811 98086811 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:98086811C>T ENST00000245304.4 + 1 336 c.87C>T c.(85-87)atC>atT p.I29I NM_021033.6 NP_066361.1 P10114 RAP2A_HUMAN RAP2A, member of RAS oncogene family 29 actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) GCACCTTCATCGAGAAATACG 0.642000 18 90 0 0 0.006122 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830913 4830913 + Missense_Mutation SNP T T A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:4830913T>A ENST00000348624.4 + 17 2415 c.2321T>A c.(2320-2322)gTg>gAg p.V774E AP5Z1_ENST00000490487.1_3'UTR NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 774 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding AGCACGGAGGTGTGCAGCCCC 0.697000 8 21 0 0 0.013537 0 0 SAFB 6294 broad.mit.edu 37 19 5664440 5664440 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:5664440G>A ENST00000292123.5 + 17 2431 c.2324G>A c.(2323-2325)cGa>cAa p.R775Q SAFB_ENST00000538656.1_Missense_Mutation_p.R617Q|SAFB_ENST00000433404.1_Missense_Mutation_p.R605Q|SAFB_ENST00000454510.1_Missense_Mutation_p.R706Q|SAFB_ENST00000592224.1_Missense_Mutation_p.R774Q|SAFB_ENST00000588852.1_Missense_Mutation_p.R775Q NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 775 Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) ATGGGAGAACGAGAAGGACAG 0.458000 5 36 0 0 0.001168 0 0 GUCY2F 2986 broad.mit.edu 37 X 108625366 108625366 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:108625366C>G ENST00000218006.2 - 17 3422 c.3131G>C c.(3130-3132)cGa>cCa p.R1044P NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1044 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TGTTCTTCCTCGAAGCTCCAC 0.423000 3 166 0 0 0.009096 0 0 TNN 63923 broad.mit.edu 37 1 175048789 175048789 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:175048789G>C ENST00000239462.4 + 3 843 c.730G>C c.(730-732)Gac>Cac p.D244H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 244 EGF-like 3. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CGGCTTCTGTGACACGGGCGA 0.662000 3 15 0 0 0.009096 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899402 112899402 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:112899402C>G ENST00000374530.3 + 8 1758 c.1578C>G c.(1576-1578)ctC>ctG p.L526L AKAP2_ENST00000555236.1_Silent_p.L526L|AKAP2_ENST00000374525.1_Silent_p.L384L|AKAP2_ENST00000434623.2_Silent_p.L384L|AKAP2_ENST00000510514.5_Silent_p.L526L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L526L|AKAP2_ENST00000259318.7_Silent_p.L295L NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 295 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 CATCGCAGCTCTGCACAGCCC 0.527000 10 22 0 0 0.010729 0 0 HECA 51696 broad.mit.edu 37 6 139487747 139487747 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:139487747G>A ENST00000367658.2 + 2 883 c.598G>A c.(598-600)Gag>Aag p.E200K RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 200 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GATGCAGGACGAGAAAAAGAA 0.582000 37 45 0 0 0.006230 0 0 PIGZ 80235 broad.mit.edu 37 3 196674441 196674441 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:196674441C>G ENST00000412723.1 - 3 1473 c.1327G>C c.(1327-1329)Gag>Cag p.E443Q NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 443 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) ACCACCTGCTCCAGGTACTCC 0.647000 4 46 0 0 0.009096 0 0 FAT4 79633 broad.mit.edu 37 4 126241934 126241934 + Silent SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:126241934C>A ENST00000394329.3 + 1 4381 c.4368C>A c.(4366-4368)tcC>tcA p.S1456S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1456 Cadherin 14. 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 GTCAACTATCCTACACAATCA 0.388000 27 101 4.22769e-11 4.45773e-11 0.006320 1 0 EHD2 30846 broad.mit.edu 37 19 48229328 48229328 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:48229328C>T ENST00000263277.3 + 4 1013 c.762C>T c.(760-762)atC>atT p.I254I EHD2_ENST00000538399.1_Silent_p.I118I|CTD-2571L23.8_ENST00000599924.1_lincRNA NM_014601.3 NP_055416.2 Q9NZN4 EHD2_HUMAN EH-domain containing 2 254 blood coagulation|endocytic recycling nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 19 all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537) GCGTCTACATCGGCTCCTTCT 0.697000 6 6 0 0 0.001984 0 0 PHF21A 51317 broad.mit.edu 37 11 45975109 45975109 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:45975109G>T ENST00000257821.4 - 10 1687 c.1064C>A c.(1063-1065)gCa>gAa p.A355E PHF21A_ENST00000418153.2_Missense_Mutation_p.A354E|PHF21A_ENST00000323180.6_Missense_Mutation_p.A355E|PHF21A_ENST00000527753.1_5'UTR NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 354 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TGGTTTGGGTGCAGCAGGTGG 0.448000 6 51 1.12685e-05 1.16588e-05 0.004482 1 0 WDR70 55100 broad.mit.edu 37 5 37479940 37479940 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:37479940C>T ENST00000265107.4 + 8 847 c.691C>T c.(691-693)Cag>Tag p.Q231* WDR70_ENST00000504564.1_Nonsense_Mutation_p.Q231*|WDR70_ENST00000510699.1_3'UTR NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 231 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTACAGCCATCAGATCAAGTC 0.338000 30 107 0 0 0.003271 0 0 EBF2 64641 broad.mit.edu 37 8 25708194 25708194 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:25708194G>C ENST00000520164.1 - 15 2149 c.1612C>G c.(1612-1614)Cag>Gag p.Q538E EBF2_ENST00000408929.3_Missense_Mutation_p.Q390E|EBF2_ENST00000535548.1_3'UTR NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 538 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) GCACTCTTCTGTTTGACAGCA 0.522000 41 70 0 0 0.005524 0 0 ATP5G2 517 broad.mit.edu 37 12 54069937 54069937 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:54069937C>T ENST00000394349.3 - 1 172 c.40G>A c.(40-42)Gtg>Atg p.V14M ATP5G2_ENST00000338662.5_Intron|ATP5G2_ENST00000549164.1_Intron NM_005176.5 NP_005167.2 Q06055 AT5G2_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) 0 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 CGCTCAGCCACGGATAGAGTG 0.637000 OREG0021876 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 87 0 0 0.008291 0 0 AADACL4 343066 broad.mit.edu 37 1 12726206 12726206 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:12726206C>G ENST00000376221.1 + 4 684 c.684C>G c.(682-684)ttC>ttG p.F228L NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 228 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TCCAGGCATTCTGTTTGCAGT 0.527000 102 177 0 0 0.014410 0 0 GABRR3 200959 broad.mit.edu 37 3 97711819 97711819 + RNA SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:97711819G>C ENST00000472788.1 - 0 982 NM_001105580.2 NP_001099050.1 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 3 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity large_intestine(2)|lung(1) 3 CCACAGCCTTGAGGTAGGACA 0.532000 16 132 0 0 0.004007 0 0 ALS2 57679 broad.mit.edu 37 2 202625889 202625889 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:202625889G>A ENST00000264276.6 - 4 1200 c.828C>T c.(826-828)ctC>ctT p.L276L ALS2_ENST00000467448.1_Silent_p.L276L NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 276 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TGGAGGGGCTGAGAGCAGTGC 0.453000 22 46 0 0 0.010504 0 0 AGRP 181 broad.mit.edu 37 16 67516684 67516684 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:67516684C>T ENST00000290953.2 - 4 553 c.254G>A c.(253-255)cGt>cAt p.R85H RP11-297D21.4_ENST00000602596.1_RNA NM_001138.1 NP_001129.1 O00253 AGRP_HUMAN agouti related protein homolog (mouse) 85 hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior extracellular space|Golgi lumen neuropeptide hormone activity endometrium(1) 1 Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16) TACGCAGCGACGTGAGGAGCG 0.602000 19 72 0 0 0.008871 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236754 140236754 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140236754C>G ENST00000307360.5 + 1 1121 c.1121C>G c.(1120-1122)tCt>tGt p.S374C PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S374C|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCAGCGTTTCTGACCATGAT 0.488000 33 133 0 0 0.003755 0 0 FREM2 341640 broad.mit.edu 37 13 39450265 39450265 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:39450265G>C ENST00000280481.7 + 19 8604 c.8388G>C c.(8386-8388)tgG>tgC p.W2796C NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2796 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TACAGCAGTGGAGCTTTGTCT 0.418000 27 150 0 0 0.013726 0 0 USP29 57663 broad.mit.edu 37 19 57642360 57642360 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:57642360G>A ENST00000254181.4 + 4 2771 c.2317G>A c.(2317-2319)Gaa>Aaa p.E773K USP29_ENST00000598197.1_Missense_Mutation_p.E773K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 773 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCAGTCTACAGAATTAAGACT 0.463000 17 24 0 0 0.007413 0 0 MYO3A 53904 broad.mit.edu 37 10 26286125 26286125 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:26286125G>C ENST00000265944.5 + 6 612 c.446G>C c.(445-447)aGa>aCa p.R149T MYO3A_ENST00000376301.1_Missense_Mutation_p.R149T|MYO3A_ENST00000543632.1_Missense_Mutation_p.R149T|MYO3A_ENST00000376302.1_Missense_Mutation_p.R149T NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 149 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ACTATCCACAGAGATGTGAAA 0.308000 20 61 0 0 0.010504 0 0 BIRC3 330 broad.mit.edu 37 11 102195714 102195714 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:102195714G>A ENST00000263464.3 + 2 3224 c.474G>A c.(472-474)atG>atA p.M158I BIRC3_ENST00000532808.1_Missense_Mutation_p.M158I NM_001165.4 NP_001156.1 Q13489 BIRC3_HUMAN baculoviral IAP repeat containing 3 158 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1) 21 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0146) CTGCCTTGATGAGAAGTTCCT 0.408000 T MALT1 MALT 60 147 0 0 0.014410 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236766 140236766 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140236766C>T ENST00000307360.5 + 1 1133 c.1133C>T c.(1132-1134)tCa>tTa p.S378L PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.S378L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCATGATTCAGGAGCCAAC 0.512000 32 136 0 0 0.012213 0 0 H1F0 3005 broad.mit.edu 37 22 38202088 38202088 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38202088G>A ENST00000340857.2 + 1 975 c.537G>A c.(535-537)gtG>gtA p.V179V NM_005318.3 NP_005309.1 P07305 H10_HUMAN H1 histone family, member 0 179 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1) 7 Melanoma(58;0.045) CCAAACCAGTGAAACCCAAAG 0.502000 19 44 0 0 0.012319 0 0 NLRP5 126206 broad.mit.edu 37 19 56539850 56539850 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:56539850G>A ENST00000390649.3 + 7 2251 c.2251G>A c.(2251-2253)Gag>Aag p.E751K NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 751 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGAGTCCGCTGAGGCATGTCC 0.522000 58 202 0 0 0.014410 0 0 ZFP2 80108 broad.mit.edu 37 5 178359095 178359095 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:178359095C>T ENST00000361362.2 + 5 1311 c.781C>T c.(781-783)Cag>Tag p.Q261* ZFP2_ENST00000503510.2_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000523286.1_Nonsense_Mutation_p.Q261*|ZFP2_ENST00000520301.1_Nonsense_Mutation_p.Q261* NM_030613.2 NP_085116.2 Q6ZN57 ZFP2_HUMAN ZFP2 zinc finger protein 261 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 20 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111) TATTGTACATCAGAGAAGCCA 0.398000 23 76 0 0 0.004656 0 0 GTF3C2 2976 broad.mit.edu 37 2 27566224 27566224 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:27566224C>G ENST00000359541.2 - 2 627 c.198G>C c.(196-198)caG>caC p.Q66H GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q66H Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 66 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGCCTCCTCTGATCAGGAG 0.488000 9 282 0 0 0.008291 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793078 140793078 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:140793078C>G ENST00000398610.2 + 1 336 c.336C>G c.(334-336)atC>atG p.I112M PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTAATATCCTTGTGGAAG 0.488000 42 99 0 0 0.008740 0 0 CDKL4 344387 broad.mit.edu 37 2 39406448 39406448 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:39406448C>T ENST00000378803.1 - 8 806 c.807G>A c.(805-807)atG>atA p.M269I CDKL4_ENST00000395035.3_Missense_Mutation_p.M269I NM_001009565.1 NP_001009565.1 Q5MAI5 CDKL4_HUMAN cyclin-dependent kinase-like 4 269 Protein kinase. cytoplasm ATP binding|cyclin-dependent protein kinase activity breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1) 12 all_hematologic(82;0.248) CATCTGGATTCATCTTCAGAC 0.423000 14 90 0 0 0.001855 0 0 UGT2A3 79799 broad.mit.edu 37 4 69816835 69816835 + Missense_Mutation SNP G G A rs138523993 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:69816835G>A ENST00000251566.4 - 1 674 c.644C>T c.(643-645)tCa>tTa p.S215L UGT2A3_ENST00000420231.2_5'UTR NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 215 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GAACAAAACTGAAAGCATTGA 0.358000 13 33 0 0 0.001855 0 0 POSTN 10631 broad.mit.edu 37 13 38154776 38154776 + Missense_Mutation SNP G G A rs145787730 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:38154776G>A ENST00000379747.4 - 11 1568 c.1451C>T c.(1450-1452)gCg>gTg p.A484V POSTN_ENST00000541179.1_Missense_Mutation_p.A484V|POSTN_ENST00000379742.4_Missense_Mutation_p.A484V|POSTN_ENST00000379743.4_Missense_Mutation_p.A484V|POSTN_ENST00000379749.4_Missense_Mutation_p.A484V|POSTN_ENST00000541481.1_Missense_Mutation_p.A484V NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 484 FAS1 3. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TATGTGAATCGCACCGTTTCT 0.443000 22 145 0 0 0.003330 0 0 VPS13B 157680 broad.mit.edu 37 8 100654378 100654378 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:100654378G>A ENST00000358544.2 + 34 5746 c.5635G>A c.(5635-5637)Gaa>Aaa p.E1879K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E1854K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1879 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) AAATCTCCCAGAAGTTGATTC 0.388000 20 189 0 0 0.010504 0 0 GALR2 8811 broad.mit.edu 37 17 74071153 74071153 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74071153C>T ENST00000329003.3 + 1 279 c.189C>T c.(187-189)ttC>ttT p.F63F NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 63 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 CCAACCTGTTCATCCTTAACC 0.652000 11 70 0 0 0.010729 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68150972 68150972 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:68150972C>T ENST00000262215.3 - 21 3525 c.3136G>A c.(3136-3138)Gag>Aag p.E1046K ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E500K NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1046 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GCTTATACCTCATGCCATGAA 0.323000 24 76 0 0 0.004656 0 0 ABCA10 10349 broad.mit.edu 37 17 67150091 67150091 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:67150091G>A ENST00000269081.4 - 33 4755 c.3846C>T c.(3844-3846)ttC>ttT p.F1282F ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1282 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) AGTACCCCAAGAACTTGAGGC 0.478000 27 124 0 0 0.006320 0 0 CTDP1 9150 broad.mit.edu 37 18 77474881 77474881 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:77474881C>G ENST00000299543.7 + 8 1568 c.1421C>G c.(1420-1422)tCt>tGt p.S474C CTDP1_ENST00000075430.7_Missense_Mutation_p.S474C NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 474 Ser-rich. positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TCCTCCGCCTCTGATGGCGAA 0.677000 2 4 0 0 0.004672 0 0 RNF32 140545 broad.mit.edu 37 7 156437207 156437207 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:156437207G>C ENST00000392741.2 + 2 118 c.30G>C c.(28-30)aaG>aaC p.K10N RNF32_ENST00000392740.1_Missense_Mutation_p.K10N|RNF32_ENST00000343665.4_Missense_Mutation_p.K10N|RNF32_ENST00000311822.8_Missense_Mutation_p.K10N|RNF32_ENST00000405335.1_Missense_Mutation_p.K10N|RNF32_ENST00000317955.5_Missense_Mutation_p.K10N|RNF32_ENST00000432459.2_Missense_Mutation_p.K10N|RNF32_ENST00000392743.2_Missense_Mutation_p.K10N Q9H0A6 RNF32_HUMAN ring finger protein 32 10 aggresome|endosome protein binding|zinc ion binding cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2) 15 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00291) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ACTCATCTAAGAAAGATAACT 0.333000 5 53 0 0 0.001168 0 0 GPR110 266977 broad.mit.edu 37 6 46977410 46977410 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977410C>A ENST00000371253.2 - 11 1976 c.1761G>T c.(1759-1761)tgG>tgT p.W587C GPR110_ENST00000283297.5_Missense_Mutation_p.W390C|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 587 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CATAGGTGATCCATTTTACAA 0.433000 18 91 5.26018e-13 5.59577e-13 0.012319 1 0 UBR4 23352 broad.mit.edu 37 1 19446699 19446699 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:19446699G>A ENST00000375267.2 - 69 10288 c.10285C>T c.(10285-10287)Cac>Tac p.H3429Y UBR4_ENST00000375254.3_Missense_Mutation_p.H3429Y|UBR4_ENST00000375226.2_Missense_Mutation_p.H3405Y|UBR4_ENST00000375217.2_Missense_Mutation_p.H3422Y Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3429 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) GTCAGACAGTGGGCCTGCCAG 0.512000 13 108 0 0 0.001855 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118892481 118892481 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:118892481G>C ENST00000533632.1 + 4 830 c.466G>C c.(466-468)Gtg>Ctg p.V156L TRAPPC4_ENST00000526141.1_3'UTR|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.V113L|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.V156L|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.V63L|TRAPPC4_ENST00000359005.4_Intron|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.V102L NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 156 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) GATCAAGTTTGTGGTTCTAGC 0.408000 13 60 0 0 0.003163 0 0 C17orf75 64149 broad.mit.edu 37 17 30662447 30662447 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:30662447C>G ENST00000577809.1 - 6 613 c.564G>C c.(562-564)gaG>gaC p.E188D RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.E188D NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 188 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) TTATGTGACTCTCCAGGCCCC 0.398000 27 150 0 0 0.007291 0 0 SRPK1 6732 broad.mit.edu 37 6 35888247 35888247 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:35888247C>T ENST00000373825.2 - 2 357 c.72G>A c.(70-72)agG>agA p.R24R SRPK1_ENST00000423325.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 24 cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 AGACTCACTTCCTTTGGGCTT 0.542000 59 102 0 0 0.014410 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499805 59499805 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:59499805G>C ENST00000307144.4 + 1 764 c.666G>C c.(664-666)ttG>ttC p.L222F MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 222 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding p.L222F(1) endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) TTCGTTTCTTGATTGGACAAA 0.438000 16 72 0 0 0.004007 0 0 OR10H4 126541 broad.mit.edu 37 19 16060070 16060070 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:16060070G>A ENST00000322107.1 + 1 253 c.253G>A c.(253-255)Gat>Aat p.D85N NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CATGCTGGCTGATCTGCTTTC 0.507000 6 349 0 0 0.001168 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424864 69424864 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:69424864C>G ENST00000333026.3 + 7 1022 c.922C>G c.(922-924)Cac>Gac p.H308D NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 308 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 AGACAAGTATCACGCACTCTA 0.468000 18 18 0 0 0.006122 0 0 XDH 7498 broad.mit.edu 37 2 31598258 31598258 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:31598258C>T ENST00000379416.3 - 15 1638 c.1590G>A c.(1588-1590)gaG>gaA p.E530E NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 530 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTTCCAGGTTCTCTTGGCCCA 0.552000 39 120 0 0 0.007835 0 0 ROCK1 6093 broad.mit.edu 37 18 18586476 18586476 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:18586476G>A ENST00000399799.1 - 16 2661 c.1721C>T c.(1720-1722)tCa>tTa p.S574L NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 574 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CTGACTAATTGACTTGCTCAT 0.383000 44 121 0 0 0.014410 0 0 THEMIS2 9473 broad.mit.edu 37 1 28211959 28211959 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:28211959C>G ENST00000373921.3 + 5 1877 c.1873C>G c.(1873-1875)Cta>Gta p.L625V THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L496V NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 AAGGCAGGATCTAGGTGAGTC 0.597000 11 29 0 0 0.010729 0 0 ATAD2B 54454 broad.mit.edu 37 2 23980730 23980730 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:23980730G>A ENST00000238789.5 - 25 3979 c.3636C>T c.(3634-3636)atC>atT p.I1212I ATAD2B_ENST00000474583.1_5'UTR NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1212 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAAGTCCATGATGTCACAGG 0.443000 31 101 0 0 0.009535 0 0 FLG 2312 broad.mit.edu 37 1 152282518 152282518 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:152282518G>A ENST00000368799.1 - 3 4879 c.4844C>T c.(4843-4845)tCc>tTc p.S1615F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1615 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTTTCTGGAAGCCGACTC 0.572000 Ichthyosis 57 147 0 0 0.014410 0 0 ZNF764 92595 broad.mit.edu 37 16 30569449 30569449 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:30569449C>G ENST00000395091.2 - 1 370 c.55G>C c.(55-57)Gag>Cag p.E19Q AC002310.13_ENST00000568114.1_Missense_Mutation_p.E19Q|ZNF764_ENST00000252797.2_Missense_Mutation_p.E19Q Q96H86 ZN764_HUMAN zinc finger protein 764 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 TCCCTCCACTCGGGTCCGGCC 0.726000 11 11 0 0 0.008291 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 49 0 0 0.001984 0 0 PSME1 5720 broad.mit.edu 37 14 24606752 24606752 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:24606752G>C ENST00000382708.3 + 5 333 c.270G>C c.(268-270)aaG>aaC p.K90N PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000206451.6_Missense_Mutation_p.K90N|PSME1_ENST00000561435.1_Missense_Mutation_p.K90N|PSME1_ENST00000470718.1_3'UTR NM_176783.1 NP_788955.1 Q06323 PSME1_HUMAN proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) 90 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(265;0.00831) ATGAAAAGAAGAAGGGGGAGG 0.483000 12 64 0 0 0.013537 0 0 GLCCI1 113263 broad.mit.edu 37 7 8062158 8062158 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:8062158C>A ENST00000223145.5 + 3 1212 c.655C>A c.(655-657)Cag>Aag p.Q219K GLCCI1_ENST00000474269.1_3'UTR NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 219 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GAGGTCACATCAGCGTTCTGC 0.368000 7 99 5.18039e-06 5.36754e-06 0.003080 1 0 JAKMIP3 282973 broad.mit.edu 37 10 133946815 133946815 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:133946815G>C ENST00000298622.4 + 3 771 c.e3-1 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) TCTCCTTGTAGATGGAGGAGA 0.537000 3 10 0 0 0.009096 0 0 PGBD2 267002 broad.mit.edu 37 1 249211312 249211312 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:249211312C>T ENST00000539153.1 + 4 775 c.520C>T c.(520-522)Cag>Tag p.Q174* PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Nonsense_Mutation_p.Q177* Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 177 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TCTTACGGCTCAGGAATTGAA 0.368000 20 120 0 0 0.008871 0 0 TF 7018 broad.mit.edu 37 3 133496034 133496034 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:133496034G>A ENST00000402696.3 + 16 2499 c.2014G>A c.(2014-2016)Gaa>Aaa p.E672K TF_ENST00000264998.3_Missense_Mutation_p.E545K NM_001063.3 NP_001054.1 P02787 TRFE_HUMAN transferrin 672 Transferrin-like 2. E -> Q (in Ref. 12; AA sequence). cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) ATACTTAGGAGAAGAATATGT 0.443000 13 40 0 0 0.001855 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617904 77617904 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:77617904G>A ENST00000521891.2 + 2 2029 c.1581G>A c.(1579-1581)gcG>gcA p.A527A ZFHX4_ENST00000518282.1_Silent_p.A527A|ZFHX4_ENST00000050961.6_Silent_p.A527A|ZFHX4_ENST00000455469.2_Silent_p.A527A|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 527 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTCCTCGGCGACTGTTTCTG 0.433000 HNSCC(33;0.089) 14 57 0 0 0.003163 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73303223 73303223 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:73303223C>T ENST00000258098.6 - 4 1896 c.1656G>A c.(1654-1656)ctG>ctA p.L552L RAB11FIP5_ENST00000493523.2_5'UTR NM_015470.2 NP_056285.1 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 552 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 GCCCACTGCTCAGGGCTATGC 0.622000 27 261 0 0 0.004656 0 0 ZNF91 7644 broad.mit.edu 37 19 23544945 23544945 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:23544945G>A ENST00000300619.7 - 4 1041 c.836C>T c.(835-837)tCa>tTa p.S279L ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S247L NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 279 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AGTTAGGGTTGAGGACCATAG 0.388000 11 83 0 0 0.013537 0 0 KLHL3 26249 broad.mit.edu 37 5 136964011 136964011 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:136964011G>A ENST00000508657.1 - 13 2184 c.1470C>T c.(1468-1470)gaC>gaT p.D490D KLHL3_ENST00000541417.1_3'UTR|KLHL3_ENST00000506491.1_Silent_p.D440D|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000309755.4_Silent_p.D522D NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 522 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) ACATGTTCATGTCTGCCACTT 0.547000 29 195 0 0 0.008361 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65727397 65727397 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:65727397G>A ENST00000532620.1 + 0 1888 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 CCTGGACCCGGAGTGCAGTCC 0.562000 5 21 0 0 0.000602 0 0 TPD52 7163 broad.mit.edu 37 8 80976724 80976724 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:80976724C>G ENST00000379096.5 - 2 238 c.124G>C c.(124-126)Gaa>Caa p.E42Q TPD52_ENST00000517427.1_Missense_Mutation_p.E82Q|TPD52_ENST00000448733.2_Missense_Mutation_p.E82Q|TPD52_ENST00000537855.1_Missense_Mutation_p.E82Q|TPD52_ENST00000379097.3_Missense_Mutation_p.E82Q|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000518937.1_Missense_Mutation_p.E42Q|TPD52_ENST00000520527.1_Missense_Mutation_p.E82Q NM_005079.2 NP_005070.1 P55327 TPD52_HUMAN tumor protein D52 82 anatomical structure morphogenesis|B cell differentiation|secretion endoplasmic reticulum|perinuclear region of cytoplasm calcium ion binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06) Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158) BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612) TTTGCAAGTTCTCTTCTTAGC 0.428000 43 105 0 0 0.011902 0 0 ADAM17 6868 broad.mit.edu 37 2 9630344 9630344 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:9630344G>A ENST00000310823.3 - 19 2619 c.2437C>T c.(2437-2439)Cgt>Tgt p.R813C IAH1_ENST00000545602.1_Intron NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 813 B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CGATTCTGACGCTGCAGTTTA 0.438000 5 67 0 0 0.001168 0 0 XIRP1 165904 broad.mit.edu 37 3 39226071 39226071 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:39226071C>G ENST00000340369.3 - 2 5094 c.4866G>C c.(4864-4866)caG>caC p.Q1622H XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.Q305H NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1622 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TGACTTGACTCTGGGCCTCAG 0.562000 54 161 0 0 0.014410 0 0 MAST4 375449 broad.mit.edu 37 5 66456300 66456300 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:66456300C>G ENST00000404260.3 + 27 3982 c.3674C>G c.(3673-3675)tCa>tGa p.S1225* MAST4_ENST00000403625.2_Nonsense_Mutation_p.S1222*|MAST4_ENST00000403666.1_Nonsense_Mutation_p.S1033*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.S1028*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.S1043* O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1225 PDZ. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AATAAGGTGTCAATCACTACT 0.423000 64 186 0 0 0.014410 0 0 HAT1 8520 broad.mit.edu 37 2 172822934 172822934 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:172822934G>C ENST00000264108.4 + 7 652 c.616G>C c.(616-618)Gag>Cag p.E206Q HAT1_ENST00000392584.1_Missense_Mutation_p.E121Q|SLC25A12_ENST00000472748.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 206 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) CTGCAGATTTGAGAAGTATAA 0.438000 3 40 0 0 0.004672 0 0 DGCR8 54487 broad.mit.edu 37 22 20079432 20079432 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:20079432C>G ENST00000351989.3 + 7 1974 c.1545C>G c.(1543-1545)atC>atG p.I515M DGCR8_ENST00000383024.2_Missense_Mutation_p.I515M|DGCR8_ENST00000407755.1_Missense_Mutation_p.I515M NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 515 DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) AGGTCTGCATCCTGCACGAGT 0.468000 10 34 0 0 0.010729 0 0 CYP11B2 1585 broad.mit.edu 37 8 143993975 143993975 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:143993975C>G ENST00000323110.2 - 8 1371 c.1369G>C c.(1369-1371)Gag>Cag p.E457Q NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 457 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCTCTGCCTCTGCCAGGCGC 0.692000 Familial Hyperaldosteronism type I 15 69 0 0 0.004990 0 0 RBM26 64062 broad.mit.edu 37 13 79911392 79911392 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:79911392G>A ENST00000438737.2 - 19 3018 c.2578C>T c.(2578-2580)Cat>Tat p.H860Y RBM26_ENST00000438724.1_Missense_Mutation_p.H836Y|RBM26_ENST00000267229.7_Missense_Mutation_p.H833Y Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 860 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CCTCTTGAATGAATTCCTCTG 0.547000 4 100 0 0 0.000602 0 0 KATNAL1 84056 broad.mit.edu 37 13 30804674 30804674 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:30804674G>A ENST00000380615.3 - 8 1110 c.943C>T c.(943-945)Cga>Tga p.R315* KATNAL1_ENST00000380617.3_Nonsense_Mutation_p.R315* NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 315 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) GTTCCTCTTCGACTGCAGATA 0.348000 6 40 0 0 0.001984 0 0 SLC1A5 6510 broad.mit.edu 37 19 47278850 47278850 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:47278850C>T ENST00000542575.2 - 8 2171 c.1543G>A c.(1543-1545)Gag>Aag p.E515K SLC1A5_ENST00000594991.1_Missense_Mutation_p.E339K|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.E313K|SLC1A5_ENST00000412532.2_Missense_Mutation_p.E287K NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 515 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) TTTCCTTCCTCAGTGGGGACT 0.582000 53 201 0 0 0.014410 0 0 ERC2 26059 broad.mit.edu 37 3 55717821 55717821 + Splice_Site SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:55717821C>G ENST00000288221.6 - 17 3169 c.e17+1 NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGGTTTCTCACCCCTCAAAAC 0.478000 4 63 0 0 0.009096 0 0 DDX20 11218 broad.mit.edu 37 1 112303904 112303904 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:112303904C>T ENST00000369702.4 + 7 1639 c.1019C>T c.(1018-1020)tCa>tTa p.S340L DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR NM_007204.4 NP_009135.4 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 340 Helicase C-terminal. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGTGCATTTCAGGTAAGTTC 0.338000 11 78 0 0 0.001855 0 0 PKD1L2 114780 broad.mit.edu 37 16 81145966 81145966 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:81145966G>A ENST00000533478.1 - 0 4840 PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGTCTCACTGAAGCTGATGC 0.532000 19 38 0 0 0.006122 0 0 DMC1 11144 broad.mit.edu 37 22 38945946 38945946 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38945946C>G ENST00000216024.2 - 8 754 c.478G>C c.(478-480)Gat>Cat p.D160H DMC1_ENST00000428462.2_Intron NM_007068.2 NP_008999.2 Q14565 DMC1_HUMAN DNA meiotic recombinase 1 160 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) TTTTCTGTATCAATGAAGATA 0.328000 Homologous recombination 8 40 0 0 0.004482 0 0 FAM160B2 64760 broad.mit.edu 37 8 21960135 21960135 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:21960135G>A ENST00000289921.7 + 16 2135 c.2089G>A c.(2089-2091)Gag>Aag p.E697K NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 697 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 GGCTCCTGGGGAGCAGTGAGT 0.622000 5 4 0 0 0.000602 0 0 FBN2 2201 broad.mit.edu 37 5 127654636 127654636 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:127654636G>C ENST00000508053.1 - 41 5503 c.4529C>G c.(4528-4530)cCt>cGt p.P1510R FBN2_ENST00000262464.4_Missense_Mutation_p.P1510R P35556 FBN2_HUMAN fibrillin 2 1510 EGF-like 25; calcium-binding. 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) AAACATTCCAGGCAGGTTATT 0.358000 5 113 0 0 0.000602 0 0 GABBR2 9568 broad.mit.edu 37 9 101304180 101304180 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:101304180G>A ENST00000259455.2 - 3 1064 c.605C>T c.(604-606)aCg>aTg p.T202M GABBR2_ENST00000477471.1_5'UTR NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 202 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AACGTCTTGCGTCAGCGTGCC 0.532000 9 48 0 0 0.008291 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118354333 118354333 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:118354333G>C ENST00000528052.1 + 5 493 c.422G>C c.(421-423)cGa>cCa p.R141P PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R141P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R141P P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 141 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AACAACGTGCGAGTGGTGGGC 0.592000 10 62 0 0 0.006214 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409589 56409589 + Missense_Mutation SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:56409589G>T ENST00000544374.1 - 1 358 c.330C>A c.(328-330)ttC>ttA p.F110L OR5AP2_ENST00000302981.1_Missense_Mutation_p.F109L Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 AGGAGCCAAAGAAGTAGAACT 0.512000 17 41 0.006122 0.0062086 0.006122 1 0 BPIFB3 359710 broad.mit.edu 37 20 31647253 31647253 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:31647253G>A ENST00000375494.3 + 3 351 c.351G>A c.(349-351)ctG>ctA p.L117L NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 117 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding GGGTGCAGCTGAGCCTGCACA 0.582000 13 24 0 0 0.007413 0 0 CUL2 8453 broad.mit.edu 37 10 35327992 35327992 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:35327992C>G ENST00000374748.1 - 10 1046 c.733G>C c.(733-735)Gat>Cat p.D245H CUL2_ENST00000602371.1_Missense_Mutation_p.D188H|CUL2_ENST00000374749.3_Missense_Mutation_p.D245H|CUL2_ENST00000374746.1_Missense_Mutation_p.D245H|CUL2_ENST00000537177.1_Missense_Mutation_p.D264H|CUL2_ENST00000374751.3_Missense_Mutation_p.D245H|CUL2_ENST00000374742.1_Missense_Mutation_p.D245H Q13617 CUL2_HUMAN cullin 2 245 cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 ATTTCTTCATCTTTTAATCTA 0.323000 10 41 0 0 0.010729 0 0 COPB1 1315 broad.mit.edu 37 11 14520460 14520460 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:14520460C>G ENST00000249923.3 - 2 315 c.15G>C c.(13-15)gaG>gaC p.E5D COPB1_ENST00000439561.2_Missense_Mutation_p.E5D|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 5 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 AGCATACGTTCTCAGCCGCCG 0.343000 12 40 0 0 0.010729 0 0 TP63 8626 broad.mit.edu 37 3 189586432 189586432 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:189586432G>A ENST00000264731.3 + 8 1145 c.1056G>A c.(1054-1056)agG>agA p.R352R TP63_ENST00000320472.5_Silent_p.R352R|TP63_ENST00000392461.3_Silent_p.R258R|TP63_ENST00000392460.3_Silent_p.R352R|TP63_ENST00000392463.2_Silent_p.R258R|TP63_ENST00000437221.1_Silent_p.R258R|TP63_ENST00000440651.2_Silent_p.R352R|TP63_ENST00000354600.5_Silent_p.R258R|TP63_ENST00000418709.2_Silent_p.R352R|TP63_ENST00000456148.1_Silent_p.R258R|TP63_ENST00000449992.1_Silent_p.R173R|TP63_ENST00000382063.4_Silent_p.R267R NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 352 Interaction with HIPK2. R -> G (in EDRH and OFC8). anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GAAGAGACAGGAAGGCGGATG 0.502000 HNSCC(45;0.13) 17 66 0 0 0.006122 0 0 ANO5 203859 broad.mit.edu 37 11 22281213 22281213 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:22281213C>T ENST00000324559.8 + 15 1873 c.1556C>T c.(1555-1557)tCa>tTa p.S519L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 519 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTCACAGGATCATGCTTGAAC 0.378000 20 61 0 0 0.012319 0 0 CCNB3 85417 broad.mit.edu 37 X 50094305 50094305 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:50094305G>A ENST00000376042.1 + 12 4324 c.4026G>A c.(4024-4026)ctG>ctA p.L1342L CCNB3_ENST00000376038.1_Silent_p.L238L|CCNB3_ENST00000276014.7_Silent_p.L1342L|CCNB3_ENST00000348603.2_Silent_p.L238L Q8WWL7 CCNB3_HUMAN cyclin B3 1342 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TCAGACAGCTGAACAAACTGC 0.458000 71 49 0 0 0.014410 0 0 NUDC 10726 broad.mit.edu 37 1 27272172 27272172 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:27272172G>A ENST00000321265.5 + 8 1062 c.939G>A c.(937-939)ctG>ctA p.L313L NUDC_ENST00000484772.1_3'UTR NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 313 cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) AGGAGATTCTGAAGAAGTGAG 0.547000 8 124 0 0 0.006214 0 0 TBC1D31 93594 broad.mit.edu 37 8 124140671 124140671 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:124140671C>A ENST00000287380.1 + 14 2125 c.2035C>A c.(2035-2037)Caa>Aaa p.Q679K TBC1D31_ENST00000522420.1_Missense_Mutation_p.Q574K|TBC1D31_ENST00000309336.3_Missense_Mutation_p.Q679K|TBC1D31_ENST00000521676.1_Missense_Mutation_p.Q556K|TBC1D31_ENST00000378080.2_Missense_Mutation_p.Q574K|TBC1D31_ENST00000327098.5_Missense_Mutation_p.Q679K|TBC1D31_ENST00000518805.1_Intron NM_145647.3 NP_663622.2 TBC1 domain family, member 31 AGTATTTAATCAATATCCAAA 0.358000 36 63 1.836e-18 1.97068e-18 0.003755 1 0 ALDH1L2 160428 broad.mit.edu 37 12 105446691 105446691 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:105446691C>T ENST00000258494.9 - 11 1446 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E436K NM_001034173.3 NP_001029345.2 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 436 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 ACCATGATTTCATTGACCTCC 0.363000 OREG0022073 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 55 0 0 0.004656 0 0 ATAD5 79915 broad.mit.edu 37 17 29220740 29220740 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:29220740G>A ENST00000321990.4 + 21 5247 c.4869G>A c.(4867-4869)aaG>aaA p.K1623K NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1623 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) CAGAGACAAAGAAATCTATTC 0.393000 61 101 0 0 0.014410 0 0 TCF3 6929 broad.mit.edu 37 19 1621849 1621849 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:1621849C>T ENST00000262965.5 - 11 1287 c.943G>A c.(943-945)Gac>Aac p.D315N TCF3_ENST00000453954.2_Missense_Mutation_p.D231N|TCF3_ENST00000395423.3_Missense_Mutation_p.D264N|TCF3_ENST00000344749.5_Missense_Mutation_p.D315N|TCF3_ENST00000588136.1_Missense_Mutation_p.D315N NM_003200.3 NP_003191.1 P15923 TFE2_HUMAN transcription factor 3 315 B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus|protein complex|transcription factor complex bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07) 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) AGGAGGCTGTCGGCCCCGCTG 0.711000 T """PBX1, HLF, TFPT""" pre B-ALL 3 14 0 0 0.004672 0 0 LAG3 3902 broad.mit.edu 37 12 6887472 6887472 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6887472G>C ENST00000203629.2 + 8 1827 c.1494G>C c.(1492-1494)aaG>aaC p.K498N NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 498 integral to membrane antigen binding|MHC class II protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CTCAGAGCAAGATAGAGGAGC 0.632000 11 28 0 0 0.010729 0 0 CUX1 1523 broad.mit.edu 37 7 101813790 101813790 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:101813790C>G ENST00000360264.3 + 10 841 c.821C>G c.(820-822)tCc>tGc p.S274C CUX1_ENST00000425244.2_Missense_Mutation_p.S228C|CUX1_ENST00000556210.1_Missense_Mutation_p.S263C|CUX1_ENST00000549414.2_Missense_Mutation_p.S263C|CUX1_ENST00000547394.2_Missense_Mutation_p.S258C|CUX1_ENST00000393824.3_Missense_Mutation_p.S237C|CUX1_ENST00000550008.2_Missense_Mutation_p.S263C|CUX1_ENST00000437600.4_Missense_Mutation_p.S274C|CUX1_ENST00000292535.7_Missense_Mutation_p.S263C|CUX1_ENST00000292538.4_Missense_Mutation_p.S274C|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.S263C NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 263 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GCCAATCACTCCCTCCAGCTG 0.602000 2 7 0 0 0.004672 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 75 0 0 0.006214 0 0 KIF24 347240 broad.mit.edu 37 9 34290296 34290296 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:34290296G>A ENST00000379166.2 - 5 1122 c.1003C>T c.(1003-1005)Cta>Tta p.L335L KIF24_ENST00000345050.2_Intron|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000402558.2_Silent_p.L335L NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 335 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TTGGCAGCTAGAGCATACAAT 0.458000 60 51 0 0 0.014410 0 0 KCTD8 386617 broad.mit.edu 37 4 44176989 44176989 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:44176989G>C ENST00000360029.3 - 2 1523 c.1240C>G c.(1240-1242)Cag>Gag p.Q414E NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 414 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 ATGAGGGTCTGAAAGAGTTCA 0.428000 HNSCC(17;0.042) 77 247 0 0 0.014410 0 0 GPR110 266977 broad.mit.edu 37 6 46977266 46977266 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977266C>G ENST00000371253.2 - 11 2120 c.1905G>C c.(1903-1905)ttG>ttC p.L635F GPR110_ENST00000283297.5_Missense_Mutation_p.L438F|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 635 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CATCAGCAATCAAGAGGGACA 0.468000 8 40 0 0 0.003080 0 0 OR5A1 219982 broad.mit.edu 37 11 59211187 59211187 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:59211187C>T ENST00000302030.2 + 1 571 c.546C>T c.(544-546)tgC>tgT p.C182C NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 ACTTCTTCTGCGACCTCCCAC 0.537000 73 251 0 0 0.014410 0 0 KPRP 448834 broad.mit.edu 37 1 152733229 152733229 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:152733229G>C ENST00000368773.1 + 2 1223 c.1165G>C c.(1165-1167)Gac>Cac p.D389H KPRP_ENST00000606109.1_Missense_Mutation_p.D389H NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 389 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACGGCGTCTTGACCAGTGTCC 0.647000 15 31 0 0 0.004007 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327212 150327212 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:150327212C>G ENST00000328902.5 - 2 235 c.19G>C c.(19-21)Gaa>Caa p.E7Q GIMAP6_ENST00000493969.1_Missense_Mutation_p.E7Q NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 7 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAATTTGTTCATATTCTTCT 0.428000 3 89 0 0 0.004672 0 0 PRRT3 285368 broad.mit.edu 37 3 9990498 9990498 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:9990498G>C ENST00000412055.1 - 3 1244 c.1115C>G c.(1114-1116)tCa>tGa p.S372* PRRT3_ENST00000411976.2_Nonsense_Mutation_p.S372*|PRRT3-AS1_ENST00000431558.1_RNA NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 372 Pro-rich. integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 GCCAGGGTCTGAGGGACCAGG 0.642000 63 168 0 0 0.014410 0 0 TERF1 7013 broad.mit.edu 37 8 73942628 73942628 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:73942628G>A ENST00000276603.5 + 7 968 c.945G>A c.(943-945)ttG>ttA p.L315L TERF1_ENST00000276602.6_Intron NM_017489.2 NP_059523.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 315 Interaction with RLIM. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) TATCCTTATTGAGGTGAAGTA 0.318000 6 28 0 0 0.001984 0 0 TRAFD1 10906 broad.mit.edu 37 12 112590581 112590581 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:112590581G>A ENST00000257604.5 + 12 2352 c.1735G>A c.(1735-1737)Gaa>Aaa p.E579K TRAFD1_ENST00000412615.2_Missense_Mutation_p.E579K NM_001143906.1 NP_001137378.1 O14545 TRAD1_HUMAN TRAF-type zinc finger domain containing 1 579 Poly-Glu. negative regulation of innate immune response intracellular protein binding|zinc ion binding kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 17 TGCAGAAGAGGAAGAGGAGGA 0.493000 14 72 0 0 0.003163 0 0 CDKL5 6792 broad.mit.edu 37 X 18646649 18646649 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:18646649G>A ENST00000379989.3 + 19 2940 c.2655G>A c.(2653-2655)ggG>ggA p.G885G CDKL5_ENST00000379996.3_Silent_p.G885G NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 885 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) CCTCTGGCGGGAGCAGCAACA 0.592000 43 47 0 0 0.014410 0 0 KIAA1522 57648 broad.mit.edu 37 1 33234319 33234319 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:33234319G>C ENST00000401073.2 + 4 599 c.529G>C c.(529-531)Gag>Cag p.E177Q KIAA1522_ENST00000373480.1_Missense_Mutation_p.E118Q|KIAA1522_ENST00000373481.3_Missense_Mutation_p.E129Q|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E118Q NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 118 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CTACGTGGCTGAGAGCTCCAC 0.602000 5 30 0 0 0.001168 0 0 C12orf49 79794 broad.mit.edu 37 12 117175661 117175661 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:117175661C>G ENST00000261318.3 - 1 205 c.45G>C c.(43-45)aaG>aaC p.K15N C12orf49_ENST00000536380.1_Missense_Mutation_p.E38Q NM_024738.1 NP_079014.1 Q9H741 CL049_HUMAN chromosome 12 open reading frame 49 15 extracellular region endometrium(1)|lung(1)|ovary(1)|skin(1) 4 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0281) GCACCCACCTCTTCCGCAGAA 0.721000 12 24 0 0 0.002450 0 0 GPR110 266977 broad.mit.edu 37 6 46977338 46977338 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977338C>T ENST00000371253.2 - 11 2048 c.1833G>A c.(1831-1833)tgG>tgA p.W611* GPR110_ENST00000283297.5_Nonsense_Mutation_p.W414*|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 611 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 TAATCTGCTTCCAAAACAAAG 0.438000 12 53 0 0 0.013537 0 0 FSCB 84075 broad.mit.edu 37 14 44974621 44974621 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:44974621C>T ENST00000340446.4 - 1 1861 c.1570G>A c.(1570-1572)Gaa>Aaa p.E524K NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 524 Ala-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AGCTGAATTTCAGCAGAGGCC 0.507000 5 35 0 0 0.000602 0 0 ETAA1 54465 broad.mit.edu 37 2 67630409 67630409 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:67630409G>C ENST00000272342.5 + 5 725 c.595G>C c.(595-597)Gat>Cat p.D199H ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 199 cytoplasm|nucleus p.D199H(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TAAACAATTTGATAAAAATAT 0.259000 29 65 0 0 0.012213 0 0 DNAH8 1769 broad.mit.edu 37 6 38791364 38791364 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:38791364G>C ENST00000359357.3 + 26 3350 c.3096G>C c.(3094-3096)ctG>ctC p.L1032L DNAH8_ENST00000449981.2_Silent_p.L1249L|DNAH8_ENST00000441566.1_Silent_p.L1032L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACCCCTCTCTGACTGAAATCA 0.318000 11 61 0 0 0.013537 0 0 OR2L3 391192 broad.mit.edu 37 1 248224207 248224207 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:248224207C>G ENST00000359959.3 + 1 224 c.224C>G c.(223-225)aCc>aGc p.T75S OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TACATCTCCACCATTGTTCCT 0.438000 48 274 0 0 0.014410 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19297418 19297418 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:19297418C>T ENST00000454498.2 - 6 1889 c.876G>A c.(874-876)ggG>ggA p.G292G CSGALNACT1_ENST00000311540.4_Silent_p.G292G|CSGALNACT1_ENST00000544602.1_Silent_p.G292G|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Silent_p.G292G|CSGALNACT1_ENST00000332246.6_Silent_p.G292G NM_001130518.1 NP_001123990.1 Q8TDX6 CGAT1_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 1 292 anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(111;0.182) GATGGACTCTCCCATCCTGCT 0.418000 17 36 0 0 0.008871 0 0 MIR520G 574484 broad.mit.edu 37 19 54225507 54225507 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:54225507G>A ENST00000385064.1 + 0 88 NR_030206.1 TTACCGTTTGGGAAAAGCAGT 0.393000 5 74 0 0 0.001168 0 0 CES2 8824 broad.mit.edu 37 16 66975679 66975679 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:66975679G>A ENST00000317091.4 + 8 2241 c.1257G>A c.(1255-1257)agG>agA p.R419R CES2_ENST00000417689.1_Silent_p.R419R NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 355 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) AGGTCATGAGGATCTATGATA 0.572000 62 177 0 0 0.014410 0 0 CUL5 8065 broad.mit.edu 37 11 107975080 107975080 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:107975080C>G ENST00000393094.2 + 19 2928 c.2312C>G c.(2311-2313)tCt>tGt p.S771C NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 771 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AGAGATGAATCTGATATCAAC 0.308000 29 112 0 0 0.012213 0 0 USP33 23032 broad.mit.edu 37 1 78163136 78163136 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:78163136C>T ENST00000370793.1 - 25 3041 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K USP33_ENST00000370794.3_Missense_Mutation_p.E868K|USP33_ENST00000357428.1_Missense_Mutation_p.E899K NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 899 DUSP 2. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 CATGTTTCTTCAGAAATCTGG 0.388000 35 114 0 0 0.004289 0 0 CUBN 8029 broad.mit.edu 37 10 16957877 16957877 + Nonsense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:16957877G>A ENST00000377833.4 - 46 7218 c.7153C>T c.(7153-7155)Cag>Tag p.Q2385* NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2385 CUB 17. 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) GAAGAATTCTGAAGGTTAAAG 0.413000 14 94 0 0 0.003163 0 0 SPTB 6710 broad.mit.edu 37 14 65259779 65259779 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:65259779C>G ENST00000389722.3 - 13 2655 c.2602G>C c.(2602-2604)Gag>Cag p.E868Q SPTB_ENST00000556626.1_Missense_Mutation_p.E868Q|SPTB_ENST00000542895.1_Missense_Mutation_p.E868Q|SPTB_ENST00000389720.3_Missense_Mutation_p.E868Q|SPTB_ENST00000389721.5_Missense_Mutation_p.E868Q NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 868 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) AGCCACTTCTCCTTCTCTCCC 0.602000 19 44 0 0 0.008871 0 0 ITPR1 3708 broad.mit.edu 37 3 4699900 4699900 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:4699900C>G ENST00000302640.8 + 12 1394 c.1044C>G c.(1042-1044)gaC>gaG p.D348E ITPR1_ENST00000423119.2_Missense_Mutation_p.D363E|ITPR1_ENST00000443694.2_Missense_Mutation_p.D348E|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.D363E|ITPR1_ENST00000357086.4_Missense_Mutation_p.D363E|ITPR1_ENST00000456211.2_Missense_Mutation_p.D348E NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 363 MIR 4. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) AAGGCAATGACATCTCCTCCA 0.507000 18 64 0 0 0.010504 0 0 GPR110 266977 broad.mit.edu 37 6 46977149 46977149 + Nonsense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977149C>T ENST00000371253.2 - 11 2237 c.2022G>A c.(2020-2022)tgG>tgA p.W674* GPR110_ENST00000283297.5_Nonsense_Mutation_p.W477*|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 674 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GCATGAGCATCCAGAAGAACA 0.498000 11 48 0 0 0.010729 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137420 40137420 + Missense_Mutation SNP A A T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:40137420A>T ENST00000278198.2 - 2 2386 c.423T>A c.(421-423)aaT>aaA p.N141K LRRC4C_ENST00000527150.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N141K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.N141K Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 141 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CAAAAGCTCCATTCGGGATGG 0.428000 20 62 0 0 0.012319 0 0 KCNIP4 80333 broad.mit.edu 37 4 20884280 20884280 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:20884280C>G ENST00000382152.2 - 2 281 c.114G>C c.(112-114)atG>atC p.M38I KCNIP4_ENST00000382149.4_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000359001.5_Intron|KCNIP4_ENST00000382150.4_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000447367.2_Intron NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 38 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) GCAAGAGCTTCATGAGCCGCT 0.433000 17 40 0 0 0.007413 0 0 DHX8 1659 broad.mit.edu 37 17 41599574 41599574 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:41599574C>T ENST00000262415.3 + 22 3495 c.3423C>T c.(3421-3423)ctC>ctT p.L1141L DHX8_ENST00000540306.1_Silent_p.L1141L NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1141 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CCAGTGCCCTCTTCAACAGAC 0.512000 14 57 0 0 0.003163 0 0 ST3GAL6 10402 broad.mit.edu 37 3 98512551 98512551 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:98512551C>G ENST00000265261.6 + 10 1010 c.588C>G c.(586-588)ctC>ctG p.L196L ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Silent_p.L314L|ST3GAL6_ENST00000394162.1_Silent_p.L314L NM_001271147.1 NP_001258076.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 314 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 CAGAGCAGCTCTTTTTGAAGG 0.353000 36 107 0 0 0.006230 0 0 CETN3 1070 broad.mit.edu 37 5 89705476 89705476 + Translation_Start_Site SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:89705476C>T ENST00000283122.3 - 1 127 c.3G>A c.(1-3)atG>atA p.M1I CETN3_ENST00000522864.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522842.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522083.1_Start_Codon_SNP_p.M1I|CETN3_ENST00000522565.1_Start_Codon_SNP_p.M1I NM_004365.2 NP_004356.2 O15182 CETN3_HUMAN centrin, EF-hand protein, 3 1 cell division|centrosome cycle|mitosis centriole calcium ion binding lung(3) 3 all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23) GAGCTAAACTCATTATCTCTT 0.582000 38 114 0 0 0.011902 0 0 UBE4A 9354 broad.mit.edu 37 11 118239345 118239345 + Splice_Site SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:118239345G>C ENST00000252108.3 + 3 252 c.e3-1 UBE4A_ENST00000431736.2_Splice_Site NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TTTTCTGGCAGATGAACTCCC 0.413000 87 249 0 0 0.014410 0 0 TOP2A 7153 broad.mit.edu 37 17 38567942 38567942 + Silent SNP T T C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:38567942T>C ENST00000423485.1 - 8 1076 c.918A>G c.(916-918)aaA>aaG p.K306K NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 306 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GCTGAAAGCCTTTTTCACTCA 0.318000 3 93 0 0 0.000602 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073674 73073674 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:73073674G>A ENST00000263674.3 + 14 5241 c.4891G>A c.(4891-4893)Gag>Aag p.E1631K NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1631 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCCCCGCCCAGAGCTGGTGCC 0.687000 17 35 0 0 0.004990 0 0 SHC2 25759 broad.mit.edu 37 19 422154 422154 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:422154C>T ENST00000264554.6 - 11 1611 c.1612G>A c.(1612-1614)Gag>Aag p.E538K NM_012435.2 NP_036567.2 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) transforming protein 2 538 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCACGCCCTCGGGGTCCACG 0.687000 5 10 0 0 0.001168 0 0 ALKBH4 54784 broad.mit.edu 37 7 102100194 102100194 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:102100194C>A ENST00000292566.3 - 2 217 c.178G>T c.(178-180)Gag>Tag p.E60* NM_017621.3 NP_060091.1 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 (E. coli) 60 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 AAGTCAGACTCCTCTGTGCCC 0.572000 13 77 1.49906e-05 1.54429e-05 0.002450 1 0 ISG20 3669 broad.mit.edu 37 15 89195491 89195491 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:89195491C>T ENST00000306072.5 + 3 737 c.379C>T c.(379-381)Cgt>Tgt p.R127C ISG20_ENST00000560741.1_Missense_Mutation_p.R127C|ISG20_ENST00000560746.1_3'UTR NM_002201.4 NP_002192.2 Q96AZ6 ISG20_HUMAN interferon stimulated exonuclease gene 20kDa 127 cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway PML body 3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity large_intestine(1)|lung(3)|prostate(1) 5 Lung NSC(78;0.0554)|all_lung(78;0.103) BRCA - Breast invasive adenocarcinoma(143;0.12) CCACTGCAGGCGTGTCTCCCT 0.617000 9 76 0 0 0.006214 0 0 PTDSS2 81490 broad.mit.edu 37 11 479110 479110 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:479110G>C ENST00000308020.5 + 4 569 c.393G>C c.(391-393)gtG>gtC p.V131V PTDSS2_ENST00000530087.1_3'UTR NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 131 integral to membrane autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 9 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735) Phosphatidylserine(DB00144) GGCTCTGCGTGAGTGTGGTCT 0.567000 60 236 0 0 0.014410 0 0 ZNF615 284370 broad.mit.edu 37 19 52497896 52497896 + Missense_Mutation SNP T T A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:52497896T>A ENST00000602063.1 - 6 782 c.433A>T c.(433-435)Aac>Tac p.N145Y ZNF615_ENST00000376716.5_Missense_Mutation_p.N145Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.N156Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.N150Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.N156Y Q8N8J6 ZN615_HUMAN zinc finger protein 615 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTTTTCTGGTTTTCAAAACTT 0.318000 8 87 0 0 0.003080 0 0 NOL8 55035 broad.mit.edu 37 9 95077919 95077919 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:95077919C>T ENST00000545558.1 - 7 1480 c.988G>A c.(988-990)Gaa>Aaa p.E330K NOL8_ENST00000358855.4_Missense_Mutation_p.E262K|NOL8_ENST00000542053.1_Missense_Mutation_p.E262K|NOL8_ENST00000535387.1_Missense_Mutation_p.E330K|NOL8_ENST00000442668.2_Missense_Mutation_p.E330K Q76FK4 NOL8_HUMAN nucleolar protein 8 330 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 GGATCACTTTCAGATTCATTT 0.353000 21 35 0 0 0.008871 0 0 APOLD1 81575 broad.mit.edu 37 12 12940238 12940238 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:12940238G>A ENST00000356591.4 + 2 484 c.399G>A c.(397-399)gaG>gaA p.E133E RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Silent_p.E164E NM_030817.2 NP_110444.3 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 164 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) AGATGCGAGAGATCCTGAGCT 0.642000 40 99 0 0 0.009718 0 0 MYO7A 4647 broad.mit.edu 37 11 76891443 76891443 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:76891443G>C ENST00000409709.3 + 22 2882 c.2610G>C c.(2608-2610)gaG>gaC p.E870D MYO7A_ENST00000409893.1_Missense_Mutation_p.E870D|MYO7A_ENST00000458637.2_Missense_Mutation_p.E870D|MYO7A_ENST00000409619.2_Missense_Mutation_p.E859D NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 870 actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TCGAGGCTGAGAAAATGCGGC 0.597000 12 23 0 0 0.002450 0 0 KIAA1522 57648 broad.mit.edu 37 1 33234274 33234274 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:33234274G>A ENST00000401073.2 + 4 554 c.484G>A c.(484-486)Gaa>Aaa p.E162K KIAA1522_ENST00000373480.1_Missense_Mutation_p.E103K|KIAA1522_ENST00000373481.3_Missense_Mutation_p.E114K|KIAA1522_ENST00000294521.3_Missense_Mutation_p.E103K NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 103 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GGGGCCGGATGAAGACAACAT 0.562000 11 49 0 0 0.010729 0 0 RSAD2 91543 broad.mit.edu 37 2 7023543 7023543 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:7023543C>G ENST00000382040.3 + 2 524 c.388C>G c.(388-390)Caa>Gaa p.Q130E RSAD2_ENST00000541728.1_Missense_Mutation_p.Q23E NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 130 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) GCCATTTCTTCAAGACCGGGG 0.453000 12 88 0 0 0.013537 0 0 TM9SF2 9375 broad.mit.edu 37 13 100204467 100204467 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:100204467G>A ENST00000376387.4 + 13 1565 c.1375G>A c.(1375-1377)Gaa>Aaa p.E459K NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 459 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CCTCTGGGGAGAAGGATCTTC 0.423000 22 132 0 0 0.014323 0 0 KPNA2 3838 broad.mit.edu 37 17 66033573 66033573 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:66033573G>A ENST00000537025.2 + 3 795 c.175G>A c.(175-177)Gat>Aat p.D59N KPNA2_ENST00000330459.3_Missense_Mutation_p.D59N P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 59 IBB. DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) ATTTCCTGATGATGCTACTTC 0.423000 65 78 0 0 0.014410 0 0 PDCD7 10081 broad.mit.edu 37 15 65412134 65412134 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:65412134C>G ENST00000204549.4 - 3 1222 c.1168G>C c.(1168-1170)Gaa>Caa p.E390Q NM_005707.1 NP_005698.1 Q8N8D1 PDCD7_HUMAN programmed cell death 7 390 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 tgtttcttttctaattctctt 0.373000 12 55 0 0 0.010729 0 0 AHNAK 79026 broad.mit.edu 37 11 62286867 62286867 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:62286867C>G ENST00000378024.4 - 5 15296 c.15022G>C c.(15022-15024)Gag>Cag p.E5008Q AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5008 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCAGGAGTCTCAAGGTTCAGC 0.423000 58 147 0 0 0.014410 0 0 G3BP1 10146 broad.mit.edu 37 5 151169928 151169928 + Nonsense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:151169928C>G ENST00000394123.3 + 3 285 c.140C>G c.(139-141)tCa>tGa p.S47* G3BP1_ENST00000543466.1_5'UTR|G3BP1_ENST00000356245.3_Nonsense_Mutation_p.S47* Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 47 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GGATTGGATTCAAATGGAAAG 0.343000 6 30 0 0 0.003080 0 0 C17orf75 64149 broad.mit.edu 37 17 30661853 30661853 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:30661853C>G ENST00000577809.1 - 7 724 c.675G>C c.(673-675)ttG>ttC p.L225F RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.L225F NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 225 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GAGTGTAACTCAAAGCCTATG 0.363000 10 21 0 0 0.013537 0 0 MAP2K3 5606 broad.mit.edu 37 17 21208407 21208407 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:21208407C>T ENST00000342679.4 + 9 990 c.741C>T c.(739-741)gtC>gtT p.V247V MAP2K3_ENST00000361818.5_Silent_p.V218V|MAP2K3_ENST00000316920.6_Silent_p.V218V NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 247 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GCTACAATGTCAAGTCCGACG 0.647000 25 125 0 0 0.008361 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98362077 98362077 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:98362077C>G ENST00000339364.5 - 16 2439 c.2320G>C c.(2320-2322)Gag>Cag p.E774Q PIK3AP1_ENST00000371109.3_Missense_Mutation_p.E373Q|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.E596Q NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 774 Pro-rich. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) GGGGGTCTCTCGAGGGACATG 0.507000 26 40 0 0 0.007291 0 0 NCDN 23154 broad.mit.edu 37 1 36024783 36024783 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:36024783G>A ENST00000373243.2 + 2 492 c.109G>A c.(109-111)Gag>Aag p.E37K NCDN_ENST00000373253.3_Missense_Mutation_p.E20K|NCDN_ENST00000356090.4_Missense_Mutation_p.E37K|NCDN_ENST00000459931.1_3'UTR NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 37 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCCCACCCTGGAGCGCTACCT 0.597000 21 78 0 0 0.003330 0 0 ADRB1 153 broad.mit.edu 37 10 115804636 115804636 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:115804636C>T ENST00000369295.2 + 1 831 c.745C>T c.(745-747)Cgc>Tgc p.R249C NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 249 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GCGGGTGTTCCGCGAGGCCCA 0.687000 10 22 0 0 0.002450 0 0 ATP2B2 491 broad.mit.edu 37 3 10392202 10392202 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:10392202G>A ENST00000397077.1 - 14 2636 c.2061C>T c.(2059-2061)ggC>ggT p.G687G ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000352432.4_Silent_p.G732G|ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000360273.2_Silent_p.G732G Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 732 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TGATATTGTCGCCAGTGACCA 0.632000 26 72 0 0 0.007291 0 0 IQSEC1 9922 broad.mit.edu 37 3 12983123 12983123 + Nonsense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:12983123G>C ENST00000273221.4 - 2 524 c.308C>G c.(307-309)tCa>tGa p.S103* IQSEC1_ENST00000473088.1_5'UTR NM_014869.5 NP_055684.3 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 103 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAGTGAGCGTGAGCGCTTGAT 0.662000 5 22 0 0 0.001168 0 0 VPS41 27072 broad.mit.edu 37 7 38785177 38785177 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:38785177C>G ENST00000310301.4 - 23 2017 c.1963G>C c.(1963-1965)Gag>Cag p.E655Q VPS41_ENST00000395969.2_Missense_Mutation_p.E630Q NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 655 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 TAAACTGTCTCTTCTACAAAG 0.338000 45 154 0 0 0.014410 0 0 GEMIN7 79760 broad.mit.edu 37 19 45593559 45593559 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:45593559C>T ENST00000270257.4 + 3 434 c.187C>T c.(187-189)Cgg>Tgg p.R63W GEMIN7_ENST00000591747.1_Missense_Mutation_p.R63W|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R63W|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R63W|CTB-179K24.3_ENST00000586556.1_RNA NM_001007269.1|NM_001007270.1|NM_024707.2 NP_001007270.1|NP_001007271.1|NP_078983.1 Q9H840 GEMI7_HUMAN gem (nuclear organelle) associated protein 7 63 ncRNA metabolic process|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding endometrium(1)|kidney(1)|lung(4)|ovary(1) 7 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0131) AGCCGCCCTTCGGGAGCGTTA 0.632000 4 57 0 0 0.001168 0 0 ZACN 353174 broad.mit.edu 37 17 74077658 74077658 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74077658C>G ENST00000334586.5 + 7 785 c.702C>G c.(700-702)atC>atG p.I234M EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 234 Leu-rich. 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 TCAAGTCCATCATCGCTCTCT 0.642000 4 175 0 0 0.001168 0 0 GPR110 266977 broad.mit.edu 37 6 46977742 46977742 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977742C>T ENST00000371253.2 - 11 1644 c.1429G>A c.(1429-1431)Gaa>Aaa p.E477K GPR110_ENST00000283297.5_Missense_Mutation_p.E280K|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 477 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 ATAATAGTTTCTGGAAGGGAT 0.443000 22 77 0 0 0.014323 0 0 STRA6 64220 broad.mit.edu 37 15 74477352 74477352 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:74477352G>C ENST00000323940.5 - 13 1380 c.1135C>G c.(1135-1137)Ctg>Gtg p.L379V STRA6_ENST00000416286.3_Missense_Mutation_p.L371V|STRA6_ENST00000574278.1_Missense_Mutation_p.L394V|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Missense_Mutation_p.L418V|STRA6_ENST00000535552.1_Missense_Mutation_p.L416V|STRA6_ENST00000449139.2_Missense_Mutation_p.L379V|STRA6_ENST00000395105.4_Missense_Mutation_p.L379V|STRA6_ENST00000423167.2_Missense_Mutation_p.L370V NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 379 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 ATCAGGACCAGGAAGGTGAGT 0.597000 10 36 0 0 0.013537 0 0 YY1AP1 55249 broad.mit.edu 37 1 155629559 155629559 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:155629559C>T ENST00000368340.5 - 10 2604 c.2496G>A c.(2494-2496)ccG>ccA p.P832P YY1AP1_ENST00000535662.1_Silent_p.P560P|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Silent_p.P703P|YY1AP1_ENST00000404643.1_Silent_p.P694P|YY1AP1_ENST00000407221.1_Silent_p.P683P|YY1AP1_ENST00000361831.5_Silent_p.P703P|YY1AP1_ENST00000368330.2_Silent_p.P714P|YY1AP1_ENST00000368339.5_Silent_p.P852P|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Silent_p.P714P|YY1AP1_ENST00000311573.5_Silent_p.P683P|YY1AP1_ENST00000295566.4_Silent_p.P760P|YY1AP1_ENST00000355499.4_Silent_p.P714P NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CCTGAGGGAGCGGCTCCAGAG 0.512000 25 105 0 0 0.003330 0 0 EPHA2 1969 broad.mit.edu 37 1 16461683 16461683 + Splice_Site SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:16461683C>G ENST00000358432.5 - 7 1584 c.1428_splice c.e7-1 p.G477_splice NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 477 Fibronectin type-III 2. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GTTGGAGTCTCCCTGTGGGTG 0.677000 66 144 0 0 0.014410 0 0 GNB1 2782 broad.mit.edu 37 1 1721851 1721851 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:1721851C>T ENST00000378609.4 - 9 1013 c.682G>A c.(682-684)Gac>Aac p.D228N NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1 228 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) GCATTGATGTCAGACTCGTGG 0.532000 6 93 0 0 0.001984 0 0 PHRF1 57661 broad.mit.edu 37 11 605232 605232 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:605232G>A ENST00000264555.5 + 11 1394 c.1266G>A c.(1264-1266)ctG>ctA p.L422L PHRF1_ENST00000533464.1_Silent_p.L418L|PHRF1_ENST00000416188.2_Silent_p.L422L|PHRF1_ENST00000413872.2_Silent_p.L421L NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 422 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 TGGGGCTGCTGAGAGCGGATA 0.597000 33 95 0 0 0.012213 0 0 TP63 8626 broad.mit.edu 37 3 189582183 189582183 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:189582183G>A ENST00000264731.3 + 5 831 c.742G>A c.(742-744)Gag>Aag p.E248K TP63_ENST00000320472.5_Missense_Mutation_p.E248K|TP63_ENST00000392461.3_Missense_Mutation_p.E154K|TP63_ENST00000392460.3_Missense_Mutation_p.E248K|TP63_ENST00000392463.2_Missense_Mutation_p.E154K|TP63_ENST00000437221.1_Missense_Mutation_p.E154K|TP63_ENST00000440651.2_Missense_Mutation_p.E248K|TP63_ENST00000354600.5_Missense_Mutation_p.E154K|TP63_ENST00000418709.2_Missense_Mutation_p.E248K|TP63_ENST00000456148.1_Missense_Mutation_p.E154K|TP63_ENST00000449992.1_Missense_Mutation_p.E69K|TP63_ENST00000382063.4_Missense_Mutation_p.E163K NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 248 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCCCAACCATGAGCTGAGCCG 0.517000 HNSCC(45;0.13) 25 64 0 0 0.003954 0 0 TGM2 7052 broad.mit.edu 37 20 36789876 36789876 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:36789876C>T ENST00000361475.2 - 2 309 c.136G>A c.(136-138)Gag>Aag p.E46K TGM2_ENST00000536724.1_Intron|TGM2_ENST00000536701.1_Missense_Mutation_p.E46K NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 46 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) TTGCGGCCCTCAAAGTGCAGG 0.642000 9 72 0 0 0.006214 0 0 CACNB2 783 broad.mit.edu 37 10 18827162 18827162 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:18827162C>G ENST00000396576.2 + 12 1692 c.1191C>G c.(1189-1191)caC>caG p.H397Q CACNB2_ENST00000377329.4_Missense_Mutation_p.H398Q|CACNB2_ENST00000377319.3_Missense_Mutation_p.H359Q|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000352115.6_Missense_Mutation_p.H428Q|CACNB2_ENST00000377328.1_Missense_Mutation_p.H202Q|CACNB2_ENST00000377315.4_Missense_Mutation_p.H404Q|CACNB2_ENST00000324631.7_Missense_Mutation_p.H452Q|CACNB2_ENST00000282343.8_Missense_Mutation_p.H424Q|CACNB2_ENST00000377331.2_Missense_Mutation_p.H400Q NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 452 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CCTGTGAGCACCTTGCCGACT 0.552000 47 134 0 0 0.014410 0 0 STRN4 29888 broad.mit.edu 37 19 47226133 47226133 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:47226133C>T ENST00000391910.3 - 14 2311 c.1861G>A c.(1861-1863)Gac>Aac p.D621N STRN4_ENST00000263280.6_Missense_Mutation_p.D614N|STRN4_ENST00000539396.1_Missense_Mutation_p.D495N Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 614 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) AAGACGGTGTCGCCAGAGCGG 0.637000 29 99 0 0 0.012213 0 0 DNM3 26052 broad.mit.edu 37 1 172348233 172348233 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:172348233C>T ENST00000358155.4 + 18 2145 c.1969C>T c.(1969-1971)Cgc>Tgc p.R657C DNM3_ENST00000355305.5_Missense_Mutation_p.R663C|DNM3_ENST00000367731.1_Missense_Mutation_p.R653C NM_015569.3 NP_056384.2 Q9UQ16 DYN3_HUMAN dynamin 3 663 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGAGACCATTCGCAACCTCGT 0.383000 7 35 0 0 0.001984 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535910 69535910 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:69535910C>T ENST00000338206.5 - 1 436 c.427G>A c.(427-429)Gag>Aag p.E143K NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 143 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity AACTTTGACTCTTGTAGTTTC 0.363000 95 271 0 0 0.014410 0 0 ZNF343 79175 broad.mit.edu 37 20 2474452 2474452 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:2474452C>T ENST00000278772.4 - 3 577 c.90G>A c.(88-90)aaG>aaA p.K30K ZNF343_ENST00000358413.2_Silent_p.K30K|RP4-734P14.4_ENST00000461548.1_Silent_p.K30K|ZNF343_ENST00000381253.1_Silent_p.K30K NM_024325.4 NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 30 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 GGGTCAATTTCTTCATAGTCT 0.458000 35 154 0 0 0.003271 0 0 LINGO1 84894 broad.mit.edu 37 15 77907918 77907918 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:77907918C>A ENST00000355300.6 - 2 505 c.331G>T c.(331-333)Gag>Tag p.E111* LINGO1_ENST00000561030.1_Nonsense_Mutation_p.E105* NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 111 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GCGCCGGGCTCCACGGCGCTC 0.617000 6 10 5.9392e-07 6.18954e-07 0.001168 1 0 L3MBTL2 83746 broad.mit.edu 37 22 41613186 41613186 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:41613186C>T ENST00000216237.5 + 5 738 c.580C>T c.(580-582)Ccc>Tcc p.P194S RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 194 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAAGGCTGCTCCCGTCAGCTG 0.632000 25 54 0 0 0.003330 0 0 CSMD1 64478 broad.mit.edu 37 8 2823375 2823375 + Missense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:2823375C>A ENST00000520002.1 - 60 9760 c.9205G>T c.(9205-9207)Gtc>Ttc p.V3069F CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3068F|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3069F|CSMD1_ENST00000602723.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3069 Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTTCCATGACATAGCCTGGG 0.493000 9 6 2.17888e-05 2.2414e-05 0.006214 1 0 GJA3 2700 broad.mit.edu 37 13 20716765 20716765 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr13:20716765C>G ENST00000241125.3 - 2 839 c.663G>C c.(661-663)gaG>gaC p.E221D NM_021954.3 NP_068773.2 Q9Y6H8 CXA3_HUMAN gap junction protein, alpha 3, 46kDa 221 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) GGTGGTAGATCTCCAGCATGT 0.662000 4 23 0 0 0.000602 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57235099 57235099 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:57235099C>G ENST00000335099.3 + 2 366 c.49C>G c.(49-51)Ctc>Gtc p.L17V RTN4RL2_ENST00000533205.1_Missense_Mutation_p.L17V|RTN4RL2_ENST00000395120.2_Missense_Mutation_p.L17V NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 17 axon regeneration anchored to plasma membrane receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 CTCGGCCTGCCTCCTGCTGAT 0.677000 32 105 0 0 0.012213 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 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) 43 59 0 0 0.009718 0 0 ASMTL 8623 broad.mit.edu 37 X 1546743 1546743 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chrX:1546743C>T ENST00000534940.1 - 7 832 c.607G>A c.(607-609)Gag>Aag p.E203K ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381317.3_Missense_Mutation_p.E261K|ASMTL_ENST00000416733.2_Missense_Mutation_p.E185K|ASMTL_ENST00000381333.4_Missense_Mutation_p.E245K NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 261 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTCCCGCCTCGGCCTTCTCA 0.697000 7 57 0 0 0.008291 0 0 EBF3 253738 broad.mit.edu 37 10 131640406 131640406 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:131640406G>A ENST00000368648.3 - 13 1391 c.1319C>T c.(1318-1320)tCa>tTa p.S440L EBF3_ENST00000355311.5_Missense_Mutation_p.S449L NM_001005463.2 NP_001005463.1 Q9H4W6 COE3_HUMAN early B-cell factor 3 449 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 44 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) TGACGTCTCTGACACGTTGAC 0.612000 35 92 0 0 0.006999 0 0 ZC3H8 84524 broad.mit.edu 37 2 112989456 112989456 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr2:112989456G>A ENST00000409573.1 - 7 931 c.802C>T c.(802-804)Cat>Tat p.H268Y ZC3H8_ENST00000272570.5_Missense_Mutation_p.H268Y|ZC3H8_ENST00000476902.1_5'UTR Q8N5P1 ZC3H8_HUMAN zinc finger CCCH-type containing 8 268 apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis nucleus RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 7 AGTGGAGCATGAGAAAACTTG 0.303000 20 81 0 0 0.012319 0 0 SLC36A2 153201 broad.mit.edu 37 5 150723127 150723127 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:150723127G>A ENST00000335244.4 - 3 417 c.288C>T c.(286-288)ttC>ttT p.F96F SLC36A2_ENST00000521967.1_Silent_p.F96F NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 96 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCAGGCAATGAAGCCCATCA 0.527000 31 109 0 0 0.010818 0 0 TRMT2A 27037 broad.mit.edu 37 22 20102116 20102116 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:20102116G>C ENST00000252136.7 - 7 1602 c.1214C>G c.(1213-1215)tCt>tGt p.S405C TRMT2A_ENST00000404751.3_Missense_Mutation_p.S405C|TRMT2A_ENST00000403707.3_Missense_Mutation_p.S405C|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Missense_Mutation_p.S405C NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 405 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 GGCGTGTGGAGAGATCCGGAA 0.632000 21 98 0 0 0.002780 0 0 KNTC1 9735 broad.mit.edu 37 12 123014683 123014683 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:123014683G>C ENST00000333479.7 + 2 250 c.73G>C c.(73-75)Gaa>Caa p.E25Q KNTC1_ENST00000450485.2_Missense_Mutation_p.E25Q NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 25 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTCAAGAAAAGAACATGGAAC 0.383000 34 113 0 0 0.013726 0 0 CASP5 838 broad.mit.edu 37 11 104871152 104871152 + Missense_Mutation SNP A A T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:104871152A>T ENST00000393141.2 - 6 858 c.827T>A c.(826-828)gTa>gAa p.V276E CASP5_ENST00000526056.1_Missense_Mutation_p.V276E|CASP5_ENST00000444749.2_Missense_Mutation_p.V205E|CASP5_ENST00000531367.1_Missense_Mutation_p.V121E|CASP5_ENST00000418434.1_Missense_Mutation_p.V121E|CASP5_ENST00000260315.3_Missense_Mutation_p.V263E|CASP5_ENST00000393139.2_3'UTR NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 263 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AGACATGAGTACCAAGAACGT 0.458000 22 81 0 0 0.003330 0 0 KCNT2 343450 broad.mit.edu 37 1 196395022 196395022 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:196395022G>C ENST00000367433.5 - 11 1182 c.1081C>G c.(1081-1083)Caa>Gaa p.Q361E KCNT2_ENST00000294725.8_Missense_Mutation_p.Q361E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q361E Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 361 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GCTGAACCTTGAAGGTAGATA 0.403000 29 59 0 0 0.009535 0 0 KRT2 3849 broad.mit.edu 37 12 53045411 53045411 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:53045411C>G ENST00000309680.3 - 1 537 c.516G>C c.(514-516)caG>caC p.Q172H NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 172 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) CCTTCACATTCTGGATCTCTG 0.527000 41 136 0 0 0.009718 0 0 NUCB2 4925 broad.mit.edu 37 11 17333590 17333590 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:17333590G>C ENST00000529010.1 + 10 1054 c.835G>C c.(835-837)Gac>Cac p.D279H NUCB2_ENST00000323688.6_Missense_Mutation_p.D279H|NUCB2_ENST00000458064.2_Missense_Mutation_p.D279H NM_005013.2 NP_005004.1 P80303 NUCB2_HUMAN nucleobindin 2 279 Binds to necdin (By similarity). cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GAAAGTATATGACCCTAAAAA 0.299000 10 133 0 0 0.008291 0 0 ANKS1A 23294 broad.mit.edu 37 6 35027938 35027938 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:35027938G>A ENST00000360359.3 + 13 2230 c.2092G>A c.(2092-2094)Gag>Aag p.E698K ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 698 SAM 1. cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 ACGGACGCTGGAGCAGAGTGT 0.527000 6 17 0 0 0.003080 0 0 FCGBP 8857 broad.mit.edu 37 19 40368869 40368869 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:40368869C>T ENST00000221347.6 - 28 12486 c.12479G>A c.(12478-12480)gGt>gAt p.G4160D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4160 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGTGAGCACACCGTTCACCTG 0.637000 25 217 0 0 0.010818 0 0 KLHL38 340359 broad.mit.edu 37 8 124664436 124664436 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:124664436G>A ENST00000325995.7 - 1 754 c.731C>T c.(730-732)tCc>tTc p.S244F CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 244 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TGCAGGCGAGGACTGCAGGAG 0.552000 19 80 0 0 0.010504 0 0 PARP8 79668 broad.mit.edu 37 5 50091070 50091070 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:50091070G>C ENST00000281631.5 + 12 1405 c.1247G>C c.(1246-1248)aGa>aCa p.R416T PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.R169T|PARP8_ENST00000505697.2_Missense_Mutation_p.R416T|PARP8_ENST00000514067.2_Missense_Mutation_p.R416T|PARP8_ENST00000503750.2_Missense_Mutation_p.R416T|PARP8_ENST00000505554.1_Missense_Mutation_p.R395T NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 416 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) AGTAATCTCAGAATGGAAGAA 0.418000 12 76 0 0 0.010729 0 0 TPM3 7170 broad.mit.edu 37 1 154144523 154144523 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:154144523C>G ENST00000368533.3 - 5 565 c.513G>C c.(511-513)ctG>ctC p.L171L TPM3_ENST00000302206.5_Intron|TPM3_ENST00000368530.2_Intron|TPM3_ENST00000341485.5_Silent_p.L155L|TPM3_ENST00000271850.7_Silent_p.L208L|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000328159.4_Silent_p.L171L|TPM3_ENST00000368531.2_Silent_p.L171L|TPM3_ENST00000341372.3_Silent_p.L146L|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron NM_001043352.1|NM_001278188.1|NM_153649.3 NP_001036817.1|NP_001265117.1|NP_705935.1 P06753 TPM3_HUMAN tropomyosin 3 207 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) CAGCAGCACTCAGACACTTCA 0.473000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 44 329 0 0 0.014410 0 0 CNTLN 54875 broad.mit.edu 37 9 17143343 17143343 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:17143343C>G ENST00000380647.3 + 2 502 c.418C>G c.(418-420)Ctc>Gtc p.L140V CNTLN_ENST00000262360.5_Missense_Mutation_p.L140V|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Missense_Mutation_p.L140V|CNTLN_ENST00000425824.1_Missense_Mutation_p.L140V Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 140 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AAACCCAGATCTCACACAAGT 0.348000 5 178 0 0 0.001168 0 0 GGT3P 2679 broad.mit.edu 37 22 18769234 18769234 + RNA SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:18769234C>G ENST00000412448.1 - 0 1052 TCCCGAAGCACCTTTCTATCC 0.647000 4 20 0 0 0.003080 0 0 GPR110 266977 broad.mit.edu 37 6 46977208 46977208 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977208C>T ENST00000371253.2 - 11 2178 c.1963G>A c.(1963-1965)Gga>Aga p.G655R GPR110_ENST00000283297.5_Missense_Mutation_p.G458R|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 655 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 GTGCAGACTCCAGAAGGGTTC 0.498000 7 33 0 0 0.003080 0 0 DOCK1 1793 broad.mit.edu 37 10 129207596 129207596 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr10:129207596G>A ENST00000280333.6 + 42 4330 c.4221G>A c.(4219-4221)gtG>gtA p.V1407V NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1407 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GCTTCACAGTGAAGCCCAAAC 0.493000 12 95 0 0 0.002450 0 0 GANC 2595 broad.mit.edu 37 15 42632913 42632913 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:42632913G>A ENST00000318010.8 + 18 2353 c.2113G>A c.(2113-2115)Gaa>Aaa p.E705K NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 705 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GTTCCCTGATGAACTAAAGAC 0.343000 23 71 0 0 0.003330 0 0 DSCAM 1826 broad.mit.edu 37 21 41684117 41684117 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr21:41684117C>G ENST00000400454.1 - 9 2430 c.1953G>C c.(1951-1953)acG>acC p.T651T NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 651 Ig-like C2-type 7. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCAAGGAGCTCGTGAAGTCAA 0.547000 20 78 0 0 0.012319 0 0 BRD8 10902 broad.mit.edu 37 5 137497522 137497522 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:137497522C>T ENST00000254900.5 - 17 2583 c.2212G>A c.(2212-2214)Gat>Aat p.D738N BRD8_ENST00000411594.2_Missense_Mutation_p.D741N|BRD8_ENST00000230901.5_Missense_Mutation_p.D811N|BRD8_ENST00000402931.1_Missense_Mutation_p.D738N|BRD8_ENST00000455658.2_Missense_Mutation_p.D697N|BRD8_ENST00000515014.1_5'UTR NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 738 Bromo 1. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GCTATGTCATCTGTAACAGGC 0.463000 16 65 0 0 0.004990 0 0 GALR2 8811 broad.mit.edu 37 17 74071276 74071276 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr17:74071276C>T ENST00000329003.3 + 1 402 c.312C>T c.(310-312)ctC>ctT p.L104L NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 104 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 TGCACTTCCTCATCTTCCTCA 0.647000 14 70 0 0 0.002450 0 0 C12orf39 80763 broad.mit.edu 37 12 21680692 21680692 + Silent SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:21680692G>C ENST00000256969.2 + 4 343 c.177G>C c.(175-177)cgG>cgC p.R59R NM_030572.2 NP_085049.1 Q9BT56 SPXN_HUMAN chromosome 12 open reading frame 39 59 extracellular region|nucleus|transport vesicle endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1) 7 ACCAGAGCCGGAGAAAGGACC 0.647000 4 10 0 0 0.009096 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40257961 40257961 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:40257961G>C ENST00000263791.5 + 8 977 c.934G>C c.(934-936)Gag>Cag p.E312Q EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E312Q|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.E312Q NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 312 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CTTGTTGTATGAGTGGGTCCT 0.408000 16 63 0 0 0.006122 0 0 NCALD 83988 broad.mit.edu 37 8 102701558 102701558 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:102701558C>T ENST00000395923.1 - 6 1020 c.561G>A c.(559-561)ccG>ccA p.P187P NCALD_ENST00000521599.1_Silent_p.P187P|NCALD_ENST00000220931.6_Silent_p.P187P|NCALD_ENST00000311028.3_Silent_p.P187P|NCALD_ENST00000519508.2_Silent_p.P187P|NCALD_ENST00000522951.1_Intron NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1 NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1 P61601 NCALD_HUMAN neurocalcin delta 187 synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding endometrium(1)|large_intestine(2)|lung(4)|prostate(1) 8 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) CGGCACTGCTCGGGTCGCACT 0.502000 5 27 0 0 0.000602 0 0 RABEPK 10244 broad.mit.edu 37 9 127990317 127990317 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:127990317G>A ENST00000373538.3 + 6 965 c.655G>A c.(655-657)Gac>Aac p.D219N RABEPK_ENST00000259460.8_Missense_Mutation_p.D168N|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Missense_Mutation_p.D219N NM_005833.3 NP_005824.2 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 219 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 ATTCTATGATGACCTCCACTG 0.443000 13 26 0 0 0.013537 0 0 GPR110 266977 broad.mit.edu 37 6 46977656 46977656 + Silent SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:46977656C>G ENST00000371253.2 - 11 1730 c.1515G>C c.(1513-1515)gtG>gtC p.V505V GPR110_ENST00000283297.5_Silent_p.V308V|GPR110_ENST00000449332.2_5'UTR NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 505 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CCGTGGATATCACAGGTCCAT 0.408000 20 82 0 0 0.002780 0 0 RASGRP2 10235 broad.mit.edu 37 11 64510267 64510267 + Splice_Site SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64510267G>A ENST00000377494.1 - 1 994 c.73_splice c.e1+1 p.F24_splice RASGRP2_ENST00000377489.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000354024.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000377487.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000394432.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000394430.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000377497.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000394429.1_Splice_Site_p.F24_splice|RASGRP2_ENST00000377486.3_Splice_Site_p.F24_splice|RASGRP2_ENST00000394428.1_Splice_Site_p.F24_splice Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 24 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCCACTCACCGAAGGCTTCGA 0.726000 4 18 0 0 0.009096 0 0 TRERF1 55809 broad.mit.edu 37 6 42227372 42227372 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr6:42227372C>T ENST00000541110.1 - 9 2602 c.2034G>A c.(2032-2034)ccG>ccA p.P678P TRERF1_ENST00000372917.4_Silent_p.P575P|TRERF1_ENST00000372922.4_Silent_p.P658P|TRERF1_ENST00000340840.2_Silent_p.P575P|TRERF1_ENST00000354325.2_Silent_p.P575P Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 658 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) AGAGAGGTTCCGGCCGGTGCC 0.652000 21 66 0 0 0.010504 0 0 CRTAP 10491 broad.mit.edu 37 3 33155701 33155701 + Silent SNP C C T rs114946269 by1000genomes TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr3:33155701C>T ENST00000320954.6 + 1 231 c.132C>T c.(130-132)ctC>ctT p.L44L CRTAP_ENST00000449224.1_Silent_p.L44L NM_006371.4 NP_006362.1 O75718 CRTAP_HUMAN cartilage associated protein 44 proteinaceous extracellular matrix binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 TGATGCCGCTCGAGTCGGCCT 0.697000 6 22 0 0 0.001984 0 0 RPUSD1 113000 broad.mit.edu 37 16 836894 836894 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:836894G>A ENST00000565809.1 - 4 463 c.341C>T c.(340-342)tCg>tTg p.S114L RPUSD1_ENST00000561734.1_Silent_p.L148L|RPUSD1_ENST00000007264.2_Silent_p.L148L|RPUSD1_ENST00000567114.1_Silent_p.L19L Q9UJJ7 RUSD1_HUMAN RNA pseudouridylate synthase domain containing 1 113 pseudouridine synthesis pseudouridine synthase activity|RNA binding endometrium(3)|lung(2)|skin(2) 7 Hepatocellular(780;0.00335) CCAGAACCACGAGATCTGTGA 0.632000 31 95 0 0 0.010818 0 0 POLR3H 171568 broad.mit.edu 37 22 41925317 41925317 + Silent SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:41925317C>T ENST00000355209.4 - 6 928 c.585G>A c.(583-585)ctG>ctA p.L195L POLR3H_ENST00000396504.2_Silent_p.L195L|POLR3H_ENST00000337566.5_Silent_p.L166L|POLR3H_ENST00000407461.1_Silent_p.L195L NM_001018050.2 NP_001018060.1 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) 195 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(1)|lung(5)|skin(1)|urinary_tract(1) 8 AGAGAAGGCCCAGGCCTGGCT 0.597000 9 34 0 0 0.008291 0 0 UBA6 55236 broad.mit.edu 37 4 68514899 68514899 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:68514899G>A ENST00000322244.4 - 14 1194 c.1135C>T c.(1135-1137)Ctc>Ttc p.L379F NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 379 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 GTCCAAGAGAGCCAATGCACA 0.398000 12 49 0 0 0.013537 0 0 CCDC135 84229 broad.mit.edu 37 16 57761225 57761225 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:57761225G>A ENST00000360716.3 + 16 2321 c.2100G>A c.(2098-2100)ctG>ctA p.L700L CCDC135_ENST00000336825.8_Silent_p.L635L|CCDC135_ENST00000394337.4_Silent_p.L700L Q8IY82 CC135_HUMAN coiled-coil domain containing 135 700 cytoplasm p.L700L(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 TGGAGATTCTGAAGCTTCGAG 0.552000 44 111 0 0 0.014410 0 0 EIF3G 8666 broad.mit.edu 37 19 10226446 10226446 + Missense_Mutation SNP C C G TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr19:10226446C>G ENST00000253108.4 - 9 796 c.754G>C c.(754-756)Gag>Cag p.E252Q NM_003755.3 NP_003746.2 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, subunit G 252 RRM. cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) AGGTCGGTCTCACGCGTGTCC 0.637000 44 87 0 0 0.014410 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30691787 30691787 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:30691787C>T ENST00000215790.7 - 4 627 c.463G>A c.(463-465)Gag>Aag p.E155K RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.E29K|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.E67K|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.E162K NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 155 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 AGGTCACGCTCAATCACGTCC 0.617000 9 48 0 0 0.013537 0 0 SKP2 6502 broad.mit.edu 37 5 36181975 36181975 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr5:36181975G>C ENST00000274255.6 + 10 1313 c.1117G>C c.(1117-1119)Gat>Cat p.D373H SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Missense_Mutation_p.D159H|SKP2_ENST00000508514.1_Missense_Mutation_p.D166H NM_005983.3 NP_005974.2 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2, E3 ubiquitin protein ligase 373 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding breast(1)|central_nervous_system(2)|ovary(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AATCGTGCCAGATGGTACCCT 0.403000 65 159 0 0 0.014410 0 0 MCM4 4173 broad.mit.edu 37 8 48883280 48883280 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:48883280G>A ENST00000262105.2 + 11 1853 c.1644G>A c.(1642-1644)atG>atA p.M548I MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.M548I NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 548 MCM. 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|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CGTACGTAATGAAAGACCCTG 0.552000 14 41 0 0 0.001855 0 0 NIPAL2 79815 broad.mit.edu 37 8 99215352 99215352 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:99215352G>C ENST00000341166.3 - 8 1119 c.864C>G c.(862-864)atC>atG p.I288M NIPAL2_ENST00000430223.2_Missense_Mutation_p.I288M|NIPAL2_ENST00000520545.1_5'UTR NM_024759.1 NP_079035.1 Q9H841 NPAL2_HUMAN NIPA-like domain containing 2 288 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 TGATGGCACTGATTGTAAAGA 0.398000 23 38 0 0 0.014323 0 0 VWF 7450 broad.mit.edu 37 12 6103365 6103365 + Silent SNP G G T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr12:6103365G>T ENST00000261405.5 - 37 6515 c.6261C>A c.(6259-6261)atC>atA p.I2087I NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2087 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCTCATCACAGATCCCTAGAG 0.478000 14 42 2.61681e-11 2.76734e-11 0.002450 1 0 ESRRA 2101 broad.mit.edu 37 11 64082296 64082296 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:64082296G>A ENST00000405666.1 + 5 889 c.655G>A c.(655-657)Gat>Aat p.D219N ESRRA_ENST00000406310.1_Missense_Mutation_p.D218N|ESRRA_ENST00000000442.6_Missense_Mutation_p.D219N P11474 ERR1_HUMAN estrogen-related receptor alpha 219 Ligand binding domain. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(4)|lung(8) 14 CGCAGGCCCTGATGGGCACCT 0.587000 12 59 0 0 0.013537 0 0 EPHA5 2044 broad.mit.edu 37 4 66217204 66217204 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:66217204C>T ENST00000273854.3 - 14 3011 c.2411G>A c.(2410-2412)aGa>aAa p.R804K EPHA5_ENST00000354839.4_Missense_Mutation_p.R782K|EPHA5_ENST00000511294.1_Missense_Mutation_p.R805K|EPHA5_ENST00000432638.2_Missense_Mutation_p.R641K NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 804 Protein kinase. 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 TAAGATGTTTCTGGCAGCAAG 0.473000 TSP Lung(17;0.13) 18 65 0 0 0.006122 0 0 FKBP15 23307 broad.mit.edu 37 9 115952852 115952852 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:115952852C>T ENST00000238256.3 - 12 1189 c.1072G>A c.(1072-1074)Gat>Aat p.D358N NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 358 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TTGACTGCATCGGGACTCTAA 0.458000 5 6 0 0 0.000602 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950434 2950434 + Missense_Mutation SNP G G C TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr11:2950434G>C ENST00000314222.4 - 1 251 c.161C>G c.(160-162)tCc>tGc p.S54C NM_003311.3 NP_003302.1 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain, family A, member 2 54 PH. apoptosis cytoplasm|membrane central_nervous_system(1) 1 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CTTGAGGATGGAGTGGAAGCG 0.657000 8 45 0 0 0.006214 0 0 YWHAZ 7534 broad.mit.edu 37 8 101936232 101936232 + Missense_Mutation SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:101936232G>A ENST00000395957.2 - 6 970 c.629C>T c.(628-630)tCa>tTa p.S210L YWHAZ_ENST00000395958.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000419477.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000395956.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000395951.3_Missense_Mutation_p.S210L|YWHAZ_ENST00000457309.1_Missense_Mutation_p.S210L|YWHAZ_ENST00000395948.2_Missense_Mutation_p.S133L|YWHAZ_ENST00000395953.2_Missense_Mutation_p.S210L|YWHAZ_ENST00000521309.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000522542.1_Missense_Mutation_p.S135L|YWHAZ_ENST00000522819.1_Missense_Mutation_p.S90L|YWHAZ_ENST00000353245.3_Missense_Mutation_p.S210L P63104 1433Z_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 210 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding large_intestine(1)|lung(2) 3 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) GTCTTTGTATGACTCTTCACT 0.343000 42 159 0 0 0.014410 0 0 LRRC8A 56262 broad.mit.edu 37 9 131671590 131671590 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr9:131671590C>T ENST00000259324.5 + 3 2670 c.2147C>T c.(2146-2148)aCg>aTg p.T716M LRRC8A_ENST00000372599.3_Missense_Mutation_p.T716M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T716M NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 716 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CTAGCCATCACGGCCAACCGG 0.667000 29 71 0 0 0.009535 0 0 RBM12B 389677 broad.mit.edu 37 8 94746326 94746326 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:94746326G>A ENST00000399300.2 - 3 2526 c.2313C>T c.(2311-2313)ttC>ttT p.F771F RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.F651F NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 771 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GCGGGCGCCTGAAATGCTCTG 0.662000 25 88 0 0 0.006320 0 0 TRAPPC2L 51693 broad.mit.edu 37 16 88925146 88925146 + Nonsense_Mutation SNP C C A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr16:88925146C>A ENST00000561840.1 + 2 113 c.35C>A c.(34-36)tCg>tAg p.S12* TRAPPC2L_ENST00000301021.3_Silent_p.V51V|TRAPPC2L_ENST00000567312.1_Silent_p.V51V|TRAPPC2L_ENST00000568583.1_Silent_p.V51V|TRAPPC2L_ENST00000565504.1_Silent_p.V51V|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000567895.1_Silent_p.V21V Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 0 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) AGGCCCTGGTCGACCAGAGGG 0.577000 15 51 0.00316338 0.00321722 0.003163 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119504 38119504 + Missense_Mutation SNP C C T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr22:38119504C>T ENST00000406386.3 + 7 1196 c.941C>T c.(940-942)tCc>tTc p.S314F RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 314 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AGGGCCTCATCCACCCAAGAG 0.607000 62 159 0 0 0.014410 0 0 RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 5 6 --- --- --- --- COL25A1 84570 broad.mit.edu 37 4 109780855 109780856 + Frame_Shift_Ins INS - - TGGC TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr4:109780855_109780856insTGGC ENST00000399132.1 - 24 1806_1807 c.1276_1277insGCCA c.(1276-1278)tgafs p.*426fs COL25A1_ENST00000399126.1_Frame_Shift_Ins_p.*426fs|COL25A1_ENST00000399127.1_Frame_Shift_Ins_p.*407fs NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 426 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) TATGATCTCAGTGGCTCCTTGA 0.510 11 70 --- --- --- --- GTF2IRD1P1 729156 broad.mit.edu 37 7 66304730 66304731 + RNA INS - - T TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr7:66304730_66304731insT ENST00000457166.1 - 0 189 NR_003934.1 TTTTCTTTCCCttttttttttt 0.510 4 4 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22021060 22021061 + Frame_Shift_Del DEL GT GT - TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:22021060_22021061delGT ENST00000522109.1 + 4 460_461 c.436_437delGT c.(436-438)gfs p.V146fs SFTPC_ENST00000524255.1_Splice_Site|SFTPC_ENST00000318561.3_Splice_Site|SFTPC_ENST00000437090.2_Splice_Site|SFTPC_ENST00000521315.1_Splice_Site|SFTPC_ENST00000520605.1_Splice_Site P11686 PSPC_HUMAN surfactant protein C 146 BRICHOS. respiratory gaseous exchange extracellular space p.M146fs*41(1) autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CAACTTCCAGGTGTGTGTGTGT 0.545 7 55 --- --- --- --- COL14A1 7373 broad.mit.edu 37 8 121180418 121180418 + Frame_Shift_Del DEL G G - TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr8:121180418delG ENST00000297848.3 + 5 638 c.368delG c.(367-369)aafs p.R123fs COL14A1_ENST00000537875.1_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Frame_Shift_Del_p.R123fs|COL14A1_ENST00000309791.4_Frame_Shift_Del_p.R123fs NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 123 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTAGAAAAAAGAAAGGATCCA 0.353 69 124 --- --- --- --- KTN1-AS1 100129075 broad.mit.edu 37 14 56014174 56014174 + RNA DEL G G - rs72015246 TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr14:56014174delG ENST00000554558.1 - 0 364 aaaaaaaaaagaaTTGGCACA 0.443 6 10 --- --- --- --- KIAA1199 57214 broad.mit.edu 37 15 81171075 81171075 + Frame_Shift_Del DEL C C - TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr15:81171075delC ENST00000394685.3 + 4 527 c.108delC c.(106-108)tgfs p.C36fs KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.C36fs|KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.C36fs Q8WUJ3 K1199_HUMAN KIAA1199 36 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CTGCTGGGTGCCCTGACCAGA 0.582 11 77 --- --- --- --- RP11-161I6.2 0 broad.mit.edu 37 18 2089465 2089466 + RNA DEL CA CA - rs150342638 by1000genomes TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr18:2089465_2089466delCA ENST00000579097.1 - 0 310 ACTGCCCCCCCACCCACTCACC 0.525 3 4 --- --- --- --- FRG1BP 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18da68fd-3bfb-45a3-ba28-4c90555b4e68 83d66369-f76e-42bf-b953-24b4f2b2d2e9 g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 9 165 --- --- --- ---