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 PRAMEF10 343071 broad.mit.edu 37 1 12955489 12955489 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:12955489G>A uc001auo.3 - 1 263 c.190C>T c.(190-192)Ctc>Ttc p.L64F NM_001039361 NP_001034450 O60809 PRA10_HUMAN Homo sapiens PRAME family member 10 (PRAMEF10), mRNA. 64 NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCAGAGGGAGGCTGAGGAAG 0.587 CASP9 842 broad.mit.edu 37 1 15844698 15844698 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:15844698C>A uc001awn.3 - 1 570 c.325G>T c.(325-327)Gtg>Ttg p.V109L CASP9_uc001awm.2_Missense_Mutation_p.V109L|CASP9_uc001awo.3_Missense_Mutation_p.V109L|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Missense_Mutation_p.V26L NM_001229 NP_127463 P55211 CASP9_HUMAN Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA. 109 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CTGAGCACCACTGGGGTAAGG 0.517 MST1P9 11223 broad.mit.edu 37 1 17085042 17085042 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:17085042C>T uc010ock.2 - 10 1433 c.1433G>A c.(1432-1434)cGg>cAg p.R478Q CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R52Q Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 CTGATCCAGCCGATCCACCCT 0.607 MYOM3 127294 broad.mit.edu 37 1 24409117 24409117 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:24409117G>A uc001bin.4 - 16 2221 c.2058C>T c.(2056-2058)gcC>gcT p.A686A MYOM3_uc001bim.4_Silent_p.A343A|MYOM3_uc001bio.3_Silent_p.A686A|MYOM3_uc001bip.1_3'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN Homo sapiens myomesin family, member 3 (MYOM3), mRNA. 686 Fibronectin type-III 3. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCTCGGTGGCGGCTGAGCTCT 0.622 C8B 732 broad.mit.edu 37 1 57425758 57425758 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:57425758G>A uc001cyp.3 - 1 251 c.184C>T c.(184-186)Ccc>Tcc p.P62S C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.P10S NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 62 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CAATCAATGGGCATCAGGGTA 0.498 DEPDC1 55635 broad.mit.edu 37 1 68948414 68948414 + Silent SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:68948414T>C uc001dem.4 - 7 1194 c.1077A>G c.(1075-1077)tcA>tcG p.S359S DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA. 359 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding p.T358T(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) CAGTAGAATCTGATTCTTCTT 0.343 MAGI3 260425 broad.mit.edu 37 1 114225544 114225544 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:114225544G>A uc001edk.3 + 20 3535 c.3354G>A c.(3352-3354)tcG>tcA p.S1118S MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 1143 PDZ 6. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding p.S1118S(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAATCCTTCGTCTTCAAATG 0.318 AQP10 89872 broad.mit.edu 37 1 154296100 154296100 + Missense_Mutation SNP G G C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:154296100G>C uc001feu.3 + 4 565 c.525G>C c.(523-525)ttG>ttC p.L175F ATP8B2_uc001few.3_5'Flank NM_080429 NP_536354 Q96PS8 AQP10_HUMAN Homo sapiens aquaporin 10 (AQP10), mRNA. 175 response to toxin|transmembrane transport|water transport integral to membrane|plasma membrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1) 23 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGGGGCTCTTGGCCATCCTGG 0.607 MPZL1 9019 broad.mit.edu 37 1 167734984 167734984 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:167734984T>G uc001geo.3 + 1 458 c.256T>G c.(256-258)Tcg>Gcg p.S86A MPZL1_uc001gen.4_Missense_Mutation_p.S86A|MPZL1_uc001gep.3_Missense_Mutation_p.S86A|MPZL1_uc001geq.3_Missense_Mutation_p.S86A|MPZL1_uc009wvh.3_Non-coding_Transcript NM_003953 NP_003944 O95297 MPZL1_HUMAN Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA. 86 Ig-like V-type. cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) CACTACTGTGTCGGTAAGAAT 0.483 JMJD4 65094 broad.mit.edu 37 1 227922480 227922480 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr1:227922480C>A uc001hrb.3 - 1 438 c.438G>T c.(436-438)caG>caT p.Q146H SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.3_Missense_Mutation_p.Q146H NM_023007 NP_075383 Q9H9V9 JMJD4_HUMAN Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA. 146 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) AGTTGTATTCCTGGACCCCAC 0.552 ITGA8 8516 broad.mit.edu 37 10 15701007 15701007 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:15701007C>T uc001ioc.1 - 9 939 c.939G>A c.(937-939)acG>acA p.T313T ITGA8_uc010qcb.1_Silent_p.T298T NM_003638 NP_003629 P53708 ITA8_HUMAN Homo sapiens integrin, alpha 8 (ITGA8), mRNA. 313 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CCTGTTCTCCCGTGAAATTCT 0.328 PTCHD3 374308 broad.mit.edu 37 10 27702997 27702997 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:27702997C>T uc001itu.2 - 0 301 c.183G>A c.(181-183)gcG>gcA p.A61A NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 61 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CCTGCTCCGACGCCAGGGGTC 0.687 PTEN 5728 broad.mit.edu 37 10 89717691 89717691 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:89717691T>G uc001kfb.3 + 6 1748 c.716T>G c.(715-717)aTg>aGg p.M239R PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 239 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K237_Y240>N(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.F238L(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GACAAGTTCATGTACTTTGAG 0.413 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) NFKB2 4791 broad.mit.edu 37 10 104156679 104156679 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr10:104156679C>T uc001kvb.3 + 5 527 c.262C>T c.(262-264)Cca>Tca p.P88S NFKB2_uc001kva.3_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.3_Missense_Mutation_p.P88S|NFKB2_uc009xxc.3_Missense_Mutation_p.P88S NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA. 88 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CTACGAGGGACCAGCCAAGAT 0.602 T IGH@ B-NHL LRRC56 115399 broad.mit.edu 37 11 554078 554078 + Silent SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:554078T>C uc010qvz.2 + 13 1936 c.1431T>C c.(1429-1431)cgT>cgC p.R477R NM_198075 NP_932341 Q8IYG6 LRC56_HUMAN Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA. 477 kidney(1)|lung(4)|skin(1) 6 all_cancers(49;2.16e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCAGGGGGCGTCGGCTCCGAG 0.697 WEE1 7465 broad.mit.edu 37 11 9608358 9608358 + Missense_Mutation SNP G G C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:9608358G>C uc001mhs.3 + 9 1995 c.1742G>C c.(1741-1743)cGa>cCa p.R581P WEE1_uc001mht.3_Missense_Mutation_p.R367P NM_003390 NP_001137448 P30291 WEE1_HUMAN Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA. 581 blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity p.L580F(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) GAACAATTACGAATAGAATTG 0.348 CHRM4 1132 broad.mit.edu 37 11 46407321 46407321 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:46407321C>T uc001nct.1 - 0 787 c.787G>A c.(787-789)Gcc>Acc p.A263T NM_000741 NP_000732 P08173 ACM4_HUMAN Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA. 263 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) TCCTCCCGGGCGGCCTCCCCG 0.682 OR8H3 390152 broad.mit.edu 37 11 55890095 55890095 + Missense_Mutation SNP T T A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:55890095T>A uc001nii.1 + 0 247 c.247T>A c.(247-249)Tta>Ata p.L83I NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ACCTAAAACCTTAGCGAACTT 0.438 OR5M11 219487 broad.mit.edu 37 11 56310099 56310099 + Missense_Mutation SNP A A T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:56310099A>T uc010rjl.2 - 0 635 c.635T>A c.(634-636)aTc>aAc p.I212N OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 CACCAAGACGATGGTGAGGGA 0.502 AHNAK 79026 broad.mit.edu 37 11 62297453 62297453 + Missense_Mutation SNP T T A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:62297453T>A uc001ntl.3 - 4 4736 c.4436A>T c.(4435-4437)gAg>gTg p.E1479V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 1479 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) AGCTTTTATCTCTCCTTCTAC 0.418 PLCB3 5331 broad.mit.edu 37 11 64024115 64024115 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:64024115C>T uc009ypi.3 + 9 1018 c.891C>T c.(889-891)agC>agT p.S297S PLCB3_uc009ypg.2_Silent_p.S297S|PLCB3_uc009yph.2_Silent_p.S230S NM_000932 NP_000923 Q01970 PLCB3_HUMAN Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA. 297 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 AGGGCTTTAGCCGCTACCTGG 0.632 ATG2A 23130 broad.mit.edu 37 11 64668368 64668368 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:64668368T>G uc001obx.3 - 29 4431 c.4316A>C c.(4315-4317)cAc>cCc p.H1439P ATG2A_uc001obw.3_Missense_Mutation_p.H204P NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 1439 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 GTGGCCGGGGTGGGGGCCAAA 0.657 TMPRSS4 56649 broad.mit.edu 37 11 117975409 117975409 + Missense_Mutation SNP G G A rs140457645 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:117975409G>A uc021qrd.1 + 4 605 c.314G>A c.(313-315)cGc>cAc p.R105H TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.R105H|TMPRSS4_uc010rxo.2_Missense_Mutation_p.R103H|TMPRSS4_uc010rxs.2_Missense_Mutation_p.R65H|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.R80H|TMPRSS4_uc010rxt.2_Missense_Mutation_p.R80H NM_019894 NP_063947 Q9NRS4 TMPS4_HUMAN Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA. 105 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CTCCCAGTCCGCCTCTCCAAG 0.587 C11orf63 79864 broad.mit.edu 37 11 122775064 122775064 + Missense_Mutation SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr11:122775064A>G uc001pym.3 + 2 1073 c.776A>G c.(775-777)aAc>aGc p.N259S C11orf63_uc001pyl.1_Missense_Mutation_p.N259S NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 259 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GTGGAAAAAAACAAGCTCACT 0.463 NR4A1 3164 broad.mit.edu 37 12 52451228 52451228 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:52451228G>A uc001rzs.3 + 6 1773 c.1454G>A c.(1453-1455)aGt>aAt p.S485N NR4A1_uc010sno.2_Missense_Mutation_p.S498N|NR4A1_uc001rzt.3_Missense_Mutation_p.S485N|NR4A1_uc009zmc.3_Missense_Mutation_p.V99I NM_002135 NP_775180 P22736 NR4A1_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA. 485 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) TGGATTGACAGTATCCTGGCC 0.612 AGAP2 116986 broad.mit.edu 37 12 58124715 58124715 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:58124715C>A uc001spq.3 - 10 2167 c.2167G>T c.(2167-2169)Ggc>Tgc p.G723C AGAP2_uc001spp.3_Missense_Mutation_p.G723C|AGAP2_uc001spr.3_Missense_Mutation_p.G387C NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA. 723 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 ATCTCCTTGCCGTGGGTACTG 0.582 TDG 6996 broad.mit.edu 37 12 104377129 104377129 + Missense_Mutation SNP T T A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:104377129T>A uc001tkg.3 + 6 977 c.754T>A c.(754-756)Ttt>Att p.F252I TDG_uc009zuk.3_Missense_Mutation_p.F248I|TDG_uc010swi.2_Missense_Mutation_p.F109I|TDG_uc010swj.2_Missense_Mutation_p.F40I NM_003211 NP_003202 Q13569 TDG_HUMAN Homo sapiens thymine-DNA glycosylase (TDG), mRNA. 252 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) GAACTTGGAATTTGGGCTTCA 0.299 Base excision repair (BER), DNA glycosylases BTBD11 121551 broad.mit.edu 37 12 108010913 108010913 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:108010913C>T uc001tmk.1 + 7 2570 c.2049C>T c.(2047-2049)ggC>ggT p.G683G BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.3_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G NM_001018072 NP_001018082 A6QL63 BTBDB_HUMAN Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA. 683 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGGAGCATGGCGAGGAGAACT 0.612 KSR2 283455 broad.mit.edu 37 12 117993076 117993076 + Silent SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:117993076T>C uc001two.2 - 8 1384 c.1329A>G c.(1327-1329)acA>acG p.T443T NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA. 472 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAACGGACTCTGTCCGGACTA 0.478 DIABLO 56616 broad.mit.edu 37 12 122702873 122702873 + Silent SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:122702873G>T uc010tab.2 - 3 1060 c.255C>A c.(253-255)acC>acA p.T85T DIABLO_uc010taa.2_Silent_p.T32T|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript NM_019887 NP_063940 Q9NR28 DBLOH_HUMAN Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 85 Missing (in Ref. 2; BAB71568). activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 7 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) GAAAGGTAGAGGTGCTATCTG 0.403 KNTC1 9735 broad.mit.edu 37 12 123014673 123014673 + Silent SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:123014673T>G uc001ucv.3 + 1 226 c.63T>G c.(61-63)ggT>ggG p.G21G KNTC1_uc010taf.2_Silent_p.G21G NM_014708 NP_055523 P50748 KNTC1_HUMAN Homo sapiens kinetochore associated 1 (KNTC1), mRNA. 21 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) TGAGTGTCGGTTCAAGAAAAG 0.403 GPR133 283383 broad.mit.edu 37 12 131593382 131593382 + Silent SNP G G A rs60880996 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr12:131593382G>A uc010tbm.2 + 18 2656 c.2097G>A c.(2095-2097)tcG>tcA p.S699S GPR133_uc001uit.4_Silent_p.S667S|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.3_Non-coding_Transcript NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 667 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.S667S(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCTTTGGGTCGGAGGACAGCA 0.607 BIVM-ERCC5 2073 broad.mit.edu 37 13 103514821 103514821 + Missense_Mutation SNP C C T rs112825485 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr13:103514821C>T uc001vpu.2 + 15 2806 c.2684C>T c.(2683-2685)cCg>cTg p.P895L BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.P441L|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.P441L|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Missense_Mutation_p.P273L NM_001204425 NP_001191354 Q59FZ7 Q59FZ7_HUMAN Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA. 866 nucleotide-excision repair nucleus endonuclease activity|single-stranded DNA binding AAAGGAATACCGTTTACTGCA 0.493 MYH7 4625 broad.mit.edu 37 14 23889445 23889446 + Splice_Site INS - - G rs45504498 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:23889445_23889446insG uc001wjx.3 - 27 3443 c.3337_splice c.e27-1 p.A1113_splice MIR208B_uc021rqy.1_5'Flank NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1113 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) GATGCGTGCCTGGTCAGACACA 0.629 MYH7 4625 broad.mit.edu 37 14 23898235 23898235 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:23898235T>G uc001wjx.3 - 13 1442 c.1336A>C c.(1336-1338)Acc>Ccc p.T446P NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 446 Myosin head-like. 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 p.T446T(1) 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) GTCTCCAGGGTGGCATTGATG 0.567 FSCB 84075 broad.mit.edu 37 14 44975414 44975414 + Silent SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:44975414A>G uc001wvn.3 - 0 1086 c.777T>C c.(775-777)ccT>ccC p.P259P NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 259 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) CTGTTGATGGAGGCTCTATTT 0.458 SYT16 83851 broad.mit.edu 37 14 62541877 62541877 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:62541877G>A uc001xfu.1 + 2 958 c.761G>A c.(760-762)cGt>cAt p.R254H SYT16_uc010tsd.1_Missense_Mutation_p.R254H NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 254 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AGCCAACGGCGTTATTCTGAG 0.428 MAP3K9 4293 broad.mit.edu 37 14 71216774 71216774 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr14:71216774C>A uc001xmm.3 - 3 1026 c.1026G>T c.(1024-1026)ttG>ttT p.L342F MAP3K9_uc010ttk.2_Missense_Mutation_p.L79F|MAP3K9_uc001xmk.3_Missense_Mutation_p.L36F|MAP3K9_uc001xml.3_Missense_Mutation_p.L342F NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 342 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CACCAGTCAGCAACTCCCAAA 0.488 CACNA1H 8912 broad.mit.edu 37 16 1270781 1270781 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:1270781C>T uc002cks.3 + 34 7097 c.6849C>T c.(6847-6849)gaC>gaT p.D2283D CACNA1H_uc002ckt.3_Silent_p.D2277D|CACNA1H_uc002cku.3_Silent_p.D978D|CACNA1H_uc010brj.3_Silent_p.D994D|CACNA1H_uc002ckv.3_Silent_p.D972D NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 2283 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CTTTCTTGGACGGTAGCCACA 0.652 ZNF263 10127 broad.mit.edu 37 16 3339529 3339529 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:3339529G>A uc002cuq.3 + 5 1355 c.1023G>A c.(1021-1023)tcG>tcA p.S341S ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR NM_005741 NP_005732 O14978 ZN263_HUMAN Homo sapiens zinc finger protein 263 (ZNF263), mRNA. 341 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 ATGACCGGTCGCAAGGGGATT 0.632 IQCK 124152 broad.mit.edu 37 16 19729740 19729740 + Missense_Mutation SNP G G C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:19729740G>C uc002dgr.3 + 1 811 c.112G>C c.(112-114)Gag>Cag p.E38Q IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.E38Q|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank NM_153208 NP_694940 Q8N0W5 IQCK_HUMAN Homo sapiens IQ motif containing K (IQCK), mRNA. 38 kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 CGCGTCCCGCGAGCTGCCTGT 0.652 MVP 9961 broad.mit.edu 37 16 29855978 29855978 + Missense_Mutation SNP G G A rs148167046 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:29855978G>A uc002dui.3 + 10 1951 c.1799G>A c.(1798-1800)cGc>cAc p.R600H BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R600H|MVP_uc010vea.2_Missense_Mutation_p.R194H NM_005115 NP_059447 Q14764 MVP_HUMAN Homo sapiens major vault protein (MVP), transcript variant 2, mRNA. 600 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding p.R600L(2) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CGCATCATTCGCACTGCTGTC 0.617 PRSS36 146547 broad.mit.edu 37 16 31151818 31151818 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:31151818T>C uc002ebd.3 - 12 2221 c.2162A>G c.(2161-2163)gAc>gGc p.D721G PRSS36_uc010vff.2_Missense_Mutation_p.D496G|PRSS36_uc010vfg.2_Missense_Mutation_p.D716G|PRSS36_uc010vfh.2_Intron NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN Homo sapiens protease, serine, 36 (PRSS36), mRNA. 721 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CTCACCTCGGTCCTGGGGTTC 0.667 RPGRIP1L 23322 broad.mit.edu 37 16 53686572 53686572 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:53686572T>C uc002ehp.3 - 14 2091 c.2027A>G c.(2026-2028)aAt>aGt p.N676S RPGRIP1L_uc002eho.4_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S NM_015272 NP_056087 Q68CZ1 FTM_HUMAN Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA. 676 C2 1. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GGTGATAGTATTCTTCTGAAT 0.378 NUDT21 11051 broad.mit.edu 37 16 56473612 56473612 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:56473612T>C uc002eja.3 - 3 575 c.428A>G c.(427-429)gAt>gGt p.D143G NM_007006 NP_008937 O43809 CPSF5_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA. 143 Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription centrosome|mRNA cleavage factor complex|paraspeckles AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4) 7 ACCAATGCAATCGTCAATGAC 0.408 TMEM208 29100 broad.mit.edu 37 16 67261781 67261781 + Missense_Mutation SNP G G C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:67261781G>C uc002esi.2 + 1 155 c.49G>C c.(49-51)Gaa>Caa p.E17Q LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript NM_014187 NP_054906 Q9BTX3 TM208_HUMAN Homo sapiens transmembrane protein 208 (TMEM208), mRNA. 17 integral to membrane breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GCAGATATTTGAAGAGAACAG 0.532 EDC4 23644 broad.mit.edu 37 16 67914753 67914753 + Silent SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:67914753A>G uc002eur.3 + 17 2630 c.2391A>G c.(2389-2391)ggA>ggG p.G797G EDC4_uc010cer.3_Silent_p.G416G|EDC4_uc002eus.3_Silent_p.G527G|EDC4_uc002eut.1_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA. 797 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GGCTTGATGGAGGCCCTGGGG 0.672 PLCG2 5336 broad.mit.edu 37 16 81942161 81942161 + Silent SNP C C T rs11548654 TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr16:81942161C>T uc002fgt.3 + 16 1876 c.1698C>T c.(1696-1698)agC>agT p.S566S PLCG2_uc010chg.1_Silent_p.S566S NM_002661 NP_002652 P16885 PLCG2_HUMAN Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA. 566 SH2 1. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 TTCGGGAGAGCGAGACCTTCC 0.592 DERL2 51009 broad.mit.edu 37 17 5383436 5383436 + Missense_Mutation SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:5383436G>T uc002gcc.1 - 5 565 c.552C>A c.(550-552)ttC>ttA p.F184L NM_016041 NP_057125 Q9GZP9 DERL2_HUMAN Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA. 184 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane protein binding large_intestine(3) 3 CATCTTCCAAGAAAAAATATA 0.358 TP53 7157 broad.mit.edu 37 17 7577544 7577544 + Missense_Mutation SNP A A C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:7577544A>C uc002gim.2 - 6 931 c.737T>G c.(736-738)aTg>aGg p.M246R TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.3_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 246 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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(296)|p.G245D(99)|p.G245V(58)|p.G245C(51)|p.M246V(31)|p.M246I(24)|p.M246R(20)|p.M246T(17)|p.M246K(15)|p.G245R(10)|p.G245A(8)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(4)|p.G245G(3)|p.G245fs*2(3)|p.M246L(3)|p.G245N(2)|p.C238_M246delCNSSCMGGM(2)|p.M246fs*1(2)|p.G245fs*14(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*22(1)|p.M153T(1)|p.G245del(1)|p.G244_M246>V(1)|p.C242fs*98(1)|p.S241_G245delSCMGG(1)|p.G245fs*17(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) CCTCCGGTTCATGCCGCCCAT 0.572 111 """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) DNAH2 146754 broad.mit.edu 37 17 7640511 7640511 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:7640511C>T uc002giu.1 + 6 1119 c.1105C>T c.(1105-1107)Cgc>Tgc p.R369C DNAH2_uc002git.3_Missense_Mutation_p.R369C|DNAH2_uc010vuk.2_Missense_Mutation_p.R369C NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 369 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAGTCTCATCCGCATCATCTG 0.517 ALOX15B 247 broad.mit.edu 37 17 7943287 7943287 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:7943287G>A uc002gju.3 + 2 551 c.435G>A c.(433-435)cgG>cgA p.R145R ALOX15B_uc002gjv.3_Silent_p.R145R|ALOX15B_uc002gjw.3_Silent_p.R145R|ALOX15B_uc010vun.2_Silent_p.R145R|ALOX15B_uc010cnp.3_5'UTR NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 145 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 TTCAGGCCCGGCAGGAGATGT 0.607 GLP2R 9340 broad.mit.edu 37 17 9737155 9737155 + Missense_Mutation SNP G G A rs147858947 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:9737155G>A uc002gmd.1 + 1 221 c.221G>A c.(220-222)cGg>cAg p.R74Q GLP2R_uc010cog.1_Non-coding_Transcript NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 74 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GAAACGACTCGGAAGTGGGCT 0.483 MYH13 8735 broad.mit.edu 37 17 10243484 10243484 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr17:10243484T>C uc002gmk.1 - 17 2129 c.2039A>G c.(2038-2040)aAt>aGt p.N680S NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 680 Actin-binding (By similarity).|Myosin head-like. 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 CTTGGTCTCATTGGGAATCAG 0.423 CETN1 1068 broad.mit.edu 37 18 580606 580606 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr18:580606G>A uc002kko.1 + 0 238 c.198G>A c.(196-198)aaG>aaA p.K66K NM_004066 NP_004057 Q12798 CETN1_HUMAN Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA. 66 EF-hand 2. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 AACCCAGGAAGGAAGAGATGA 0.557 MYOM1 8736 broad.mit.edu 37 18 3126851 3126851 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr18:3126851G>A uc002klp.3 - 18 3173 c.2839C>T c.(2839-2841)Cgt>Tgt p.R947C MYOM1_uc002klq.3_Missense_Mutation_p.R851C NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 947 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle p.R947C(2) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATTGAGTCACGAAAACTTTCA 0.423 DSC2 1824 broad.mit.edu 37 18 28659892 28659892 + Missense_Mutation SNP T T A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr18:28659892T>A uc002kwl.4 - 10 2038 c.1584A>T c.(1582-1584)aaA>aaT p.K528N DSC2_uc002kwk.4_Missense_Mutation_p.K528N NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 528 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TTCTGAAAACTTTGATTGATC 0.343 TNFSF9 8744 broad.mit.edu 37 19 6531065 6531065 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:6531065C>T uc002mfh.2 + 0 56 c.18C>T c.(16-18)gaC>gaT p.D6D NM_003811 NP_003802 P41273 TNFL9_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA. 6 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 ACGCCTCTGACGCTTCACTGG 0.692 FBN3 84467 broad.mit.edu 37 19 8200953 8200953 + Missense_Mutation SNP C C G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:8200953C>G uc002mjf.3 - 11 1500 c.1483G>C c.(1483-1485)Gtc>Ctc p.V495L NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 495 EGF-like 5; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CCACCACTGACAATGCACTCG 0.612 WDR83 84292 broad.mit.edu 37 19 12779320 12779320 + Splice_Site SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:12779320A>G uc002mue.4 + 2 190 c.-155_splice c.e2-2 MAN2B1_uc010dyv.1_5'Flank|MAN2B1_uc002mub.2_5'Flank|WDR83_uc002muc.3_Splice_Site|WDR83OS_uc002mud.2_Intron|WDR83_uc010dyw.3_5'Flank NM_001099737 NP_115708 Q9BRX9 WDR83_HUMAN Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm breast(2)|large_intestine(1)|lung(1) 4 CTTGTTCTGTAGGGCAAGTCT 0.557 MYO9B 4650 broad.mit.edu 37 19 17308666 17308666 + Missense_Mutation SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:17308666A>G uc010eak.3 + 23 4265 c.4113_splice c.e23+1 p.Q1371_splice MYO9B_uc002nfi.3_Splice_Site_p.Q1371_splice|MYO9B_uc002nfj.1_Splice_Site_p.Q1371_splice|MYO9B_uc002nfl.1_5'Flank NM_004145 NP_004136 Q13459 MYO9B_HUMAN Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA. 1371 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GCCAAGGCTCAGGTAACAAca 0.557 ZFP30 22835 broad.mit.edu 37 19 38127033 38127033 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:38127033G>A uc002ogv.1 - 5 925 c.409C>T c.(409-411)Cct>Tct p.P137S ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGTAAGTAGGCATTTTTTCA 0.408 CEACAM4 1089 broad.mit.edu 37 19 42133314 42133314 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:42133314G>A uc010xwd.1 - 0 129 c.18C>T c.(16-18)gcC>gcT p.A6A CEACAM4_uc002orh.1_Silent_p.A6A NM_001817 NP_001808 O75871 CEAM4_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA. 6 integral to plasma membrane|membrane fraction p.S5fs*15(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CACGGGGAGCGGCTGAGGGGG 0.652 CLPTM1 1209 broad.mit.edu 37 19 45476426 45476426 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:45476426C>T uc002pai.3 + 2 322 c.268C>T c.(268-270)Cgc>Tgc p.R90C CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Missense_Mutation_p.R76C NM_001294 NP_001285 O96005 CLPT1_HUMAN Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA. 90 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane p.R90C(3) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) AGGAGCTCCACGCGTCGCCAG 0.627 LILRA5 353514 broad.mit.edu 37 19 54823150 54823150 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:54823150C>T uc002qfe.3 - 3 513 c.393G>A c.(391-393)ctG>ctA p.L131L LILRA5_uc002qff.3_Silent_p.L119L|LILRA5_uc010yev.2_Silent_p.L131L|LILRA5_uc010yew.2_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L|LILRA5_uc002qfh.1_Silent_p.L119L NM_021250 NP_067073 A6NI73 LIRA5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA. 131 Ig-like C2-type 1. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCACCAGCTCCAGGGGGTCGC 0.622 NLRP13 126204 broad.mit.edu 37 19 56422072 56422072 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr19:56422072G>A uc010ygg.2 - 5 2164 c.2139C>T c.(2137-2139)caC>caT p.H713H NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 713 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGTTCCATGCGTGCATCCTGG 0.463 CAD 790 broad.mit.edu 37 2 27449783 27449783 + Missense_Mutation SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:27449783A>G uc002rji.3 + 14 2402 c.2240A>G c.(2239-2241)aAg>aGg p.K747R CAD_uc010eyw.3_Missense_Mutation_p.K684R NM_004341 NP_004332 P27708 PYR1_HUMAN Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA. 747 CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GACCTTAGCAAGTTCCTGCGA 0.562 DPP10 57628 broad.mit.edu 37 2 116548668 116548668 + Missense_Mutation SNP T T A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:116548668T>A uc002tle.3 + 17 1576 c.1555T>A c.(1555-1557)Ttg>Atg p.L519M DPP10_uc002tla.2_Missense_Mutation_p.L515M|DPP10_uc002tlb.2_Missense_Mutation_p.L465M|DPP10_uc002tlc.2_Missense_Mutation_p.L511M|DPP10_uc002tlf.2_Missense_Mutation_p.L508M NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 515 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATATTTTATATTGGAAAGCAA 0.328 YSK4 80122 broad.mit.edu 37 2 135744775 135744775 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:135744775G>A uc002tue.1 - 6 1698 c.1667C>T c.(1666-1668)aCt>aTt p.T556I YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T284I|YSK4_uc002tui.4_Missense_Mutation_p.T573I NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 556 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) GGGACCTTCAGTAGAAATCAC 0.428 FAP 2191 broad.mit.edu 37 2 163055364 163055365 + Missense_Mutation DNP GC GC AA TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:163055364_163055365GC>AA uc002ucd.3 - 15 1512_1513 c.1304_1305GC>TT c.(1303-1305)agc>aTT p.S435I FAP_uc010fpc.3_5'UTR|FAP_uc010zct.2_Missense_Mutation_p.S410I NM_004460 NP_004451 Q12884 SEPR_HUMAN Homo sapiens fibroblast activation protein, alpha (FAP), mRNA. 435 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.P434P(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CACACTTCTTGCTTGGAGGATA 0.371 TTN 7273 broad.mit.edu 37 2 179421857 179421857 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:179421857C>T uc021vsy.1 - 278 80545 c.80320G>A c.(80320-80322)Gtt>Att p.V26774I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V20469I|TTN_uc021vta.1_Missense_Mutation_p.V20402I|TTN_uc021vtb.1_Missense_Mutation_p.V20277I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27701 Ig-like 128. 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) GTGATACGAACATTTCTTGGG 0.403 TTN 7273 broad.mit.edu 37 2 179483569 179483569 + Missense_Mutation SNP T T A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:179483569T>A uc021vsy.1 - 199 39229 c.39004A>T c.(39004-39006)Atc>Ttc p.I13002F MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I6697F|TTN_uc021vta.1_Missense_Mutation_p.I6630F|TTN_uc021vtb.1_Missense_Mutation_p.I6505F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13929 Ig-like 86. 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) GCTGTCTTGATTTTTGGTGCA 0.408 TTN 7273 broad.mit.edu 37 2 179485012 179485012 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr2:179485012G>A uc021vsy.1 - 196 38757 c.38532C>T c.(38530-38532)tgC>tgT p.C12844C MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.C6539C|TTN_uc021vta.1_Silent_p.C6472C|TTN_uc021vtb.1_Silent_p.C6347C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 13771 Ig-like 85. 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) TGGAGAGCTGGCAGGAGAAGA 0.418 CPXM1 56265 broad.mit.edu 37 20 2776322 2776322 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:2776322C>T uc002wgu.3 - 10 1717 c.1643G>A c.(1642-1644)cGc>cAc p.R548H CPXM1_uc010gas.3_Intron NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA. 548 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GCAGGGTCGGCGGCTGGTGTC 0.622 ProSAPiP1 9762 broad.mit.edu 37 20 3146165 3146165 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:3146165C>T uc002wia.1 - 1 2699 c.1301G>A c.(1300-1302)cGg>cAg p.R434Q ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q NM_014731 NP_055546 O60299 PRIP1_HUMAN Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA. 434 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TTCCTCTATCCGGGGCAGGAA 0.662 CRLS1 54675 broad.mit.edu 37 20 5996124 5996124 + Missense_Mutation SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:5996124G>T uc002wmn.4 + 2 716 c.562G>T c.(562-564)Gat>Tat p.D188Y CRLS1_uc010gbq.3_Non-coding_Transcript|CRLS1_uc010gbr.3_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y NM_019095 NP_061968 Q9UJA2 CRLS1_HUMAN Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1, mRNA. 188 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphotransferase activity, for other substituted phosphate groups lung(3)|ovary(1) 4 GACCTATGCAGATCTTATTCC 0.383 SALL4 57167 broad.mit.edu 37 20 50401201 50401201 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr20:50401201G>A uc002xwh.4 - 3 2866 c.2765C>T c.(2764-2766)gCg>gTg p.A922V SALL4_uc010gii.3_Missense_Mutation_p.A485V|SALL4_uc002xwi.4_Missense_Mutation_p.A145V NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 922 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A922V(2)|p.G921W(1) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GTTATTGTTCGCCCCGTGTGT 0.468 LZTR1 8216 broad.mit.edu 37 22 21345975 21345975 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr22:21345975C>A uc002zto.3 + 8 953 c.850C>A c.(850-852)Cgc>Agc p.R284S LZTR1_uc002ztn.3_Missense_Mutation_p.R243S|LZTR1_uc011ahy.2_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S NM_006767 NP_006758 Q8N653 LZTR1_HUMAN Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA. 284 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CCCGCAGCGGCGCTACGGGCA 0.632 FGD5 152273 broad.mit.edu 37 3 14861995 14861995 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr3:14861995G>A uc003bzc.3 + 0 1527 c.1417G>A c.(1417-1419)Gcg>Acg p.A473T FGD5_uc011avk.2_Missense_Mutation_p.A473T NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 473 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCTGGTTCCCGCGGACAGGAA 0.642 ZBED2 79413 broad.mit.edu 37 3 111312849 111312849 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr3:111312849C>T uc003dxy.3 - 1 1101 c.200G>A c.(199-201)cGt>cAt p.R67H CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.R67H NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 67 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 GTGCCCAGCACGAGCAGGAGC 0.612 MFI2 4241 broad.mit.edu 37 3 196735736 196735736 + Silent SNP G G C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr3:196735736G>C uc003fxk.4 - 11 1740 c.1626C>G c.(1624-1626)cgC>cgG p.R542R NM_005929 NP_005920 P08582 TRFM_HUMAN Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA. 542 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CACACTTGTTGCGGCCCTGCT 0.642 ARAP2 116984 broad.mit.edu 37 4 36231022 36231022 + Missense_Mutation SNP C C G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:36231022C>G uc003gsq.2 - 1 425 c.87G>C c.(85-87)gaG>gaC p.E29D ARAP2_uc003gsr.1_Missense_Mutation_p.E29D NM_015230 NP_056045 Q8WZ64 ARAP2_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA. 29 SAM. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TAAAACCAGACTCATGGAAAT 0.393 RBM47 54502 broad.mit.edu 37 4 40440160 40440160 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:40440160G>A uc003gvc.2 - 3 1461 c.751C>T c.(751-753)Cgc>Tgc p.R251C RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 251 RRM 3. nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 ATGAGGTTGCGCACGTAGAGG 0.617 UBA6 55236 broad.mit.edu 37 4 68543331 68543331 + Missense_Mutation SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:68543331G>T uc003hdg.4 - 5 515 c.463C>A c.(463-465)Cag>Aag p.Q155K UBA6_uc003hdi.3_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K NM_018227 NP_060697 A0AVT1 UBA6_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA. 155 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 GTACTAACCTGGTATTTATCT 0.308 TMPRSS11E 28983 broad.mit.edu 37 4 69344650 69344650 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:69344650G>A uc003hdz.4 + 8 1115 c.1051G>A c.(1051-1053)Gcc>Acc p.A351T NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 351 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 TTACAATGACGCCATAACTCC 0.388 PTPN13 5783 broad.mit.edu 37 4 87671855 87671855 + Silent SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:87671855A>G uc003hpz.3 + 17 3363 c.2883A>G c.(2881-2883)gaA>gaG p.E961E PTPN13_uc003hpy.3_Silent_p.E961E|PTPN13_uc003hqa.3_Silent_p.E961E|PTPN13_uc003hqb.3_Intron NM_080683 NP_542414 Q12923 PTN13_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA. 961 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) CATGGGAGGAAAAGCCTAGAG 0.438 CCNA2 890 broad.mit.edu 37 4 122744710 122744710 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:122744710G>A uc003iec.4 - 0 379 c.74C>T c.(73-75)gCg>gTg p.A25V NM_001237 NP_001228 P20248 CCNA2_HUMAN Homo sapiens cyclin A2 (CCNA2), mRNA. 25 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 12 CTCTTGGAGCGCCGTCTGCTG 0.692 SMARCA5 8467 broad.mit.edu 37 4 144461639 144461639 + Missense_Mutation SNP A A T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:144461639A>T uc003ijg.3 + 13 2356 c.1894A>T c.(1894-1896)Att>Ttt p.I632F NM_003601 NP_003592 O60264 SMCA5_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA. 632 Helicase C-terminal. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) TTCAATAGTCATTCAACAAGG 0.363 C4orf45 152940 broad.mit.edu 37 4 159881481 159881481 + Missense_Mutation SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr4:159881481G>T uc003iqf.1 - 2 398 c.313C>A c.(313-315)Caa>Aaa p.Q105K C4orf45_uc010iqt.1_Intron NM_152543 NP_689756 Q96LM5 CD045_HUMAN Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA. 105 large_intestine(2)|lung(3) 5 AGAGAAGCTTGACTTAGTTCT 0.308 PLEKHG4B 153478 broad.mit.edu 37 5 140833 140833 + Splice_Site SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:140833T>G uc003jak.2 + 1 459 c.409_splice c.e1+2 p.D137_splice NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 137 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AAGAGGAAGGTAAATGCTCCC 0.642 CTNND2 1501 broad.mit.edu 37 5 11199757 11199757 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:11199757C>T uc003jfa.1 - 10 1923 c.1778G>A c.(1777-1779)gGc>gAc p.G593D CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 593 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GAGCTGGATGCCTCCTTGTCT 0.473 PTGER4 5734 broad.mit.edu 37 5 40681332 40681332 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:40681332G>A uc003jlz.3 + 1 829 c.237G>A c.(235-237)acG>acA p.T79T NM_000958 NP_000949 P35408 PE2R4_HUMAN Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA. 79 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CCATCGCCACGTACATGAAGG 0.607 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) THBS4 7060 broad.mit.edu 37 5 79373950 79373950 + Missense_Mutation SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:79373950A>G uc021yaw.1 + 16 2356 c.2165A>G c.(2164-2166)aAc>aGc p.N722S BC047373_uc003kgi.4_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN Homo sapiens thrombospondin 4 (THBS4), mRNA. 722 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TGCCCAGAGAACGCAGAGGTC 0.592 GPR98 84059 broad.mit.edu 37 5 90021005 90021005 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:90021005C>A uc003kju.3 + 46 10105 c.10009C>A c.(10009-10011)Ctt>Att p.L3337I GPR98_uc003kjt.3_Missense_Mutation_p.L1043I|GPR98_uc003kjv.3_Missense_Mutation_p.L937I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3337 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAAGCCTTCTCTTAACAGTGT 0.264 PCDHB1 29930 broad.mit.edu 37 5 140432384 140432384 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:140432384C>T uc003lik.1 + 0 1406 c.1329C>T c.(1327-1329)tcC>tcT p.S443S NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 443 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTAATATCCGACGTTAATG 0.448 FAM71B 153745 broad.mit.edu 37 5 156589852 156589852 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:156589852T>C uc003lwn.3 - 1 1524 c.1424A>G c.(1423-1425)aAc>aGc p.N475S NM_130899 NP_570969 Q8TC56 FA71B_HUMAN Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA. 475 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCTCTCGTGTTTTTATGGCC 0.527 GABRA6 2559 broad.mit.edu 37 5 161128598 161128598 + Missense_Mutation SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr5:161128598C>T uc003lyu.2 + 8 1519 c.1181C>T c.(1180-1182)gCg>gTg p.A394V GABRA6_uc003lyv.2_Missense_Mutation_p.A165V NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 394 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTCACGAGAGCGCCCATCTTA 0.473 TCGA Ovarian(5;0.080) MDC1 9656 broad.mit.edu 37 6 30675376 30675376 + Nonsense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:30675376C>A uc003nrg.4 - 7 3420 c.2980G>T c.(2980-2982)Gga>Tga p.G994* MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 994 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 ACTGGGGATCCCCTTCCACCT 0.637 Other conserved DNA damage response genes DST 667 broad.mit.edu 37 6 56476386 56476386 + Silent SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:56476386A>G uc003pcy.4 - 23 3564 c.3456T>C c.(3454-3456)agT>agC p.S1152S DST_uc021zax.1_Silent_p.S1152S NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 3556 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATATTTCCTCACTGGAAATCT 0.333 PTP4A1 7803 broad.mit.edu 37 6 64289185 64289185 + Missense_Mutation SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:64289185C>A uc003pek.3 + 6 1339 c.353C>A c.(352-354)gCa>gAa p.A118E PTP4A1_uc003pel.3_Missense_Mutation_p.A118E|PTP4A1_uc021zbm.1_Non-coding_Transcript NM_003463 NP_003454 Q93096 TP4A1_HUMAN Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA. 118 Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase. cell cycle|multicellular organismal development early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle protein binding|protein tyrosine phosphatase activity large_intestine(3)|lung(4)|skin(1) 8 all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175) Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13) GTTGCCCTAGCATTAATTGAA 0.328 CEP57L1 285753 broad.mit.edu 37 6 109480497 109480497 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:109480497T>C uc010kdk.3 + 10 1425 c.848T>C c.(847-849)aTc>aCc p.I283T CEP57L1_uc003psx.4_Missense_Mutation_p.I283T|CEP57L1_uc010kdl.3_Missense_Mutation_p.I283T|CEP57L1_uc003psy.4_Missense_Mutation_p.I283T NM_001083535 NP_776191 Q8IYX8 CE57L_HUMAN Homo sapiens centrosomal protein 57kDa-like 1 (CEP57L1), transcript variant 1, mRNA. 283 microtubule|microtubule organizing center endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1) 11 GACCCACATATCCTTCAGAAA 0.433 C6orf170 221322 broad.mit.edu 37 6 121433663 121433663 + Missense_Mutation SNP C C G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:121433663C>G uc003pyo.1 - 28 3380 c.3312G>C c.(3310-3312)agG>agC p.R1104S NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 1104 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) AAATATGTAGCCTTGGCAACC 0.338 GRM1 2911 broad.mit.edu 37 6 146708084 146708084 + Missense_Mutation SNP A A T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:146708084A>T uc010khw.1 + 6 2131 c.1661A>T c.(1660-1662)gAa>gTa p.E554V GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V NM_000838 NP_000829 Q13255 GRM1_HUMAN Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA. 554 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AAAGAGAATGAATATGTGCAA 0.438 PLEKHG1 57480 broad.mit.edu 37 6 151117039 151117039 + Splice_Site SNP G G T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:151117039G>T uc011eem.1 + 5 894 c.806_splice c.e5+1 p.R269_splice PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc003qny.1_Splice_Site_p.R210_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 210 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ACTATCCAAGGTATGGATCGA 0.403 SYNE1 23345 broad.mit.edu 37 6 152792795 152792795 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr6:152792795C>T uc021zhb.1 - 13 1792 c.1569G>A c.(1567-1569)ctG>ctA p.L523L SYNE1_uc003qot.4_Silent_p.L530L|SYNE1_uc003qou.4_Silent_p.L523L|SYNE1_uc010kjb.1_Silent_p.L506L|SYNE1_uc003qpa.1_Silent_p.L523L|SYNE1_uc003qox.1_Silent_p.L39L|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.L90L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 523 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.L523L(3)|p.L530L(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCAAGACTTCAGCTTTGACT 0.438 HNSCC(10;0.0054) SLC29A4 222962 broad.mit.edu 37 7 5330388 5330388 + Silent SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:5330388C>T uc003sod.3 + 2 356 c.195C>T c.(193-195)gaC>gaT p.D65D SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.D65D|SLC29A4_uc003soe.3_Silent_p.D65D NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA. 65 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity p.D64N(4) breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TGCCCGATGACCGTTATCACG 0.587 CPVL 54504 broad.mit.edu 37 7 29134756 29134756 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:29134756G>A uc003szv.3 - 4 525 c.406C>T c.(406-408)Cgt>Tgt p.R136C CPVL_uc003szw.3_Missense_Mutation_p.R136C|CPVL_uc003szx.3_Missense_Mutation_p.R136C NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA. 136 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TCTCTGTCACGCACTGTGAAA 0.547 RABGEF1 27342 broad.mit.edu 37 7 66270262 66270262 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:66270262T>C uc003tvf.3 + 11 1791 c.575T>C c.(574-576)cTc>cCc p.L192P RABGEF1_uc003tvg.3_Missense_Mutation_p.L127P|RABGEF1_uc003tvh.3_Missense_Mutation_p.L319P|RABGEF1_uc010lag.3_Missense_Mutation_p.L319P|RABGEF1_uc011kee.2_Missense_Mutation_p.L333P|RABGEF1_uc003tvi.3_Missense_Mutation_p.L153P NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA. 536 Interaction with ubiquitinated proteins. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1) 27 CTCCCCACCCTCATCTACATT 0.522 RBM48 84060 broad.mit.edu 37 7 92158936 92158936 + Silent SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:92158936T>C uc003uma.3 + 1 299 c.258T>C c.(256-258)ttT>ttC p.F86F PEX1_uc003uly.3_5'Flank|PEX1_uc011khr.2_5'Flank|PEX1_uc010ley.3_5'Flank|PEX1_uc011khs.2_5'Flank|RBM48_uc011khu.1_Silent_p.F86F|RBM48_uc003ulz.3_Silent_p.F86F Q5RL73 CG064_HUMAN Homo sapiens RNA binding motif protein 48 (RBM48), mRNA. 86 nucleotide binding CAGAAGACTTTACTGAAGTTT 0.353 HEPACAM2 253012 broad.mit.edu 37 7 92821587 92821587 + Silent SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:92821587G>A uc011khy.2 - 9 1457 c.1434C>T c.(1432-1434)gcC>gcT p.A478A HEPACAM2_uc003uml.3_Silent_p.A443A|HEPACAM2_uc010lff.3_Missense_Mutation_p.P435L|HEPACAM2_uc003umm.3_Silent_p.A455A NM_198151 NP_937794 A8MVW5 HECA2_HUMAN Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA. 455 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CTTGCTGCTGGGCAGGGATGT 0.453 CALCR 799 broad.mit.edu 37 7 93055835 93055835 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:93055835G>A uc003umv.2 - 15 1660 c.1360C>T c.(1360-1362)Cgc>Tgc p.R454C CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R420C|CALCR_uc003umw.2_Missense_Mutation_p.R420C NM_001164737 NP_001158209 P30988 CALCR_HUMAN Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA. 436 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TTGGAGGGGCGCCTCCCCCAA 0.557 ANKRD7 56311 broad.mit.edu 37 7 117864828 117864828 + Translation_Start_Site SNP C C T TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr7:117864828C>T uc003vji.3 + 0 NM_019644 NP_062618 Q92527 ANKR7_HUMAN Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA. male gonad development breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 GCAGGGCGGACGGCTAGGAGT 0.602 PLAT 5327 broad.mit.edu 37 8 42037449 42037449 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:42037449T>G uc003xos.2 - 11 1567 c.1358A>C c.(1357-1359)gAg>gCg p.E453A PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A NM_000930 NP_000921 P00750 TPA_HUMAN Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA. 453 Peptidase S1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTTACAGGCCTCATGCTTGCC 0.652 CYP7B1 9420 broad.mit.edu 37 8 65517238 65517238 + Splice_Site SNP C C A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:65517238C>A uc003xvj.2 - 5 1437 c.1233_splice c.e5+1 p.E411_splice NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 411 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) TGTTTACTTACCTCTGGAGCT 0.493 TRAPPC9 83696 broad.mit.edu 37 8 141461384 141461384 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:141461384T>C uc003yvh.2 - 1 398 c.383A>G c.(382-384)aAc>aGc p.N128S TRAPPC9_uc003yvj.2_Missense_Mutation_p.N30S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 30 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 CCTGAAGAAGTTCTCCTCGGA 0.567 ZNF696 79943 broad.mit.edu 37 8 144378380 144378380 + Missense_Mutation SNP A A G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:144378380A>G uc003yxy.4 + 2 944 c.535A>G c.(535-537)Agg>Ggg p.R179G NM_030895 NP_112157 Q9H7X3 ZN696_HUMAN Homo sapiens zinc finger protein 696 (ZNF696), mRNA. 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) CAGCGGGGAGAGGCCCTACGC 0.697 ARHGAP39 80728 broad.mit.edu 37 8 145806268 145806268 + Silent SNP C C G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr8:145806268C>G uc003zds.1 - 3 1029 c.474G>C c.(472-474)cgG>cgC p.R158R ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zdt.1_Silent_p.R158R NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 158 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 ACGCCGCGGGCCGCCCGGCCC 0.721 ARID3C 138715 broad.mit.edu 37 9 34623425 34623425 + Missense_Mutation SNP T T C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:34623425T>C uc011lon.2 - 3 862 c.862A>G c.(862-864)Aaa>Gaa p.K288E DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA. 288 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CTCGCACCTTTCTTAATAGGG 0.592 FAM75A6 389730 broad.mit.edu 37 9 43628658 43628658 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:43628658G>A uc011lrb.2 - 2 313 c.284C>T c.(283-285)tCg>tTg p.S95L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 95 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 AAGAAGGTCCGAAGTCTCCTC 0.612 SLC28A3 64078 broad.mit.edu 37 9 86928326 86928326 + Missense_Mutation SNP T T A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:86928326T>A uc010mpz.3 - 1 250 c.104A>T c.(103-105)aAc>aTc p.N35I SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.3_5'UTR NM_001199633 NP_001186562 Q9HAS3 S28A3_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA. 35 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 TCTTATTGAGTTGTTTCCTGA 0.418 ROR2 4920 broad.mit.edu 37 9 94487296 94487296 + Missense_Mutation SNP C C T rs138310082 byFrequency TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:94487296C>T uc004arj.2 - 8 1679 c.1480G>A c.(1480-1482)Ggc>Agc p.G494S ROR2_uc004ari.1_Missense_Mutation_p.G354S NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 494 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGGGCAGGGCCGAACAGGTGA 0.602 ZBTB34 403341 broad.mit.edu 37 9 129643102 129643102 + Missense_Mutation SNP T T G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:129643102T>G uc022bnn.1 + 0 1412 c.1412T>G c.(1411-1413)gTg>gGg p.V471G ZBTB34_uc004bqm.4_Missense_Mutation_p.V471G NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA. 471 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 GATGTGTACGTGGAACAGAAA 0.507 PRDM12 59335 broad.mit.edu 37 9 133556658 133556658 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chr9:133556658G>A uc004bzt.1 + 4 766 c.706G>A c.(706-708)Gcg>Acg p.A236T NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN Homo sapiens PR domain containing 12 (PRDM12), mRNA. 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GGCGGACTCGGCGGCTGGCCC 0.726 ESX1 80712 broad.mit.edu 37 X 103495282 103495282 + Missense_Mutation SNP G G A TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chrX:103495282G>A uc004ely.3 - 3 917 c.848C>T c.(847-849)gCg>gTg p.A283V NM_153448 NP_703149 Q8N693 ESX1_HUMAN Homo sapiens ESX homeobox 1 (ESX1), mRNA. 283 15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x. negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 TGGCACAGGCGCCATGCGTGA 0.726 GPC3 2719 broad.mit.edu 37 X 133087081 133087081 + Missense_Mutation SNP G G C TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chrX:133087081G>C uc010nrn.2 - 1 530 c.333C>G c.(331-333)ttC>ttG p.F111L GPC3_uc004exe.2_Missense_Mutation_p.F111L|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR NM_001164617 NP_001158089 P51654 GPC3_HUMAN Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA. 111 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) ACTCACCTTGGAAAACCGCAG 0.373 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome NLGN4Y 22829 broad.mit.edu 37 Y 16952864 16952864 + Missense_Mutation SNP C C G TCGA-32-4210-01A-01D-1353-08 TCGA-32-4210-10A-01D-1353-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9f405dbf-5cc8-4414-bcbd-84ae10749ff2 fd897db5-4c2a-4614-8dca-ae20cb627fd2 g.chrY:16952864C>G uc011nas.1 + 6 2412 c.2233C>G c.(2233-2235)Cag>Gag p.Q745E NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc004ftg.2_Missense_Mutation_p.Q725E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E NM_001206850 NP_001193779 Q8NFZ3 NLGNY_HUMAN Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA. 725 brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity large_intestine(3)|lung(7)|prostate(2)|skin(2) 14 CACTCACATCCAGAACGAAGA 0.547