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_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PER3 8863 broad.mit.edu 37 1 7880227 7880227 + Missense_Mutation SNP A A T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr1:7880227A>T uc001aoo.2 + 14 1862 c.1687A>T c.(1687-1689)ACA>TCA p.T563S PER3_uc009vmg.1_Missense_Mutation_p.T571S|PER3_uc009vmh.1_Missense_Mutation_p.T564S|PER3_uc001aop.2_Missense_Mutation_p.T571S|PER3_uc010nzw.1_Missense_Mutation_p.T252S NM_016831 NP_058515 P56645 PER3_HUMAN period 3 563 CSNK1E binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) TATCTCCTGTACAAATACAAC 0.398 NA 5 59 0 0 0 0 ASH1L 55870 broad.mit.edu 37 1 155319129 155319129 + Missense_Mutation SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr1:155319129G>A uc009wqq.2 - 19 8038 c.7558C>T c.(7558-7560)CGG>TGG p.R2520W RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.R2515W|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2520 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TCAGCATTCCGAAAGACTTTG 0.383 NA 7 57 0 0 0 0 HKDC1 80201 broad.mit.edu 37 10 71003038 71003038 + Silent SNP C C T rs138098227 TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr10:71003038C>T uc001jpf.3 + 7 925 c.792C>T c.(790-792)TTC>TTT p.F264F HKDC1_uc010qje.1_Silent_p.F127F NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 264 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 GGGGGGCCTTCGGGGACGACG 0.592 NA 5 87 0 0 0 0 TAF10 6881 broad.mit.edu 37 11 6632457 6632457 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr11:6632457T>C uc001mej.1 - 4 555 c.530A>G c.(529-531)AAG>AGG p.K177R NM_006284 NP_006275 Q12962 TAF10_HUMAN TBP-related factor 10 177 histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex estrogen receptor binding|RNA polymerase binding|transcription coactivator activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGCCGTGCCCTTCATTTTGCA 0.488 NA 5 64 0 0 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286073 11286073 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr12:11286073C>A uc009zhs.1 - 1 771 c.771G>T c.(769-771)AAG>AAT p.K257N PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_001097643 NP_001091112 type 2 taste receptor member 30 0 AGACAGGTTGCTTTTCCAGCC 0.388 NA 12 116 1.58e-08 1.75e-08 1 0 EID3 493861 broad.mit.edu 37 12 104698633 104698633 + Missense_Mutation SNP A A G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr12:104698633A>G uc001tkw.2 + 1 1085 c.921A>G c.(919-921)ATA>ATG p.I307M TXNRD1_uc010swk.1_Intron|TXNRD1_uc010swl.1_Intron|TXNRD1_uc010swm.1_Intron|TXNRD1_uc010swn.1_Intron|TXNRD1_uc010swo.1_Intron|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Intron|TXNRD1_uc001tku.2_Intron|TXNRD1_uc001tko.1_Intron|TXNRD1_uc001tkp.1_Intron|TXNRD1_uc001tkv.1_Intron NM_001008394 NP_001008395 Q8N140 EID3_HUMAN EP300 interacting inhibitor of differentiation 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 AGGGAGTTATATCTTTGACTT 0.398 NA 10 63 0 0 0 0 EPSTI1 94240 broad.mit.edu 37 13 43500540 43500540 + Missense_Mutation SNP G G T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr13:43500540G>T uc001uyw.1 - 7 665 c.589C>A c.(589-591)CTG>ATG p.L197M EPSTI1_uc001uyx.1_Missense_Mutation_p.L197M NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 197 ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) TCTGTGTTCAGTTTGCTCAAG 0.428 NA 12 170 0.00010058 0.000108775 1 0 PRKD1 5587 broad.mit.edu 37 14 30100144 30100144 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr14:30100144G>A uc001wqh.2 - 10 1657 c.1476C>T c.(1474-1476)TTC>TTT p.F492F NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 492 PH. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) TAGTGATTTCGAAACAATGAG 0.398 NA 7 80 0 0 0 0 SERPINA12 145264 broad.mit.edu 37 14 94956062 94956062 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr14:94956062G>A uc001ydj.2 - 5 1744 c.948C>T c.(946-948)ACC>ACT p.T316T NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 316 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) TCAGGTCGAAGGTGCCCGTCA 0.532 NA 5 50 0 0 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499318 59499318 + Missense_Mutation SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr15:59499318G>A uc002agb.2 + 1 277 c.179G>A c.(178-180)CGT>CAT p.R60H MYO1E_uc002aga.2_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 60 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding 0 NADH(DB00157) CTTATTGAGCGTTTCACTTCC 0.552 NA 5 78 0 0 0 0 PMFBP1 83449 broad.mit.edu 37 16 72159281 72159281 + Silent SNP T T G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr16:72159281T>G uc002fcc.3 - 16 2464 c.2292A>C c.(2290-2292)ACA>ACC p.T764T PMFBP1_uc002fcd.2_Silent_p.T759T|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.T614T|PMFBP1_uc010cgo.1_Silent_p.T55T NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 764 Potential. ovary(2) 2 Ovarian(137;0.179) GCAGGCTCTTTGTCTCTGAGG 0.483 NA OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 170 0 0 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76556036 76556036 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr16:76556036G>A uc002feu.1 + 19 3022 c.2637G>A c.(2635-2637)GTG>GTA p.V879V CNTNAP4_uc002fev.1_Silent_p.V743V|CNTNAP4_uc010chb.1_Silent_p.V806V|CNTNAP4_uc002fex.1_Silent_p.V882V NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 879 Extracellular (Potential).|Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 GGCACCATGTGAGGGTTGAAA 0.527 NA 6 120 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr17:7578457C>A uc002gim.2 - 5 667 c.473G>T c.(472-474)CGC>CTC p.R158L TP53_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 158 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCATGGCGCGGACGCGGGT 0.627 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 63 5.94e-07 6.52e-07 1 0 PGLYRP2 114770 broad.mit.edu 37 19 15587145 15587145 + Silent SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr19:15587145C>T uc002nbf.3 - 2 469 c.336G>A c.(334-336)CTG>CTA p.L112L PGLYRP2_uc002nbg.3_Silent_p.L112L NM_052890 NP_443122 Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 precursor 112 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3) 3 CATCAGGTGCCAGCACCACCC 0.617 NA 9 105 0 0 0 0 LTBP1 4052 broad.mit.edu 37 2 33567941 33567941 + Missense_Mutation SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:33567941G>A uc002ros.2 + 25 3770 c.3770G>A c.(3769-3771)AGT>AAT p.S1257N LTBP1_uc002rot.2_Missense_Mutation_p.S931N|LTBP1_uc002rou.2_Missense_Mutation_p.S930N|LTBP1_uc002rov.2_Missense_Mutation_p.S877N|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1256 EGF-like 13; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GTTTGTGACAGTCACGGGTTT 0.443 NA 6 46 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141243044 141243044 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:141243044C>T uc002tvj.1 - 59 10265 c.9293G>A c.(9292-9294)GGA>GAA p.G3098E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3098 Extracellular (Potential).|LDL-receptor class B 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGGTTTTTTCCAATCCAATC 0.373 NA TSP Lung(27;0.18) 5 35 0 0 0 0 CCDC148 130940 broad.mit.edu 37 2 159170404 159170404 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr2:159170404T>C uc002tzq.2 - 8 1030 c.767A>G c.(766-768)AAC>AGC p.N256S CCDC148_uc002tzr.2_Missense_Mutation_p.N104S|CCDC148_uc010foh.2_5'UTR|CCDC148_uc010foi.1_Missense_Mutation_p.N203S|CCDC148_uc010foj.1_Missense_Mutation_p.N104S|CCDC148_uc010fok.1_Missense_Mutation_p.N170S NM_138803 NP_620158 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 256 ovary(2) 2 TAGTTGACAGTTTCTAGAAGC 0.388 NA 4 46 0 0 0 0 CACNA1I 8911 broad.mit.edu 37 22 40059771 40059771 + Silent SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr22:40059771C>T uc003ayc.2 + 19 3522 c.3522C>T c.(3520-3522)TAC>TAT p.Y1174Y CACNA1I_uc003ayd.2_Silent_p.Y1139Y|CACNA1I_uc003aye.2_Silent_p.Y1089Y|CACNA1I_uc003ayf.2_Silent_p.Y1054Y NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1174 Helical; Name=S1 of repeat III; (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCTTCGACTACGTCGTCCTGG 0.632 NA 9 96 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39230859 39230859 + Silent SNP T T G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:39230859T>G uc003cjk.1 - 2 299 c.78A>C c.(76-78)CCA>CCC p.P26P XIRP1_uc003cji.2_Silent_p.P26P|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 26 Interaction with VASP.|Poly-Pro. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GGGCTGGGGGTGGAGGGAGGG 0.637 NA 5 13 0 0 0 0 WDR82 80335 broad.mit.edu 37 3 52304734 52304734 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:52304734T>C uc003ddl.2 - 2 535 c.253A>G c.(253-255)ATA>GTA p.I85V WDR82_uc003ddk.2_5'Flank|uc011bee.1_5'Flank|MIRLET7G_hsa-let-7g|MI0000433_5'Flank NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN WD repeat domain 82 85 histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding 0 BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TTACCGTCTATTTTGTTAGAG 0.378 NA 7 134 0 0 0 0 KPNA4 3840 broad.mit.edu 37 3 160227623 160227623 + Missense_Mutation SNP T T A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:160227623T>A uc003fdn.2 - 14 1480 c.1174A>T c.(1174-1176)ATA>TTA p.I392L NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 392 ARM 8.|NLS binding site (minor) (By similarity). NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) AAGTTACTTATGGCCCAAGCA 0.318 NA 18 137 0 0 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760908 186760908 + Silent SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr3:186760908C>T uc003frb.2 + 4 849 c.417C>T c.(415-417)GCC>GCT p.A139A ST6GAL1_uc003frc.2_Intron|ST6GAL1_uc003frd.2_Silent_p.A139A NM_173216 NP_775323 P15907 SIAT1_HUMAN ST6 beta-galactosamide 139 Lumenal (Potential). humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1) 1 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GTGCAGAGGCCCTGCGCTGCC 0.507 NA 8 52 0 0 0 0 OTOP1 133060 broad.mit.edu 37 4 4214642 4214642 + Missense_Mutation SNP T T C TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr4:4214642T>C uc003ghp.1 - 2 523 c.493A>G c.(493-495)ACT>GCT p.T165A NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 165 biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACTCCTTCAGTGGCTGATAAA 0.393 NA 5 61 0 0 0 0 GABRA2 2555 broad.mit.edu 37 4 46307679 46307679 + Silent SNP A A G TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr4:46307679A>G uc003gxc.3 - 6 1282 c.609T>C c.(607-609)TCT>TCC p.S203S GABRA2_uc010igc.2_Silent_p.S203S|GABRA2_uc011bzc.1_Silent_p.S148S|GABRA2_uc003gxe.2_Silent_p.S203S NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 203 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTACTGAATCAGATGCATTGT 0.358 NA 4 63 0 0 0 0 CDC20B 166979 broad.mit.edu 37 5 54420729 54420729 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:54420729C>T uc003jpo.1 - 9 1292 c.1117G>A c.(1117-1119)GGC>AGC p.G373S CDC20B_uc003jpn.1_Missense_Mutation_p.G373S|CDC20B_uc010ivu.1_Missense_Mutation_p.G373S|CDC20B_uc010ivv.1_3'UTR NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 373 WD 4. 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TCACTGCAGCCGCTGGAAAGC 0.567 NA 5 63 0 0 0 0 ZNF366 167465 broad.mit.edu 37 5 71739939 71739939 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:71739939C>T uc003kce.1 - 5 2065 c.1879G>A c.(1879-1881)GAG>AAG p.E627K NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGCTCCACCTCGTAGCAGTTA 0.667 NA 9 194 0 0 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182956 140182956 + Missense_Mutation SNP C C A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:140182956C>A uc003lhf.2 + 1 2174 c.2174C>A c.(2173-2175)GCG>GAG p.A725E PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A725E NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 725 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGTGCTCCGCGCCGCCAACC 0.637 NA 9 129 0.00829132 0.00877197 1 0 LAMA4 3910 broad.mit.edu 37 6 112440499 112440499 + Missense_Mutation SNP C C T TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr6:112440499C>T uc003pvu.2 - 34 4990 c.4681G>A c.(4681-4683)GAA>AAA p.E1561K LAMA4_uc003pvv.2_Missense_Mutation_p.E1554K|LAMA4_uc003pvt.2_Missense_Mutation_p.E1554K NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1561 Laminin G-like 4. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTGCTCCTTTCTCGAATAAAT 0.438 NA 6 80 0 0 0 0 TTF1 7270 broad.mit.edu 37 9 135277018 135277018 + Silent SNP G G A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr9:135277018G>A uc004cbl.2 - 2 1243 c.1191C>T c.(1189-1191)GTC>GTT p.V397V TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 397 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GTGCCCTTTTGACAGACGTAA 0.463 NA 6 94 0 0 0 0 C11orf48 79081 broad.mit.edu 37 11 62435132 62435134 + In_Frame_Del DEL TCT TCT - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr11:62435132_62435134delTCT uc001nue.2 - 4 834_836 c.399_401delAGA c.(397-402)GAAGAT>GAT p.E133del C11orf48_uc001nuf.2_In_Frame_Del_p.E133del|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_In_Frame_Del_p.E133del NM_024099 NP_077004 Q9BQE6 CK048_HUMAN hypothetical protein LOC79081 159 0 CCAACAAGCATCTTCTTCATCCT 0.537 NA 26 323 --- --- --- --- NA NA NA NA GPX2 2877 broad.mit.edu 37 14 65406461 65406462 + Frame_Shift_Del DEL CT CT - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr14:65406461_65406462delCT uc010tsn.1 - 3 404_405 c.317_318delAG c.(316-318)GAGfs p.E106fs CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA NM_002083 NP_002074 P18283 GPX2_HUMAN glutathione peroxidase 2 106 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity ovary(1) 1 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) GCCCATTCACCTCACATTTTTG 0.525 NA 7 80 --- --- --- --- NA NA NA NA AGBL1 123624 broad.mit.edu 37 15 86810224 86810224 + Frame_Shift_Del DEL T T - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr15:86810224delT uc002blz.1 + 12 1697 c.1617delT c.(1615-1617)CCTfs p.P539fs AGBL1_uc002bma.1_Frame_Shift_Del_p.P270fs|AGBL1_uc002bmb.1_Frame_Shift_Del_p.P233fs NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 539 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 ATTGTAGGCCTTTGCAAGACA 0.323 NA 2 4 --- --- --- --- NA NA NA NA STK10 6793 broad.mit.edu 37 5 171488259 171488260 + Frame_Shift_Del DEL AC AC - TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr5:171488259_171488260delAC uc003mbo.1 - 14 2395_2396 c.2095_2096delGT c.(2095-2097)GTAfs p.V699fs NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 699 Potential. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTGCTTGGCTACAAAGTCCCGG 0.584 NA 11 124 --- --- --- --- NA NA NA NA TMEM38B 55151 broad.mit.edu 37 9 108484899 108484900 + Frame_Shift_Ins INS - - A TCGA-BB-4217-01A-11D-2078-08 TCGA-BB-4217-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5916ef19-7838-4621-a869-de8c2b34931c 7a5278a1-1bf9-4dba-ade5-43dd3e0653ab g.chr9:108484899_108484900insA uc004bcu.1 + 4 656_657 c.539_540insA c.(538-540)TCAfs p.S180fs TMEM38B_uc010mtn.1_Intron NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 180 Lumenal (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 CTGAAGATGTCATAGTAAGTTG 0.342 NA 8 79 --- --- --- --- NA NA NA NA