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 GLRB 2743 broad.mit.edu 37 4 158065014 158065014 + Silent SNP C C T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr4:158065014C>T ENST00000264428.4 + 8 1077 c.807C>T c.(805-807)taC>taT p.Y269Y GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.Y269Y|GLRB_ENST00000509282.1_Silent_p.Y269Y NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 269 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) TCGGCTTTTACATGATGGGGG 0.537000 16 37 0 0 1 0 0 ERI3 79033 broad.mit.edu 37 1 44804819 44804819 + Silent SNP G G A TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr1:44804819G>A ENST00000372257.2 - 3 568 c.387C>T c.(385-387)ggC>ggT p.G129G ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron NM_024066.1 NP_076971.1 O43414 ERI3_HUMAN ERI1 exoribonuclease family member 3 129 intracellular exonuclease activity|metal ion binding|nucleic acid binding endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CCATGGATGCGCCAAAGCCGT 0.547000 5 245 0 0 1 0 0 LINC00957 0 broad.mit.edu 37 7 44080541 44080541 + RNA SNP G G A rs3099751 TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr7:44080541G>A ENST00000441052.1 + 0 1226 CTGCCGCTGCGCCCCGCACCC 0.617000 11 57 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1046705 1046705 + Missense_Mutation SNP G G T rs150247999 byFrequency TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr10:1046705G>T ENST00000360803.4 + 7 825 c.743G>T c.(742-744)cGt>cTt p.R248L GTPBP4_ENST00000538293.1_Missense_Mutation_p.R132L|GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Missense_Mutation_p.R201L NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 248 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GCCCACCTCCGTGCTGCGGTC 0.557000 10 70 7.48243e-07 9.47774e-07 1 1 0 MMD 23531 broad.mit.edu 37 17 53471782 53471782 + Silent SNP C C A TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr17:53471782C>A ENST00000262065.3 - 7 926 c.630G>T c.(628-630)ctG>ctT p.L210L NM_012329.2 NP_036461.2 Q15546 PAQRB_HUMAN monocyte to macrophage differentiation-associated 210 cytolysis integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction receptor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 TGGCCACAAACAGGTGCCAGA 0.478000 4 148 1 1 1 1 0 MARK3 4140 broad.mit.edu 37 14 103958164 103958164 + Missense_Mutation SNP G G T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr14:103958164G>T ENST00000429436.2 + 15 2147 c.1637G>T c.(1636-1638)aGt>aTt p.S546I MARK3_ENST00000553942.1_Missense_Mutation_p.S546I|MARK3_ENST00000440884.3_Missense_Mutation_p.S467I|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.S569I|MARK3_ENST00000335102.5_Missense_Mutation_p.S569I|MARK3_ENST00000303622.9_Missense_Mutation_p.S546I|MARK3_ENST00000216288.7_Missense_Mutation_p.S530I NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 546 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) AGTATCAGTAGTGCAGCCACC 0.488000 22 58 4.54149e-19 6.16344e-19 1 1 0 PRDM7 11105 broad.mit.edu 37 16 90126908 90126908 + Silent SNP C C G TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr16:90126908C>G ENST00000449207.2 - 9 1093 c.1074G>C c.(1072-1074)ggG>ggC p.G358G PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 358 SET. chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CATACTCATCCCCAGACCAGA 0.532000 15 61 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168096871 168096871 + Missense_Mutation SNP T T C TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr5:168096871T>C ENST00000519560.1 - 35 4672 c.4253A>G c.(4252-4254)cAc>cGc p.H1418R SLIT3_ENST00000332966.8_Missense_Mutation_p.H1425R|SLIT3_ENST00000404867.3_Missense_Mutation_p.H1418R NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1418 EGF-like 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGCCCATGGTGACACTTGAA 0.577000 10 33 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr1:169510502G>T ENST00000367796.3 - 13 4042 c.3841C>A c.(3841-3843)Ctt>Att p.L1281I F5_ENST00000367797.3_Missense_Mutation_p.L1276I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1276 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGGAGAAAGGGGCATCTGA 0.502000 7 366 2.0095e-06 2.38628e-06 1 1 0 MAMLD1 10046 broad.mit.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chrX:149639635A>T ENST00000370401.2 + 4 2100 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 597 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TTgcagctgcagcagcagcag 0.607000 4 159 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32407029 32407029 + Silent SNP A A T rs139769264 TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr5:32407029A>T ENST00000265069.8 - 6 984 c.882T>A c.(880-882)gcT>gcA p.A294A NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 294 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding p.A294A(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) cagcagcagcagctgctgctg 0.483000 3 43 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61959155 61959155 + Missense_Mutation SNP C C T rs148779841 TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr17:61959155C>T ENST00000332800.7 - 1 140 c.7G>A c.(7-9)Gca>Aca p.A3T GH2_ENST00000456543.2_Missense_Mutation_p.A3T|GH2_ENST00000449787.2_Missense_Mutation_p.A3T|GH2_ENST00000423893.2_Missense_Mutation_p.A3T NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 3 extracellular region hormone activity p.A3T(2) breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 CGCTTACCTGCAGCCATTGCC 0.597000 4 59 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103596143 103596143 + Silent SNP C C T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr14:103596143C>T ENST00000560869.1 + 4 1566 c.927C>T c.(925-927)ccC>ccT p.P309P TNFAIP2_ENST00000333007.1_Silent_p.P309P|TNFAIP2_ENST00000451723.2_Intron Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 309 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) GCCTCCTGCCCCCCAGGCAGA 0.652000 18 33 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20327340 20327340 + Missense_Mutation SNP C C T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr16:20327340C>T ENST00000302555.5 - 9 1588 c.1439G>A c.(1438-1440)cGc>cAc p.R480H GP2_ENST00000381360.5_Missense_Mutation_p.R336H|GP2_ENST00000381362.4_Missense_Mutation_p.R483H|GP2_ENST00000341642.5_Missense_Mutation_p.R333H P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 483 ZP. anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TACTTCACTGCGGACTTGACT 0.488000 4 72 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418145 105418145 + Missense_Mutation SNP G G A TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr14:105418145G>A ENST00000333244.5 - 7 3762 c.3643C>T c.(3643-3645)Ccc>Tcc p.P1215S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1215 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCGGAAGGGGGCTGAATGCTG 0.647000 3 3 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65888050 65888050 + Missense_Mutation SNP C C A TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr17:65888050C>A ENST00000321892.4 + 7 2394 c.2333C>A c.(2332-2334)aCc>aAc p.T778N BPTF_ENST00000424123.3_Missense_Mutation_p.T639N|BPTF_ENST00000335221.5_Missense_Mutation_p.T778N|BPTF_ENST00000306378.6_Missense_Mutation_p.T652N Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 778 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CGAATCATCACCAGATTGCGG 0.473000 5 39 0.014758 0.0151569 1 1 0 PCNX 22990 broad.mit.edu 37 14 71443799 71443799 + Missense_Mutation SNP C C T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr14:71443799C>T ENST00000304743.2 + 6 1191 c.745C>T c.(745-747)Cac>Tac p.H249Y PCNX_ENST00000439984.3_Missense_Mutation_p.H249Y|PCNX_ENST00000238570.5_Missense_Mutation_p.H249Y NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 249 Poly-His. integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TAACCACCACCACCATGTTGA 0.493000 5 48 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549601 102549601 + Nonsense_Mutation SNP C C A TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr14:102549601C>A ENST00000334701.7 - 10 2172 c.1891G>T c.(1891-1893)Gaa>Taa p.E631* HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E509*|HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E330* NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 509 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) CGAAGACGTTCCACAAAGGCT 0.413000 32 113 9.80977e-26 1.38063e-25 1 1 0 OR5M3 219482 broad.mit.edu 37 11 56237418 56237418 + Missense_Mutation SNP C C G TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr11:56237418C>G ENST00000312240.2 - 1 596 c.556G>C c.(556-558)Gcc>Ccc p.A186P NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CCAGCACAGGCCATTTTGATG 0.398000 13 172 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263327 263327 + Silent SNP C C T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr17:263327C>T ENST00000360127.6 + 2 709 c.693C>T c.(691-693)gcC>gcT p.A231A C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 231 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 ACCCCGAGGCCCTCAAGGGCT 0.721000 4 41 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 5 221 2.0095e-06 2.38628e-06 1 1 0 AC024560.3 0 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 115 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871049 170871049 + Silent SNP G G A rs10592951 TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr6:170871049G>A ENST00000392092.2 + 3 504 c.225G>A c.(223-225)caG>caA p.Q75Q TBP_ENST00000540980.1_Silent_p.Q55Q|TBP_ENST00000230354.6_Silent_p.Q75Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 75 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q75Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacagcaacagcagcagcagc 0.567000 5 61 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 22 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921558 130921558 + Missense_Mutation SNP G G T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr12:130921558G>T ENST00000261655.4 - 10 2047 c.1884C>A c.(1882-1884)agC>agA p.S628R RIMBP2_ENST00000536002.1_Missense_Mutation_p.S536R|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S536R NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 628 Pro-rich. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CAGGTGCACGGCTCTGCTCCC 0.662000 13 22 4.3838e-07 5.74429e-07 1 1 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276879 71276879 + Silent SNP G G T rs36179995 TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr11:71276879G>T ENST00000398531.1 + 1 271 c.246G>T c.(244-246)ggG>ggT p.G82G KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 82 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GCTCCAAAGGGGGCTGTGGTT 0.682000 6 291 0.00307968 0.00344199 1 1 0 MLTK 0 broad.mit.edu 37 2 174086201 174086201 + Silent SNP C C T TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr2:174086201C>T ENST00000338983.3 + 12 1506 c.1311C>T c.(1309-1311)gaC>gaT p.D437D MLTK_ENST00000539448.1_Silent_p.D437D|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Intron|MLTK_ENST00000431503.2_Silent_p.D336D|MLTK_ENST00000375213.3_Intron NM_133646.2 NP_598407.1 CAGAAGGtgacgatgatgatg 0.403000 5 38 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 25 111 --- --- --- --- RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 2 4 --- --- --- --- NEK10 152110 broad.mit.edu 37 3 27343258 27343258 + Frame_Shift_Del DEL A A - TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr3:27343258delA ENST00000429845.2 - 14 1459 c.1097delT c.(1096-1098)acfs p.I366fs NEK10_ENST00000341435.5_Frame_Shift_Del_p.I366fs Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 366 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAGCTGCTGGATTCGGCCTGC 0.373 2 4 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 7 15 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 5 2 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 5 7 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + RNA DEL C C - rs11353848 TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr7:149518533delC ENST00000378016.2 + 0 12602 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 3 3 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 14 1 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 7 57 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25456925 25456925 + RNA DEL G G - TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr15:25456925delG ENST00000424208.1 + 0 2516 SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA NR_003305.1 TGTGTGGGCAGGGGGGGTGCC 0.557 8 328 --- --- --- --- ATP2A1 487 broad.mit.edu 37 16 28913640 28913640 + Frame_Shift_Del DEL C C - TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr16:28913640delC ENST00000395503.4 + 17 2641 c.2457delC c.(2455-2457)cgfs p.R819fs ATP2A1_ENST00000536376.1_Frame_Shift_Del_p.R694fs|ATP2A1_ENST00000357084.3_Frame_Shift_Del_p.R819fs NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 819 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 TCATGGACCGCCCCCCCCGGA 0.657 7 235 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 13 46 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-KS-A4ID-01A-11D-A257-08 TCGA-KS-A4ID-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx fcd021c0-b1e1-4e31-aad2-7bcaf13a9ea2 e4dd2de0-cdf9-4083-80cc-d5c82f02aa2d g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del|FAM98C_ENST00000588262.1_3'UTR NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 16 101 --- --- --- ---