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 DLEC1 9940 broad.mit.edu 37 3 38104135 38104135 + Missense_Mutation SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr3:38104135G>A ENST00000308059.6 + 5 958 c.937G>A c.(937-939)Gac>Aac p.D313N DLEC1_ENST00000452631.2_Missense_Mutation_p.D313N|DLEC1_ENST00000346219.3_Missense_Mutation_p.D313N Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 313 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) GAGAGAGCTAGACAGACTTCT 0.428000 3 33 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123900690 123900690 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr11:123900690C>T ENST00000431524.1 + 1 394 c.361C>T c.(361-363)Cgc>Tgc p.R121C NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GTCCTGTGATCGCTACCTGGC 0.562000 5 106 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 5 177 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151933008 151933008 + Missense_Mutation SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr7:151933008G>A ENST00000355193.2 - 16 2881 c.2663C>T c.(2662-2664)tCt>tTt p.S888F KMT2C_ENST00000262189.6_Missense_Mutation_p.S888F lysine (K)-specific methyltransferase 2C TGGAAATCCAGACCCACGGCC 0.453000 6 51 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73050842 73050842 + Missense_Mutation SNP G G A rs140003194 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr10:73050842G>A ENST00000335350.6 + 9 1686 c.1270G>A c.(1270-1272)Gtc>Atc p.V424I UNC5B_ENST00000373192.4_Missense_Mutation_p.V413I NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 424 apoptosis|axon guidance|regulation of apoptosis integral to membrane p.V424I(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TTTCCACCCCGTCAACTTTAA 0.602000 5 226 0 0 1 0 0 GLYATL1 92292 broad.mit.edu 37 11 58722339 58722339 + Missense_Mutation SNP G G A rs145603117 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr11:58722339G>A ENST00000300079.5 + 5 426 c.376G>A c.(376-378)Gta>Ata p.V126I GLYATL1_ENST00000317391.4_Missense_Mutation_p.V95I|RP11-142C4.6_ENST00000533954.1_RNA NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 95 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) TTGTGAGATCGTAAACTGGAA 0.393000 3 26 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236154305 236154305 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr1:236154305C>T ENST00000264187.6 - 14 2891 c.2809G>A c.(2809-2811)Gtg>Atg p.V937M NID1_ENST00000366595.3_Missense_Mutation_p.V804M NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 937 cell-matrix adhesion basement membrane calcium ion binding p.V937M(1) breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) AAGGGGATCACGGCGGTAGGC 0.597000 19 19 0 0 1 0 0 TPPP3 51673 broad.mit.edu 37 16 67424181 67424181 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr16:67424181C>T ENST00000564104.1 - 3 1268 c.427G>A c.(427-429)Ggc>Agc p.G143S TPPP3_ENST00000393957.2_Missense_Mutation_p.G143S|TPPP3_ENST00000290942.5_Missense_Mutation_p.G143S|TPPP3_ENST00000562206.1_Missense_Mutation_p.G143S Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 143 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) TTGCCCTTGCCGCTCTCATCG 0.577000 4 107 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 44 0 0 1 0 0 PPP3R2 5535 broad.mit.edu 37 9 104357180 104357180 + Silent SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr9:104357180C>T ENST00000374806.1 - 1 103 c.33G>A c.(31-33)ccG>ccA p.P11P GRIN3A_ENST00000361820.3_Intron NM_147180.2 NP_671709.1 Q96LZ3 CANB2_HUMAN protein phosphatase 3, regulatory subunit B, beta 8 calcium ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) ACATCTCCGCCGGGTAACTGG 0.582000 37 46 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118582524 118582524 + Silent SNP T T C TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr2:118582524T>C ENST00000263239.2 + 9 1343 c.1215T>C c.(1213-1215)gtT>gtC p.V405V NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 405 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGGGATATGTTGTTTGTCCTT 0.363000 6 62 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10934987 10934987 + Missense_Mutation SNP C C T TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr21:10934987C>T ENST00000298232.7 - 14 1119 c.752G>A c.(751-753)cGg>cAg p.R251Q TPTE_ENST00000342420.5_Missense_Mutation_p.R231Q|TPTE_ENST00000361285.4_Missense_Mutation_p.R269Q|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 269 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) ATCTAGAAACCGCACAACTTC 0.338000 6 194 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19226895 19226895 + Missense_Mutation SNP A A G TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr22:19226895A>G ENST00000263200.10 - 5 770 c.698T>C c.(697-699)gTt>gCt p.V233A CLTCL1_ENST00000427926.1_Missense_Mutation_p.V233A|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V233A NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 233 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) AGGCTGTCCAACTTCAATGAT 0.488000 T ? ALCL 4 93 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4511859 4511859 + Missense_Mutation SNP T T C TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr19:4511859T>C ENST00000301286.3 - 3 2070 c.2071A>G c.(2071-2073)Atg>Gtg p.M691V NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 691 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ACTGCCCCCATGAGCCCAGTA 0.592000 6 521 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4933851 4933851 + Missense_Mutation SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr16:4933851G>A ENST00000345988.2 - 22 4894 c.4805C>T c.(4804-4806)gCg>gTg p.A1602V PPL_ENST00000590782.2_Missense_Mutation_p.A1600V NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1602 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CCCAGAGTCCGCCACGGTCAT 0.577000 4 146 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30348408 30348408 + Silent SNP G G A TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr17:30348408G>A ENST00000327564.7 + 1 385 c.324G>A c.(322-324)tcG>tcA p.S108S LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000584368.1_Silent_p.S93S|LRRC37B_ENST00000394713.3_Silent_p.S81S|LRRC37B_ENST00000341671.7_Silent_p.S81S Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 81 integral to membrane p.S81S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) CTGCTTCTTCGCAGATGTCAG 0.597000 47 52 0 0 1 0 0 NKD2 85409 broad.mit.edu 37 5 1038447 1038449 + In_Frame_Del DEL CAC CAC - rs3840989 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr5:1038447_1038449delCAC ENST00000296849.5 + 10 1544_1546 c.1315_1317delCAC c.(1315-1317)del p.H447del NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del|NKD2_ENST00000274150.4_3'UTR NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 447 His-rich. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) ccaccacgagcaccaccaccacc 0.690 2 4 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 4 4 --- --- --- --- CPVL 54504 broad.mit.edu 37 7 29070261 29070262 + Frame_Shift_Ins INS - - T rs5883182 TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr7:29070261_29070262insT ENST00000409850.1 - 16 1897_1898 c.1251_1252insA c.(1249-1254)aatttgfs p.NL417fs CPVL_ENST00000265394.5_Frame_Shift_Ins_p.NL417fs|CPVL_ENST00000396276.3_Frame_Shift_Ins_p.NL417fs Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 417 proteolysis protein binding|serine-type carboxypeptidase activity p.V418fs*24(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 ATCTTCCAAACTTTTTTTTCTG 0.510 10 296 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226611 88226611 + RNA DEL G G - TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr16:88226611delG ENST00000568587.1 - 0 91 tggtggtgatggtggtgatgg 0.522 2 4 --- --- --- --- LRRN4 164312 broad.mit.edu 37 20 6033401 6033401 + Frame_Shift_Del DEL G G - TCGA-WB-A81A-01A-11D-A35I-08 TCGA-WB-A81A-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 667773ea-563c-4e90-b035-2075043477d7 c9c8d211-4711-4311-991e-c54adfec6f0a g.chr20:6033401delG ENST00000378858.4 - 2 269 c.45delC c.(43-45)ccfs p.P15fs NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 15 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CTGCCCAGCTGGGGCGCAGCA 0.682 2 4 --- --- --- ---