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 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 0.393 14 50 --- --- --- --- 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 0.562 6 21 --- --- --- --- 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 0.632 18 55 --- --- --- --- 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_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 0.423 4 48 --- --- --- --- 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 0.672 7 82 --- --- --- --- 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 HTR5A-AS1_ENST00000493904.1_Intron|HTR5A-AS1_ENST00000395731.2_Intron|HTR5A-AS1_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 0.612 27 133 --- --- --- --- 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.684C>T c.(682-684)gaC>gaT p.D228D GSDMD_ENST00000533063.1_Splice_Site_p.D276D|GSDMD_ENST00000262580.4_Splice_Site_p.D228D 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 0.637 3 14 --- --- --- --- 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_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 0.483 7 46 --- --- --- --- 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_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y 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 0.542 13 81 --- --- --- --- 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_ENST00000368572.2_Missense_Mutation_p.G705V|KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V 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 0.721 3 20 --- --- --- --- 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_ENST00000530991.1_Missense_Mutation_p.R263G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|ST5_ENST00000534278.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R791G 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 0.577 3 20 --- --- --- --- 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_ENST00000345005.4_Missense_Mutation_p.I202V|CLK3_ENST00000348245.3_3'UTR 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 0.542 7 42 --- --- --- --- 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 0.642 16 47 --- --- --- --- 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 0.488 11 29 --- --- --- --- 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 0.547 20 64 --- --- --- --- 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 0.657 36 169 --- --- --- --- USP16 10600 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_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R 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 0.378 5 56 --- --- --- --- 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.(1933-1935)aagfs p.K645fs 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 --- --- --- ---