Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ATP10B 23120 broad.mit.edu 37 5 160033839 160033839 + Silent SNP C C A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr5:160033839C>A ENST00000327245.5 - 19 3939 c.3093G>T c.(3091-3093)acG>acT p.T1031T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1031 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.T1031T(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGGAGTGGCGTGGAGCGGC 0.512000 27 99 8.24728e-16 9.85092e-16 0.681144 1 0 CEP170B 283638 broad.mit.edu 37 14 105361169 105361169 + Silent SNP A A C TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr14:105361169A>C ENST00000453495.1 + 19 4875 c.4647A>C c.(4645-4647)tcA>tcC p.S1549S CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000414716.3_Silent_p.S1513S centrosomal protein 170B p.S1513S(3)|p.S1479S(3)|p.S1478S(1) GCCCACCCTCACCCGCCTCAG 0.711000 7 19 0 0 0.435327 0 0 SPAG17 200162 broad.mit.edu 37 1 118554950 118554950 + Missense_Mutation SNP C C G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:118554950C>G ENST00000336338.5 - 30 4398 c.4333G>C c.(4333-4335)Gat>Cat p.D1445H NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1445 cilium|flagellar axoneme|microtubule p.D1445H(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CGAGTACCATCTTTCCTTTCA 0.393000 14 50 0 0 0.457914 0 0 SCML4 256380 broad.mit.edu 37 6 108042009 108042009 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr6:108042009G>A ENST00000369022.2 - 5 906 c.697C>T c.(697-699)Cgc>Tgc p.R233C SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369020.3_Missense_Mutation_p.R291C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C|SCML4_ENST00000479803.1_5'UTR Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R262C(1) endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GGGCTAGTGCGGGGACCACCA 0.637000 4 87 0 0 0.150653 0 0 PCSK5 5125 broad.mit.edu 37 9 78790082 78790082 + Missense_Mutation SNP G G T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr9:78790082G>T ENST00000376767.3 + 14 2449 c.1937G>T c.(1936-1938)aGg>aTg p.R646M PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCTAAAAAGAGGCAGCTCATG 0.483000 7 46 7.48243e-07 8.46696e-07 0.335167 1 0 PRRX1 5396 broad.mit.edu 37 1 170688957 170688957 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:170688957G>A ENST00000239461.6 + 2 645 c.332G>A c.(331-333)cGt>cAt p.R111H PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H|PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 111 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R111H(1) large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTTTGGAGCGTGTCTTTGAG 0.512000 20 61 0 0 0.592651 0 0 DNM1P47 0 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 4 26 0 0 0.150653 0 0 FAM174A 345757 broad.mit.edu 37 5 99871330 99871330 + Silent SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr5:99871330C>T ENST00000312637.4 + 1 322 c.96C>T c.(94-96)gtC>gtT p.V32V NM_198507.1 NP_940909.1 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 32 integral to membrane p.V32V(1) breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCCTGGCAGTCCTGCTGCAGG 0.672000 7 82 0 0 0.335167 0 0 PCDHA6 0 broad.mit.edu 37 5 140209661 140209661 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr5:140209661C>T ENST00000529310.1 + 1 2099 c.1985C>T c.(1984-1986)aCg>aTg p.T662M PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.T662M(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACAGCGACGGCCACGGTT 0.697000 23 69 0 0 0.624587 0 0 KNDC1 85442 broad.mit.edu 37 10 135012126 135012126 + Missense_Mutation SNP G G T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr10:135012126G>T ENST00000304613.3 + 14 2135 c.2114G>T c.(2113-2115)gGc>gTc p.G705V KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V|KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 705 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.G705V(2) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GAGAGGGGCGGCCAGAGGGAG 0.721000 3 20 1.23904e-05 1.36612e-05 0.184627 1 0 ST5 6764 broad.mit.edu 37 11 8729383 8729383 + Missense_Mutation SNP G G C TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr11:8729383G>C ENST00000534127.1 - 15 2756 c.2371C>G c.(2371-2373)Cgg>Ggg p.R791G ST5_ENST00000534278.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R263G|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|RPL27A_ENST00000531102.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 791 DENN. positive regulation of ERK1 and ERK2 cascade protein binding p.R791R(1)|p.R791G(1) NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TCTGGCAACCGGGGCCCTTTC 0.577000 3 20 0 0 0.115264 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 156 0 0 0.217242 0 0 ZNF689 115509 broad.mit.edu 37 16 30620889 30620889 + Silent SNP A A C TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr16:30620889A>C ENST00000287461.3 - 2 613 c.276T>G c.(274-276)gcT>gcG p.A92A ZNF689_ENST00000566673.1_5'UTR NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 92 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A92A(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) GCGGATCTAGAGCAGCCGGTT 0.547000 20 64 0 0 0.575678 0 0 RASGRF1 5923 broad.mit.edu 37 15 79382656 79382656 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr15:79382656G>A ENST00000419573.3 - 1 459 c.185C>T c.(184-186)cCc>cTc p.P62L RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 62 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.P62L(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAGCCCCGAGGGCCGCGAGCT 0.642000 16 47 0 0 0.479597 0 0 TRIB2 28951 broad.mit.edu 37 2 12863619 12863619 + Silent SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr2:12863619C>T ENST00000155926.4 + 2 1923 c.504C>T c.(502-504)gaC>gaT p.D168D TRIB2_ENST00000405331.3_Silent_p.D168D|TRIB2_ENST00000381465.2_Silent_p.D32D NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 168 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity p.D168D(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACTGCCATGACGGGGGGCTGG 0.577000 15 76 0 0 0.479597 0 0 CROCCP2 0 broad.mit.edu 37 1 16945780 16945780 + RNA SNP C C T rs139443204 by1000genomes TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:16945780C>T ENST00000412962.1 - 0 1739 ACAAGAATCCCGGACGTGGAT 0.567000 8 35 0 0 0.335167 0 0 THEG 51298 broad.mit.edu 37 19 375680 375680 + Silent SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr19:375680C>T ENST00000342640.4 - 1 333 c.291G>A c.(289-291)gaG>gaA p.E97E THEG_ENST00000346878.2_Silent_p.E97E NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 97 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding p.E97E(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGAATGTCCTCTTCCAAGT 0.657000 36 169 0 0 0.812448 0 0 PCDHGB3 0 broad.mit.edu 37 5 140751900 140751900 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr5:140751900C>T ENST00000576222.1 + 1 2070 c.1939C>T c.(1939-1941)Cgt>Tgt p.R647C PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCACTGTGCGTGATGGAGG 0.652000 14 89 0 0 0.479597 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073169 17073169 + Missense_Mutation SNP C C A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr22:17073169C>A ENST00000359963.3 - 1 531 c.272G>T c.(271-273)cGg>cTg p.R91L NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 91 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.R91L(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCCTGCTTCCCGGAGGAGCCA 0.602000 3 47 0.115264 0.118008 0.115264 1 0 LRRC47 57470 broad.mit.edu 37 1 3697704 3697704 + Missense_Mutation SNP G G C TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:3697704G>C ENST00000378251.1 - 7 1727 c.1700C>G c.(1699-1701)cCg>cGg p.P567R NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 567 translation phenylalanine-tRNA ligase activity|RNA binding p.P567R(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGCCTTGGACGGGTACACCAC 0.652000 17 69 0 0 0.539581 0 0 HTR5A 3361 broad.mit.edu 37 7 154862620 154862620 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr7:154862620C>T ENST00000287907.2 + 1 587 c.11C>T c.(10-12)cCt>cTt p.P4L AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 4 integral to plasma membrane serotonin receptor activity p.P4L(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ATGGATTTACCTGTGAACCTA 0.612000 27 133 0 0 0.706142 0 0 PLXNA2 5362 broad.mit.edu 37 1 208272307 208272307 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:208272307G>A ENST00000367033.3 - 6 2372 c.1615C>T c.(1615-1617)Cgc>Tgc p.R539C NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 539 axon guidance integral to membrane|intracellular|plasma membrane p.R539C(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTGTCCCTGCGGGAGCACCTG 0.562000 6 21 0 0 0.278610 0 0 MN1 4330 broad.mit.edu 37 22 28194936 28194936 + Silent SNP C C T rs45597040 TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr22:28194936C>T ENST00000302326.4 - 1 2550 c.1596G>A c.(1594-1596)caG>caA p.Q532Q NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 532 Poly-Gln. binding p.Q532Q(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 gctgctgttgctgctgctgct 0.652000 T ETV6 """AML, meningioma""" 3 12 0 0 0.115264 0 0 NRAP 4892 broad.mit.edu 37 10 115372082 115372082 + Missense_Mutation SNP C C A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr10:115372082C>A ENST00000369358.4 - 30 3677 c.3433G>T c.(3433-3435)Gac>Tac p.D1145Y NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1137 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding p.D1137Y(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGTTTGTAGTCCTGATTGCTG 0.542000 13 81 0.000151284 0.000162631 0.435327 1 0 CLK3 1198 broad.mit.edu 37 15 74917313 74917313 + Missense_Mutation SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr15:74917313A>G ENST00000395066.3 + 6 1509 c.1048A>G c.(1048-1050)Atc>Gtc p.I350V CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 350 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I202V(2)|p.I350V(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 CCGGCTAGAAATCAACGTGCT 0.542000 7 42 0 0 0.248553 0 0 CD1B 910 broad.mit.edu 37 1 158299693 158299693 + Nonsense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:158299693G>A ENST00000368168.3 - 3 663 c.556C>T c.(556-558)Cga>Tga p.R186* NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 186 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.R186*(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AAGAGATATCGGGGGCAGGTT 0.463000 25 135 0 0 0.654019 0 0 KIAA0556 23247 broad.mit.edu 37 16 27585275 27585275 + Nonsense_Mutation SNP G G T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr16:27585275G>T ENST00000261588.4 + 2 80 c.61G>T c.(61-63)Gag>Tag p.E21* NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 21 p.E21*(2) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 AGAGAAAAAGGAGGTAAATGT 0.488000 11 29 6.81908e-15 7.92487e-15 0.457914 1 0 AMER3 205147 broad.mit.edu 37 2 131520858 131520858 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr2:131520858C>T ENST00000423981.1 + 2 1323 c.1213C>T c.(1213-1215)Cca>Tca p.P405S AMER3_ENST00000321420.4_Missense_Mutation_p.P405S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.P405S(1) AGCTGAGAGCCCAGGCACTCC 0.632000 18 55 0 0 0.557998 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220378 130220378 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chrX:130220378C>T ENST00000276211.5 + 10 1702 c.1357C>T c.(1357-1359)Cgc>Tgc p.R453C ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 453 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R453C(2) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TTTTATCAGACGCAGGAACTT 0.473000 22 30 0 0 0.624587 0 0 CADM2 253559 broad.mit.edu 37 3 86114827 86114827 + Missense_Mutation SNP T T G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr3:86114827T>G ENST00000383699.3 + 9 1670 c.1043T>G c.(1042-1044)tTt>tGt p.F348C CADM2_ENST00000407528.2_Missense_Mutation_p.F379C|CADM2_ENST00000405615.2_Missense_Mutation_p.F381C NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 379 Thr-rich. adherens junction organization|cell junction assembly integral to membrane|plasma membrane p.F381C(2)|p.F348C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTAGTTGTATTTGTCACGCTG 0.423000 4 48 0 0 0.150653 0 0 USP16 0 broad.mit.edu 37 21 30411465 30411465 + Missense_Mutation SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr21:30411465A>G ENST00000334352.4 + 9 1082 c.851A>G c.(850-852)cAg>cGg p.Q284R USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000535828.1_Intron NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 284 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.Q284R(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 CTCTTTTCTCAGGTCTGTAAA 0.378000 5 56 0 0 0.184627 0 0 ZNF257 113835 broad.mit.edu 37 19 22271354 22271354 + Missense_Mutation SNP C C T rs17853619 TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr19:22271354C>T ENST00000594947.1 + 4 946 c.802C>T c.(802-804)Cgg>Tgg p.R268W NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R268W(1) haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AGCCTTTAACCGGTCTTCACA 0.388000 3 33 0 0 0.115264 0 0 AC008103.5 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 3 55 0 0 0.115264 0 0 PCLO 27445 broad.mit.edu 37 7 82763829 82763829 + Missense_Mutation SNP C C G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr7:82763829C>G ENST00000423517.2 - 3 3374 c.3037G>C c.(3037-3039)Gaa>Caa p.E1013Q PCLO_ENST00000333891.8_Missense_Mutation_p.E1013Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 959 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.E1013Q(2)|p.E959Q(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAGCTTGTTCAGCTTTGGGC 0.433000 12 33 0 0 0.387290 0 0 GSDMD 79792 broad.mit.edu 37 8 144643541 144643541 + Splice_Site SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr8:144643541C>T ENST00000526406.1 + 9 1567 c.682_splice c.e9-1 p.D228_splice GSDMD_ENST00000262580.4_Splice_Site_p.D228_splice|GSDMD_ENST00000533063.1_Splice_Site_p.D276_splice NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 228 p.D228D(1) breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 GGCTGCCAGACGTCCTTCTCT 0.637000 3 14 0 0 0.150653 0 0 ATP10B 23120 broad.mit.edu 37 5 160033839 160033839 + Silent SNP C C A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr5:160033839C>A ENST00000327245.5 - 19 3939 c.3093G>T c.(3091-3093)acG>acT p.T1031T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1031 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.T1031T(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGGAGTGGCGTGGAGCGGC 0.512000 27 99 8.24728e-16 9.98355e-16 0.681144 1 0 ZNF689 115509 broad.mit.edu 37 16 30620889 30620889 + Silent SNP A A C TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr16:30620889A>C ENST00000287461.3 - 2 613 c.276T>G c.(274-276)gcT>gcG p.A92A ZNF689_ENST00000566673.1_5'UTR NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 92 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A92A(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) GCGGATCTAGAGCAGCCGGTT 0.547000 20 64 0 0 0.575678 0 0 SPAG17 200162 broad.mit.edu 37 1 118554950 118554950 + Missense_Mutation SNP C C G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr1:118554950C>G ENST00000336338.5 - 30 4398 c.4333G>C c.(4333-4335)Gat>Cat p.D1445H NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1445 cilium|flagellar axoneme|microtubule p.D1445H(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CGAGTACCATCTTTCCTTTCA 0.393000 14 50 0 0 0.457914 0 0 SCML4 256380 broad.mit.edu 37 6 108042009 108042009 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr6:108042009G>A ENST00000369022.2 - 5 906 c.697C>T c.(697-699)Cgc>Tgc p.R233C SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C|SCML4_ENST00000369020.3_Missense_Mutation_p.R291C Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R262C(1) endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GGGCTAGTGCGGGGACCACCA 0.637000 4 87 0 0 0.150653 0 0 PCSK5 5125 broad.mit.edu 37 9 78790082 78790082 + Missense_Mutation SNP G G T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr9:78790082G>T ENST00000376767.3 + 14 2449 c.1937G>T c.(1936-1938)aGg>aTg p.R646M PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCTAAAAAGAGGCAGCTCATG 0.483000 7 46 7.48243e-07 8.60479e-07 0.335167 1 0 PRRX1 5396 broad.mit.edu 37 1 170688957 170688957 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr1:170688957G>A ENST00000239461.6 + 2 645 c.332G>A c.(331-333)cGt>cAt p.R111H PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H|PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 111 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R111H(1) large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTTTGGAGCGTGTCTTTGAG 0.512000 20 61 0 0 0.592651 0 0 DNM1P47 0 broad.mit.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr15:102305092A>G ENST00000561463.1 + 0 13138 CATGAACACCATCAGCACAGC 0.632000 4 26 0 0 0.150653 0 0 FAM174A 345757 broad.mit.edu 37 5 99871330 99871330 + Silent SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr5:99871330C>T ENST00000312637.4 + 1 322 c.96C>T c.(94-96)gtC>gtT p.V32V NM_198507.1 NP_940909.1 Q8TBP5 F174A_HUMAN family with sequence similarity 174, member A 32 integral to membrane p.V32V(1) breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CCCTGGCAGTCCTGCTGCAGG 0.672000 7 82 0 0 0.335167 0 0 PCDHA6 0 broad.mit.edu 37 5 140209661 140209661 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr5:140209661C>T ENST00000529310.1 + 1 2099 c.1985C>T c.(1984-1986)aCg>aTg p.T662M PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.T662M(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGACAGCGACGGCCACGGTT 0.697000 23 69 0 0 0.624587 0 0 WASH4P 0 broad.mit.edu 37 16 66940 66940 + Silent SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr16:66940G>A ENST00000326592.9 - 5 1354 c.696C>T c.(694-696)agC>agT p.S232S p.S232S(1) GCTCTCTCTTGCTGATGGACA 0.597000 5 34 0 0 0.248553 0 0 KNDC1 85442 broad.mit.edu 37 10 135012126 135012126 + Missense_Mutation SNP G G T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr10:135012126G>T ENST00000304613.3 + 14 2135 c.2114G>T c.(2113-2115)gGc>gTc p.G705V KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V|KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 705 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.G705V(2) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GAGAGGGGCGGCCAGAGGGAG 0.721000 3 20 1.23904e-05 1.39014e-05 0.184627 1 0 SDHA 6389 broad.mit.edu 37 5 228381 228381 + Missense_Mutation SNP A A T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr5:228381A>T ENST00000264932.6 + 6 818 c.703A>T c.(703-705)Atc>Ttc p.I235F SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 235 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCGTGGTGTCATCGCACTGTG 0.428000 Familial Paragangliomas 5 53 0 0 0.184627 0 0 ST5 6764 broad.mit.edu 37 11 8729383 8729383 + Missense_Mutation SNP G G C TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr11:8729383G>C ENST00000534127.1 - 15 2756 c.2371C>G c.(2371-2373)Cgg>Ggg p.R791G ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.R263G NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 791 DENN. positive regulation of ERK1 and ERK2 cascade protein binding p.R791R(1)|p.R791G(1) NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TCTGGCAACCGGGGCCCTTTC 0.577000 3 20 0 0 0.115264 0 0 KIAA0556 23247 broad.mit.edu 37 16 27585275 27585275 + Nonsense_Mutation SNP G G T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr16:27585275G>T ENST00000261588.4 + 2 80 c.61G>T c.(61-63)Gag>Tag p.E21* NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 21 p.E21*(2) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 AGAGAAAAAGGAGGTAAATGT 0.488000 11 29 6.81908e-15 8.04301e-15 0.457914 1 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 156 0 0 0.217242 0 0 USP16 0 broad.mit.edu 37 21 30411465 30411465 + Missense_Mutation SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr21:30411465A>G ENST00000334352.4 + 9 1082 c.851A>G c.(850-852)cAg>cGg p.Q284R USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000535828.1_Intron NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 284 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.Q284R(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 CTCTTTTCTCAGGTCTGTAAA 0.378000 5 56 0 0 0.184627 0 0 RASGRF1 5923 broad.mit.edu 37 15 79382656 79382656 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr15:79382656G>A ENST00000419573.3 - 1 459 c.185C>T c.(184-186)cCc>cTc p.P62L RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 62 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity p.P62L(1) breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAGCCCCGAGGGCCGCGAGCT 0.642000 16 47 0 0 0.479597 0 0 TRIB2 28951 broad.mit.edu 37 2 12863619 12863619 + Silent SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr2:12863619C>T ENST00000155926.4 + 2 1923 c.504C>T c.(502-504)gaC>gaT p.D168D TRIB2_ENST00000381465.2_Silent_p.D32D|TRIB2_ENST00000405331.3_Silent_p.D168D NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 168 Protein kinase. negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity p.D168D(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACTGCCATGACGGGGGGCTGG 0.577000 15 76 0 0 0.479597 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161602 90161602 + RNA SNP T T C rs150689786 by1000genomes TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr16:90161602T>C ENST00000564451.1 + 0 955 TUBB8P7_ENST00000567960.1_RNA GCGGAGCTGATGGAGTCAGTG 0.612000 3 41 0 0 0.150653 0 0 THEG 51298 broad.mit.edu 37 19 375680 375680 + Silent SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr19:375680C>T ENST00000342640.4 - 1 333 c.291G>A c.(289-291)gaG>gaA p.E97E THEG_ENST00000346878.2_Silent_p.E97E NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 97 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding p.E97E(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGAATGTCCTCTTCCAAGT 0.657000 36 169 0 0 0.812448 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161609 90161609 + RNA SNP A A G rs139928438 by1000genomes TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr16:90161609A>G ENST00000564451.1 + 0 962 TUBB8P7_ENST00000567960.1_RNA TGATGGAGTCAGTGATGGACG 0.617000 3 39 0 0 0.150653 0 0 PCDHGB3 0 broad.mit.edu 37 5 140751900 140751900 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr5:140751900C>T ENST00000576222.1 + 1 2070 c.1939C>T c.(1939-1941)Cgt>Tgt p.R647C PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCACTGTGCGTGATGGAGG 0.652000 14 89 0 0 0.479597 0 0 LRRC47 57470 broad.mit.edu 37 1 3697704 3697704 + Missense_Mutation SNP G G C TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr1:3697704G>C ENST00000378251.1 - 7 1727 c.1700C>G c.(1699-1701)cCg>cGg p.P567R NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 567 translation phenylalanine-tRNA ligase activity|RNA binding p.P567R(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGCCTTGGACGGGTACACCAC 0.652000 17 69 0 0 0.539581 0 0 HTR5A 3361 broad.mit.edu 37 7 154862620 154862620 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr7:154862620C>T ENST00000287907.2 + 1 587 c.11C>T c.(10-12)cCt>cTt p.P4L AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron|AC093726.4_ENST00000395731.2_Intron NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 4 integral to plasma membrane serotonin receptor activity p.P4L(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) ATGGATTTACCTGTGAACCTA 0.612000 27 133 0 0 0.706142 0 0 PLXNA2 5362 broad.mit.edu 37 1 208272307 208272307 + Missense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr1:208272307G>A ENST00000367033.3 - 6 2372 c.1615C>T c.(1615-1617)Cgc>Tgc p.R539C NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 539 axon guidance integral to membrane|intracellular|plasma membrane p.R539C(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) TTGTCCCTGCGGGAGCACCTG 0.562000 6 21 0 0 0.278610 0 0 NRAP 4892 broad.mit.edu 37 10 115372082 115372082 + Missense_Mutation SNP C C A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr10:115372082C>A ENST00000369358.4 - 30 3677 c.3433G>T c.(3433-3435)Gac>Tac p.D1145Y NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1137 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding p.D1137Y(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TGTTTGTAGTCCTGATTGCTG 0.542000 13 81 0.000151284 0.000161839 0.435327 1 0 CLK3 1198 broad.mit.edu 37 15 74917313 74917313 + Missense_Mutation SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr15:74917313A>G ENST00000395066.3 + 6 1509 c.1048A>G c.(1048-1050)Atc>Gtc p.I350V CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V NM_001130028.1 NP_001123500.1 P49761 CLK3_HUMAN CDC-like kinase 3 350 Protein kinase. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I202V(2)|p.I350V(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 CCGGCTAGAAATCAACGTGCT 0.542000 7 42 0 0 0.248553 0 0 CD1B 910 broad.mit.edu 37 1 158299693 158299693 + Nonsense_Mutation SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr1:158299693G>A ENST00000368168.3 - 3 663 c.556C>T c.(556-558)Cga>Tga p.R186* NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 186 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.R186*(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AAGAGATATCGGGGGCAGGTT 0.463000 25 135 0 0 0.654019 0 0 AMER3 205147 broad.mit.edu 37 2 131520858 131520858 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr2:131520858C>T ENST00000423981.1 + 2 1323 c.1213C>T c.(1213-1215)Cca>Tca p.P405S AMER3_ENST00000321420.4_Missense_Mutation_p.P405S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 p.P405S(1) AGCTGAGAGCCCAGGCACTCC 0.632000 18 55 0 0 0.557998 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130220378 130220378 + Missense_Mutation SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chrX:130220378C>T ENST00000276211.5 + 10 1702 c.1357C>T c.(1357-1359)Cgc>Tgc p.R453C ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 453 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R453C(2) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TTTTATCAGACGCAGGAACTT 0.473000 22 30 0 0 0.624587 0 0 CADM2 253559 broad.mit.edu 37 3 86114827 86114827 + Missense_Mutation SNP T T G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr3:86114827T>G ENST00000383699.3 + 9 1670 c.1043T>G c.(1042-1044)tTt>tGt p.F348C CADM2_ENST00000405615.2_Missense_Mutation_p.F381C|CADM2_ENST00000407528.2_Missense_Mutation_p.F379C NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 379 Thr-rich. adherens junction organization|cell junction assembly integral to membrane|plasma membrane p.F381C(2)|p.F348C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTAGTTGTATTTGTCACGCTG 0.423000 4 48 0 0 0.150653 0 0 ZNF257 113835 broad.mit.edu 37 19 22271354 22271354 + Missense_Mutation SNP C C T rs17853619 TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr19:22271354C>T ENST00000594947.1 + 4 946 c.802C>T c.(802-804)Cgg>Tgg p.R268W NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R268W(1) haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) AGCCTTTAACCGGTCTTCACA 0.388000 3 33 0 0 0.115264 0 0 AC008103.5 0 broad.mit.edu 37 22 18846006 18846006 + RNA SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr22:18846006A>G ENST00000412938.1 + 0 3364 GCGCAGGCCGACACTCACTGA 0.617000 3 55 0 0 0.115264 0 0 PCLO 27445 broad.mit.edu 37 7 82763829 82763829 + Missense_Mutation SNP C C G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr7:82763829C>G ENST00000423517.2 - 3 3374 c.3037G>C c.(3037-3039)Gaa>Caa p.E1013Q PCLO_ENST00000333891.8_Missense_Mutation_p.E1013Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 959 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.E1013Q(2)|p.E959Q(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAGCTTGTTCAGCTTTGGGC 0.433000 12 33 0 0 0.387290 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 73 0 0 0.184627 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073169 17073169 + Missense_Mutation SNP C C A TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr22:17073169C>A ENST00000359963.3 - 1 531 c.272G>T c.(271-273)cGg>cTg p.R91L NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 91 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.R91L(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) TCCTGCTTCCCGGAGGAGCCA 0.602000 3 47 0.115264 0.117825 0.115264 1 0 GSDMD 79792 broad.mit.edu 37 8 144643541 144643541 + Splice_Site SNP C C T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr8:144643541C>T ENST00000526406.1 + 9 1567 c.682_splice c.e9-1 p.D228_splice GSDMD_ENST00000533063.1_Splice_Site_p.D276_splice|GSDMD_ENST00000262580.4_Splice_Site_p.D228_splice NM_001166237.1 NP_001159709.1 P57764 GSDMD_HUMAN gasdermin D 228 p.D228D(1) breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 12 GGCTGCCAGACGTCCTTCTCT 0.637000 3 14 0 0 0.150653 0 0 CYP4Z2P 0 broad.mit.edu 37 1 47310359 47310360 + RNA INS - - T TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr1:47310359_47310360insT ENST00000505841.1 - 0 1269 NR_002788.2 CAAAAACAAAACCCTAGATATT 0.421 5 6 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78790077 78790078 + Frame_Shift_Ins INS - - GG TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr9:78790077_78790078insGG ENST00000376767.3 + 14 2444_2445 c.1932_1933insGG c.(1930-1935)aaagagfs p.KE644fs PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CACAGGCTAAAAAGAGGCAGCT 0.485 10 51 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 4b005f8d-1af2-4aff-87b6-de830251409b g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccaccatcaccaccaccacc 0.532 2 4 --- --- --- --- PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 3 6 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78790077 78790078 + Frame_Shift_Ins INS - - GG TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr9:78790077_78790078insGG ENST00000376767.3 + 14 2444_2445 c.1932_1933insGG c.(1930-1935)aaagagfs p.KE644fs PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CACAGGCTAAAAAGAGGCAGCT 0.485 10 51 --- --- --- --- FAM181B 220382 broad.mit.edu 37 11 82443763 82443763 + Frame_Shift_Del DEL G G - TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-11A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667ba573-9cd4-4916-8b54-d529c24cd63e 19e9336f-2e5d-497a-a5ed-4490e8d27f2b g.chr11:82443763delG ENST00000329203.3 - 1 1143 c.1009delC c.(1009-1011)tgfs p.L337fs NM_175885.3 NP_787081.2 A6NEQ2 F181B_HUMAN family with sequence similarity 181, member B 337 Pro-rich. large_intestine(1)|lung(2)|prostate(1) 4 GGGGCAGTCAGGGGGCTCTTT 0.711 2 4 --- --- --- ---