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 GPATCH4 54865 broad.mit.edu 37 1 156568875 156568875 + Translation_Start_Site SNP G G T TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr1:156568875G>T ENST00000368232.4 - 0 96 GPATCH4_ENST00000438976.2_Intron|GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACTCTCACCAGAGAAGAAGAG 0.448 3 71 --- --- --- --- OR6K2 81448 broad.mit.edu 37 1 158669837 158669837 + Silent SNP G G T TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr1:158669837G>T ENST00000359610.2 - 1 649 c.606C>A c.(604-606)gtC>gtA p.V202V NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V202V(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) CTGCATGAATGACATCCACTA 0.483 31 194 --- --- --- --- TM4SF18 116441 broad.mit.edu 37 3 149040066 149040066 + Nonsense_Mutation SNP C C A TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr3:149040066C>A ENST00000296059.2 - 5 833 c.568G>T c.(568-570)Gga>Tga p.G190* RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190* NM_138786.3 NP_620141.1 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 190 integral to membrane p.G190*(1) lung(1)|ovary(1)|prostate(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GAATAGCTTCCACACAGTATC 0.428 3 83 --- --- --- --- GRID2 2895 broad.mit.edu 37 4 94006409 94006409 + Missense_Mutation SNP A A G TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr4:94006409A>G ENST00000282020.4 + 3 766 c.508A>G c.(508-510)Ata>Gta p.I170V GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 170 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.I170V(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GAAATTCATTATATTCTATGA 0.353 4 347 --- --- --- --- C6orf165 154313 broad.mit.edu 37 6 88138375 88138375 + Missense_Mutation SNP C C G TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr6:88138375C>G ENST00000507897.1 + 9 1075 c.992C>G c.(991-993)aCc>aGc p.T331S C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 331 p.T331S(2) NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ACTCTGTGGACCAGCTTGCAA 0.368 35 346 --- --- --- --- CYP3A43 64816 broad.mit.edu 37 7 99441785 99441785 + Missense_Mutation SNP C C A TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr7:99441785C>A ENST00000354829.2 + 4 341 c.238C>A c.(238-240)Ccc>Acc p.P80T CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 80 YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding p.P80T(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GGGGCAACAGCCCATGCTGGT 0.458 4 82 --- --- --- --- AGK 55750 broad.mit.edu 37 7 141315347 141315347 + Missense_Mutation SNP A A T TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr7:141315347A>T ENST00000355413.4 + 8 760 c.500A>T c.(499-501)gAa>gTa p.E167V AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 167 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity p.E167V(2) breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) CTCTTTGCCGAAAGTGGAAAC 0.443 68 321 --- --- --- --- NSMAF 8439 broad.mit.edu 37 8 59515931 59515931 + Missense_Mutation SNP C C T TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr8:59515931C>T ENST00000038176.3 - 13 1095 c.883G>A c.(883-885)Gag>Aag p.E295K NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR NM_003580.3 NP_003571.2 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation associated factor 295 BEACH. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity p.E295K(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 38 all_lung(136;0.174)|Lung NSC(129;0.2) GCAGTGTGCTCCGCCACATGG 0.552 23 106 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18662047 18662047 + Missense_Mutation SNP G G A TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr9:18662047G>A ENST00000380548.4 + 9 1400 c.1061G>A c.(1060-1062)tGc>tAc p.C354Y ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 354 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.C354Y(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) CTTCAGGAGTGCAACTTGGAT 0.418 38 209 --- --- --- --- ZNF438 220929 broad.mit.edu 37 10 31133925 31133925 + Missense_Mutation SNP C C G TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr10:31133925C>G ENST00000452305.1 - 9 2985 c.2422G>C c.(2422-2424)Gga>Cga p.G808R ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R NM_001143770.1 NP_001137242.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 818 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G818R(1) breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) TCGATCACTCCCTGGTTGGAG 0.542 80 364 --- --- --- --- TNKS2 80351 broad.mit.edu 37 10 93600428 93600428 + Silent SNP A A G TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr10:93600428A>G ENST00000371627.4 + 14 2017 c.1638A>G c.(1636-1638)ctA>ctG p.L546L NM_025235.3 NP_079511.1 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 546 positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding p.L546L(2) biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 48 Colorectal(252;0.162) AATATCTGCTACAGCATGGAG 0.433 7 330 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1019457 1019457 + Missense_Mutation SNP G G A TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr11:1019457G>A ENST00000421673.2 - 30 3898 c.3848C>T c.(3847-3849)aCa>aTa p.T1283I NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1283 Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent p.T1283I(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCCCTGATGTGGCTTGTGG 0.642 5 188 --- --- --- --- RPS6KB2 6199 broad.mit.edu 37 11 67196653 67196653 + Missense_Mutation SNP G G A TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr11:67196653G>A ENST00000312629.5 + 3 227 c.182G>A c.(181-183)cGc>cAc p.R61H RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H|RPS6KB2_ENST00000524814.1_3'UTR NM_003952.2 NP_003943.2 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 2 61 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity p.R61H(3) breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2) 25 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) GGCCCAGAGCGCATCGGGCCC 0.622 4 192 --- --- --- --- ATF7IP 55729 broad.mit.edu 37 12 14628823 14628823 + Splice_Site SNP G G T TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr12:14628823G>T ENST00000544627.1 + 11 3206 c.e11-1 ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding p.?(1) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TTGTTTTTCAGTGTGGAAAAG 0.363 18 101 --- --- --- --- TRPV2 51393 broad.mit.edu 37 17 16321054 16321054 + Missense_Mutation SNP G G T TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr17:16321054G>T ENST00000338560.7 + 2 471 c.72G>T c.(70-72)gaG>gaT p.E24D TRPV2_ENST00000577397.1_5'UTR NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 24 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity p.E24D(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATGGCTCTGAGGCGGACAGAG 0.577 4 109 --- --- --- --- CRLF3 51379 broad.mit.edu 37 17 29111372 29111372 + Missense_Mutation SNP T T G TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr17:29111372T>G ENST00000324238.6 - 8 1286 c.1162A>C c.(1162-1164)Act>Cct p.T388P CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P NM_015986.3 NP_057070.3 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 388 negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm p.T388P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) GTTCCTAGAGTCACGGCTTCA 0.388 3 137 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028287 55028287 + Missense_Mutation SNP G G A TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr17:55028287G>A ENST00000240316.4 - 2 350 c.316C>T c.(316-318)Ctt>Ttt p.L106F NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 106 Cajal body|nucleolus protein C-terminus binding p.L106F(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) GCTTTTCTAAGAGATAAATTA 0.378 4 230 --- --- --- --- PARVB 29780 broad.mit.edu 37 22 44527372 44527372 + Missense_Mutation SNP C C G TCGA-EJ-5512-01A-01D-1576-08 TCGA-EJ-5512-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx 49224380-bffd-4048-93a7-fb4b19285c35 05c383c1-ef34-477c-b518-2b48a62f2443 g.chr22:44527372C>G ENST00000338758.7 + 5 445 c.382C>G c.(382-384)Ctg>Gtg p.L128V PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta CH 1. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding p.L161V(1) NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) TGCAGAAAAACTGGCAGGGTG 0.542 7 78 --- --- --- ---