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 ABCA3 21 broad.mit.edu 37 16 2358593 2358593 + Silent SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr16:2358593G>A ENST00000301732.5 - 11 1843 c.1143C>T c.(1141-1143)ctC>ctT p.L381L ABCA3_ENST00000382381.3_Intron NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 381 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGAAGAAGTAGAGGAAGCCTC 0.602000 17 67 0 0 0.007413 0 0 B3GNT5 84002 broad.mit.edu 37 3 182988119 182988119 + Nonsense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:182988119G>A ENST00000326505.3 + 2 1063 c.533G>A c.(532-534)tGg>tAg p.W178* B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W178*|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 178 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CAGTTCAGTTGGGCAAATACC 0.343000 32 95 0 0 0.001786 0 0 MYOCD 93649 broad.mit.edu 37 17 12656261 12656261 + Silent SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr17:12656261G>A ENST00000425538.1 + 10 1856 c.1656G>A c.(1654-1656)caG>caA p.Q552Q MYOCD_ENST00000343344.4_Silent_p.Q552Q|MYOCD_ENST00000395988.1_Silent_p.Q456Q NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 552 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TTCAGAAGCAGAAAAGGAATA 0.522000 7 51 0 0 0.003080 0 0 SMARCC2 6601 broad.mit.edu 37 12 56571852 56571852 + Missense_Mutation SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr12:56571852G>C ENST00000394023.3 - 15 1441 c.1336C>G c.(1336-1338)Ctc>Gtc p.L446V RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.L446V|SMARCC2_ENST00000550164.1_Missense_Mutation_p.L446V|SMARCC2_ENST00000267064.4_Missense_Mutation_p.L446V NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 446 SWIRM. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) AACTCGGGGAGAGCCCTCCGC 0.512000 7 30 0 0 0.003080 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 4 275 0 0 0.000248 0 0 TMTC2 160335 broad.mit.edu 37 12 83289743 83289743 + Silent SNP C C T rs143764076 TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr12:83289743C>T ENST00000549919.1 + 4 2588 c.783C>T c.(781-783)ctC>ctT p.L261L TMTC2_ENST00000548305.1_Silent_p.L267L|TMTC2_ENST00000321196.3_Silent_p.L267L Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 267 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 ACAGCCTCCTCACCCGCACTC 0.532000 35 160 0 0 0.004878 0 0 ANKRD44 91526 broad.mit.edu 37 2 197975514 197975514 + Missense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr2:197975514G>A ENST00000328737.2 - 9 962 c.886C>T c.(886-888)Cgg>Tgg p.R296W ANKRD44_ENST00000337207.5_Missense_Mutation_p.R296W|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R249W|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R296W|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R313W|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R321W|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R321W Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 321 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTCTGTGACCGTGTGAACCTT 0.428000 5 210 0 0 0.001168 0 0 FZD1 8321 broad.mit.edu 37 7 90894813 90894813 + Silent SNP C C A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr7:90894813C>A ENST00000287934.2 + 1 1031 c.618C>A c.(616-618)ggC>ggA p.G206G NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 206 FZ. autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) ACAAGTTCGGCTTCCAGTGGC 0.701000 16 56 1.15088e-07 2.30175e-07 0.004007 1 0 EHD1 10938 broad.mit.edu 37 11 64622296 64622296 + Missense_Mutation SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr11:64622296G>C ENST00000320631.3 - 5 1368 c.1114C>G c.(1114-1116)Cag>Gag p.Q372E EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.Q372E NM_006795.2 NP_006786.2 Q9H4M9 EHD1_HUMAN EH-domain containing 1 372 blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 12 TTCAGCGCCTGGAACTTGCTG 0.642000 57 209 0 0 0.003610 0 0 PAN3 255967 broad.mit.edu 37 13 28851441 28851441 + Missense_Mutation SNP A A G TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr13:28851441A>G ENST00000399613.1 + 14 1580 c.1517A>G c.(1516-1518)cAg>cGg p.Q506R PAN3_ENST00000380958.3_Missense_Mutation_p.Q706R|PAN3_ENST00000282391.5_Missense_Mutation_p.Q394R Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 706 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) GCAGGAATTCAGCGAGAGAAT 0.338000 3 109 0 0 0.000248 0 0 ITGB1 3688 broad.mit.edu 37 10 33200886 33200886 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr10:33200886C>T ENST00000396033.2 - 12 1771 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K ITGB1_ENST00000374956.4_Missense_Mutation_p.E546K|ITGB1_ENST00000302278.3_Missense_Mutation_p.E546K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E546K NM_133376.2 NP_596867.1 P05556 ITB1_HUMAN integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) 546 Cysteine-rich tandem repeats. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Ovarian(717;1.34e-05)|Breast(68;0.0634) GAATAAATTTCATTTGTATTA 0.403000 21 106 0 0 0.001523 0 0 ZNF236 7776 broad.mit.edu 37 18 74625777 74625777 + Missense_Mutation SNP A A G TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr18:74625777A>G ENST00000253159.8 + 18 3176 c.2978A>G c.(2977-2979)aAg>aGg p.K993R ZNF236_ENST00000320610.9_Missense_Mutation_p.K995R NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 993 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) ACCGGGGAAAAGCCCTACAAG 0.517000 3 111 0 0 0.004672 0 0 CNTRL 11064 broad.mit.edu 37 9 123927267 123927267 + Missense_Mutation SNP T T A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr9:123927267T>A ENST00000373855.1 + 35 5730 c.5470T>A c.(5470-5472)Tta>Ata p.L1824I CNTRL_ENST00000373850.1_Missense_Mutation_p.L1272I|CNTRL_ENST00000238341.5_Missense_Mutation_p.L1824I|CNTRL_ENST00000373845.2_3'UTR Q7Z7A1 CNTRL_HUMAN centriolin 1824 cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GCAATCAAACTTAGAAAAGTT 0.398000 4 76 0 0 0.000248 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 80 0 0 0.004672 0 0 GPC5 2262 broad.mit.edu 37 13 92345516 92345516 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr13:92345516C>T ENST00000377067.3 + 3 773 c.401C>T c.(400-402)gCc>gTc p.A134V NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 134 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AGGAACATGGCCTTGGAGGCT 0.403000 20 84 0 0 0.001523 0 0 TNFSF4 7292 broad.mit.edu 37 1 173155920 173155920 + Missense_Mutation SNP T T C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr1:173155920T>C ENST00000281834.3 - 3 423 c.287A>G c.(286-288)aAc>aGc p.N96S TNFSF4_ENST00000367718.1_Missense_Mutation_p.N46S NM_003326.3 NP_003317.1 P23510 TNFL4_HUMAN tumor necrosis factor (ligand) superfamily, member 4 96 acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation cell surface|extracellular space|integral to plasma membrane cytokine activity breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1) 12 CCCATCACAGTTGATGATGAC 0.458000 21 69 0 0 0.001882 0 0 ARSK 153642 broad.mit.edu 37 5 94918766 94918766 + Missense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr5:94918766G>A ENST00000380009.4 + 4 768 c.563G>A c.(562-564)aGa>aAa p.R188K NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 188 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) AACTGGTTAAGAAAGGAAGCA 0.388000 24 64 0 0 0.003330 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43651086 43651086 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr10:43651086C>T ENST00000374466.3 + 2 824 c.489C>T c.(487-489)ctC>ctT p.L163L CSGALNACT2_ENST00000374464.1_Silent_p.L163L NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 163 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAATGGGTCTCACTCGCCATC 0.413000 14 65 0 0 0.003163 0 0 OR4D9 390199 broad.mit.edu 37 11 59283197 59283197 + Missense_Mutation SNP T T A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr11:59283197T>A ENST00000329328.3 + 1 812 c.812T>A c.(811-813)aTc>aAc p.I271N NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 GACACTGCCATCTCTGTCACC 0.532000 45 207 0 0 0.002222 0 0 STAR 6770 broad.mit.edu 37 8 38005733 38005733 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr8:38005733C>T ENST00000276449.4 - 3 737 c.291G>A c.(289-291)aaG>aaA p.K97K NM_000349.2 NP_000340.2 P49675 STAR_HUMAN steroidogenic acute regulatory protein 97 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) GACTCTCCTTCTTCCAGCCCT 0.557000 9 33 0 0 0.006214 0 0 MB21D1 115004 broad.mit.edu 37 6 74161389 74161389 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr6:74161389C>T ENST00000370315.3 - 1 610 c.516G>A c.(514-516)ttG>ttA p.L172L MB21D1_ENST00000370318.1_Silent_p.L172L NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 172 central_nervous_system(1)|large_intestine(4)|lung(1) 6 GGCTGAGCTTCAACTTCTCCA 0.667000 5 26 0 0 0.001168 0 0 KIF15 56992 broad.mit.edu 37 3 44839336 44839336 + Missense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:44839336G>A ENST00000326047.4 + 10 1135 c.986G>A c.(985-987)gGa>gAa p.G329E NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 329 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GATTCCCTTGGAGGTAATGCC 0.403000 27 74 0 0 0.005443 0 0 VWA7 80737 broad.mit.edu 37 6 31741165 31741165 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr6:31741165C>T ENST00000375686.3 - 6 1008 c.771G>A c.(769-771)ccG>ccA p.P257P VWA7_ENST00000447450.1_Silent_p.P257P|VWA7_ENST00000467576.1_Intron|VWA7_ENST00000375688.4_Silent_p.P257P NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 257 extracellular region TGCCTCCCCTCGGTGGCTGGG 0.602000 5 20 0 0 0.000602 0 0 BFSP2 8419 broad.mit.edu 37 3 133185795 133185795 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:133185795C>T ENST00000302334.2 + 5 1104 c.1015C>T c.(1015-1017)Cgt>Tgt p.R339C BFSP2_ENST00000511434.1_3'UTR NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 339 Rod. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 AGAATCCTTACGTGCCCTGGT 0.517000 16 54 0 0 0.004990 0 0 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr1:158592861G>A ENST00000368148.3 - 43 6212 c.6032C>T c.(6031-6033)gCc>gTc p.A2011V SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2011 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.A2011V(6) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483000 8 487 0 0 0.004482 0 0 MAP4K4 9448 broad.mit.edu 37 2 102450904 102450904 + Missense_Mutation SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr2:102450904G>C ENST00000413150.2 + 8 728 c.673G>C c.(673-675)Gag>Cag p.E225Q MAP4K4_ENST00000350198.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E205Q|MAP4K4_ENST00000347699.4_Missense_Mutation_p.E225Q|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E225Q|MAP4K4_ENST00000302217.5_Intron NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 225 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TACAGCCATTGAGATGGCAGA 0.408000 4 21 0 0 0.000248 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 50 0 0 0.000248 0 0 TRIML1 339976 broad.mit.edu 37 4 189060832 189060832 + Silent SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr4:189060832C>T ENST00000332517.3 + 1 260 c.120C>T c.(118-120)ctC>ctT p.L40L NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 40 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGGTGTGTCTCCTCAGGAGCT 0.547000 67 234 0 0 0.003610 0 0 GOPC 57120 broad.mit.edu 37 6 117900212 117900212 + Silent SNP G G A TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr6:117900212G>A ENST00000535237.1 - 2 530 c.301C>T c.(301-303)Ctg>Ttg p.L101L GOPC_ENST00000368498.2_Silent_p.L101L|GOPC_ENST00000052569.6_Silent_p.L101L golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TCAGATTTCAGATCCACCAAC 0.348000 O ROS1 glioblastoma 13 41 0 0 0.001855 0 0 LINC00969 0 broad.mit.edu 37 3 195400822 195400822 + RNA SNP G G A rs56170658 by1000genomes TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:195400822G>A ENST00000445430.1 + 0 1418 GTCTGGTCAGGCATGTGCCCT 0.572000 4 55 0 0 0.000248 0 0 NUBP1 4682 broad.mit.edu 37 16 10855244 10855244 + Silent SNP G G C TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr16:10855244G>C ENST00000283027.5 + 8 649 c.630G>C c.(628-630)cgG>cgC p.R210R TVP23A_ENST00000572980.1_5'UTR|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.R199R NM_002484.2 NP_002475.2 P53384 NUBP1_HUMAN nucleotide binding protein 1 210 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding large_intestine(2)|lung(3)|ovary(1)|skin(4) 10 AGGATGTCCGGAAAGAAATCA 0.537000 19 47 0 0 0.007413 0 0 NIPAL3 57185 broad.mit.edu 37 1 24785395 24785395 + Missense_Mutation SNP C C T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr1:24785395C>T ENST00000003912.3 + 10 1260 c.545C>T c.(544-546)tCa>tTa p.S182L NIPAL3_ENST00000339255.2_Missense_Mutation_p.S264L|NIPAL3_ENST00000374399.4_Missense_Mutation_p.S264L Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 264 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 AGTCAAGCCTCACAGATGTAC 0.468000 17 58 0 0 0.004990 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 6 5 --- --- --- --- AC018737.1 0 broad.mit.edu 37 2 122415991 122415992 + RNA INS - - T TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr2:122415991_122415992insT ENST00000419902.1 + 0 497 NR_037857.1 caaactaTTTCTTTTTTTTCCA 0.342 2 4 --- --- --- --- RP11-615J4.3 0 broad.mit.edu 37 3 111197863 111197868 + RNA DEL CACACA CACACA - rs71968470 TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr3:111197863_111197868delCACACA ENST00000497896.1 - 0 208 CGAACAGCCTcacacacacacacaca 0.544 3 2 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 3 3 --- --- --- --- CTB-147C22.9 0 broad.mit.edu 37 19 51478657 51478657 + RNA DEL T T - rs71185783 TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chr19:51478657delT ENST00000594512.1 + 0 297 gaggggctggtggggggggtt 0.687 3 4 --- --- --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72445954 TCGA-BJ-A28Z-01A-11D-A16O-08 TCGA-BJ-A28Z-10A-01D-A16O-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbeaafa1-9d03-47c5-a48a-38fda6ed7840 d8cee918-54f1-448a-8a91-c78d9b645ae3 g.chrX:38079976_38079978delGCA ENST00000378533.3 - 1 174_176 c.68_70delTGC c.(67-72)cgc>c p.LR23del SRPX_ENST00000343800.6_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane p.L23delL(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 GGCGGGACGCgcagcagcagcag 0.729 OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 8 --- --- --- ---