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 PRDM2 7799 broad.mit.edu 37 1 14142940 14142940 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr1:14142940G>A uc001avi.2 + 9 5911 c.5055G>A c.(5053-5055)GCG>GCA p.A1685A PRDM2_uc001avg.2_Missense_Mutation_p.R177H|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1685 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TCCGCTTGGCGTCCCGATGCT 0.587 HIVEP3 59269 broad.mit.edu 37 1 42047175 42047175 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr1:42047175G>A uc001cgz.3 - 4 4507 c.3294C>T c.(3292-3294)CCC>CCT p.P1098P HIVEP3_uc001cha.3_Silent_p.P1098P|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 1098 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGCCTCCCGGGGGTCCACCAT 0.612 INSRR 3645 broad.mit.edu 37 1 156816537 156816537 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr1:156816537G>A uc010pht.1 - 8 1838 c.1584C>T c.(1582-1584)AAC>AAT p.N528N NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 528 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCTCTGTGGCGTTCTGGAATG 0.617 LRRN2 10446 broad.mit.edu 37 1 204587773 204587773 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr1:204587773C>T uc001hbe.1 - 3 1736 c.1348G>A c.(1348-1350)GAA>AAA p.E450K MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.E450K|LRRN2_uc009xbf.1_Missense_Mutation_p.E450K|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 450 Ig-like C2-type.|Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGTTCGGGTTCGGCCAGTGCC 0.642 SLK 9748 broad.mit.edu 37 10 105777982 105777982 + Missense_Mutation SNP A A C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr10:105777982A>C uc001kxo.1 + 14 2976 c.2942A>C c.(2941-2943)CAG>CCG p.Q981P SLK_uc001kxp.1_Missense_Mutation_p.Q950P NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 981 Potential. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ATCATCCAGCAGCAGAAGGCA 0.338 TSSC4 10078 broad.mit.edu 37 11 2424220 2424220 + Silent SNP C C T rs142339475 TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:2424220C>T uc001lwj.2 + 4 718 c.357C>T c.(355-357)AAC>AAT p.N119N TSSC4_uc001lwi.2_Silent_p.N55N|TSSC4_uc001lwk.2_Silent_p.N119N|TSSC4_uc001lwl.2_Silent_p.N119N NM_005706 NP_005697 Q9Y5U2 TSSC4_HUMAN tumor suppressing subtransferable candidate 4 119 0 all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAGTGACAACGGAGGCTTCA 0.682 UBQLN3 50613 broad.mit.edu 37 11 5530122 5530122 + Missense_Mutation SNP A A G TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:5530122A>G uc001may.1 - 2 753 c.667T>C c.(667-669)TTT>CTT p.F223L HBG2_uc001mak.1_Intron NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 223 ovary(3) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTACGTAAAAACTCCAGTGTC 0.507 SCUBE2 57758 broad.mit.edu 37 11 9069615 9069615 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:9069615C>T uc001mhh.1 - 14 1663 c.1583G>A c.(1582-1584)CGC>CAC p.R528H SCUBE2_uc001mhi.1_Missense_Mutation_p.R557H|SCUBE2_uc001mhj.1_Intron NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 528 extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GTTTACGTAGCGGAAGCTCTC 0.473 OR5R1 219479 broad.mit.edu 37 11 56184809 56184809 + Silent SNP G G C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:56184809G>C uc010rji.1 - 1 900 c.900C>G c.(898-900)GCC>GCG p.A300A NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CTTTCTTTGAGGCATCTTTCA 0.333 SERPING1 710 broad.mit.edu 37 11 57373905 57373905 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:57373905C>T uc001nkp.1 + 6 1105 c.914C>T c.(913-915)CCC>CTC p.P305L SERPING1_uc001nkq.1_Missense_Mutation_p.P305L|SERPING1_uc010rju.1_Missense_Mutation_p.P253L|SERPING1_uc010rjv.1_Missense_Mutation_p.P310L|SERPING1_uc001nkr.1_Missense_Mutation_p.P305L|SERPING1_uc009ymi.1_Missense_Mutation_p.P314L|SERPING1_uc009ymj.1_Missense_Mutation_p.P305L|SERPING1_uc001nks.1_5'UTR NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 305 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 ACATTTGATCCCAAGAAAACC 0.438 Hereditary_Angioedema GRM5 2915 broad.mit.edu 37 11 88583181 88583181 + Missense_Mutation SNP C C A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:88583181C>A uc001pcq.2 - 2 1004 c.804G>T c.(802-804)TTG>TTT p.L268F GRM5_uc009yvm.2_Missense_Mutation_p.L268F NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 268 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGGCCTTGGGCAAGTGACTTG 0.552 SPA17 53340 broad.mit.edu 37 11 124551345 124551345 + Missense_Mutation SNP A A G TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:124551345A>G uc001qap.2 + 3 351 c.215A>G c.(214-216)CAT>CGT p.H72R NM_017425 NP_059121 Q15506 SP17_HUMAN sperm autoantigenic protein 17 72 binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) TATAACAATCATGCATTCGAG 0.363 SLC6A13 6540 broad.mit.edu 37 12 333238 333238 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr12:333238G>A uc001qic.1 - 11 1284 c.1231C>T c.(1231-1233)CGC>TGC p.R411C SLC6A13_uc009zdj.1_Missense_Mutation_p.R401C|SLC6A13_uc010sdl.1_Missense_Mutation_p.R319C NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 411 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TTCTTCTTGCGGAACACGTGA 0.572 FKBP3 2287 broad.mit.edu 37 14 45603647 45603647 + Missense_Mutation SNP C C G TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr14:45603647C>G uc010tqf.1 - 1 86 c.13G>C c.(13-15)GTT>CTT p.V5L FANCM_uc001wwc.2_5'Flank|FANCM_uc001wwd.3_5'Flank|FANCM_uc010anf.2_5'Flank NM_002013 NP_002004 Q00688 FKBP3_HUMAN FK506 binding protein 3, 25kDa 5 protein folding membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity 0 CGCTGTGGAACGGCCGCCGCC 0.667 PNMA1 9240 broad.mit.edu 37 14 74179980 74179980 + Silent SNP A A G TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr14:74179980A>G uc001xor.1 - 1 1149 c.363T>C c.(361-363)CGT>CGC p.R121R NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN paraneoplastic antigen MA1 121 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) acccaaggacacgggcaacat 0 RHBDF1 64285 broad.mit.edu 37 16 112868 112868 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr16:112868G>A uc002cfl.3 - 9 848 c.700C>T c.(700-702)CGC>TGC p.R234C RHBDF1_uc010uty.1_Missense_Mutation_p.R257C|RHBDF1_uc010utz.1_Missense_Mutation_p.R234C|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 234 Cytoplasmic (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) TGTGCCCGGCGAAAGGTGCCA 0.637 ZSCAN10 84891 broad.mit.edu 37 16 3140332 3140332 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr16:3140332C>T uc002ctv.1 - 5 1026 c.938G>A c.(937-939)CGC>CAC p.R313H ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R231H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R241H NM_032805 NP_116194 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 313 C2H2-type 1. negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CGGGTGCGAGCGCAGCTGGTG 0.667 SALL1 6299 broad.mit.edu 37 16 51174200 51174200 + Missense_Mutation SNP G G C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr16:51174200G>C uc010vgs.1 - 2 1964 c.1933C>G c.(1933-1935)CCA>GCA p.P645A SALL1_uc010vgr.1_Missense_Mutation_p.P548A|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 645 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCTGCCGCTGGGGAGCTCAGG 0.627 CDH8 1006 broad.mit.edu 37 16 61687818 61687818 + Missense_Mutation SNP C C A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr16:61687818C>A uc002eog.1 - 12 2346 c.2094G>T c.(2092-2094)AAG>AAT p.K698N NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 698 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTTTAATATCCTTACGGGGTA 0.423 MINK1 50488 broad.mit.edu 37 17 4794803 4794803 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr17:4794803G>A uc010vsl.1 + 16 1989 c.1793G>A c.(1792-1794)CGA>CAA p.R598Q MINK1_uc010vsk.1_Missense_Mutation_p.R598Q|MINK1_uc010vsm.1_Intron|MINK1_uc010vsn.1_Missense_Mutation_p.R598Q|MINK1_uc010vso.1_Missense_Mutation_p.R543Q|MINK1_uc010vsp.1_Missense_Mutation_p.R88Q NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 598 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 CCTGTACCCCGATCCCAGTCC 0.672 GLP2R 9340 broad.mit.edu 37 17 9792816 9792816 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr17:9792816G>A uc002gmd.1 + 13 1456 c.1456G>A c.(1456-1458)GGC>AGC p.G486S NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 486 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) GGAAGGAGATGGCGCTGAGAA 0.607 PTRF 284119 broad.mit.edu 37 17 40556837 40556837 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr17:40556837G>A uc002hzo.2 - 2 1200 c.1041C>T c.(1039-1041)GAC>GAT p.D347D PTRF_uc010wgi.1_Silent_p.D329D NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 347 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CCTCGTCGTCGTCGGCGCCCA 0.706 SKAP1 8631 broad.mit.edu 37 17 46262101 46262101 + Missense_Mutation SNP T T C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr17:46262101T>C uc002ini.1 - 7 663 c.551A>G c.(550-552)GAT>GGT p.D184G SKAP1_uc002inj.1_Missense_Mutation_p.D184G|SKAP1_uc010dbd.1_Missense_Mutation_p.D90G|SKAP1_uc010dbe.1_Missense_Mutation_p.D184G NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 184 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 GCTGCGCCTATCCTGGGAGGT 0.522 PRPSAP1 5635 broad.mit.edu 37 17 74309056 74309056 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr17:74309056C>T uc010wta.1 - 9 1340 c.894G>A c.(892-894)GCG>GCA p.A298A PRPSAP1_uc010wtb.1_Silent_p.A195A NM_002766 NP_002757 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate 269 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity ovary(1) 1 TCAGGATCTCCGCGGCAGCAA 0.522 KIAA0802 23255 broad.mit.edu 37 18 8784659 8784659 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr18:8784659G>A uc002knr.2 + 6 1691 c.1549G>A c.(1549-1551)GCC>ACC p.A517T KIAA0802_uc002knq.2_Missense_Mutation_p.A517T|KIAA0802_uc010dkw.1_Missense_Mutation_p.A355T NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 868 0 GACCATCAACGCCAAGATGAA 0.652 NFIC 4782 broad.mit.edu 37 19 3452579 3452579 + Missense_Mutation SNP G G A rs140170107 TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:3452579G>A uc010xhi.1 + 8 1246 c.1184G>A c.(1183-1185)CGC>CAC p.R395H NFIC_uc002lxo.2_Missense_Mutation_p.R386H|NFIC_uc010xhh.1_Missense_Mutation_p.R386H|NFIC_uc002lxp.2_Missense_Mutation_p.R395H|NFIC_uc010xhj.1_Missense_Mutation_p.R395H NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 395 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) ACGGCCATCCGCTACCCACCT 0.662 NPHS1 4868 broad.mit.edu 37 19 36322010 36322010 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:36322010C>T uc002oby.2 - 27 3426 c.3426G>A c.(3424-3426)CTG>CTA p.L1142L NPHS1_uc010eem.1_RNA NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1142 Cytoplasmic (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGAAGTCCCTCAGGGAGCGGT 0.587 PSG7 5676 broad.mit.edu 37 19 43433795 43433795 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:43433795C>T uc002ovl.3 - 4 610 c.508G>A c.(508-510)GAT>AAT p.D170N PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_5'Flank|PSG7_uc002out.1_5'UTR|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.D48N NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 170 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) GTCTCAGGATCACAGGTTAAA 0.527 IRGQ 126298 broad.mit.edu 37 19 44097366 44097366 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:44097366G>A uc002oww.2 - 2 802 c.684C>T c.(682-684)GCC>GCT p.A228A IRGQ_uc010eiv.2_Silent_p.A228A NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 228 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) TGCCAGCCACGGCCAGGTCTA 0.687 ZNF432 9668 broad.mit.edu 37 19 52538109 52538109 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:52538109G>A uc002pyk.2 - 5 1141 c.823C>T c.(823-825)CGT>TGT p.R275C NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 275 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) TCAATCAGACGGCTCTTCATA 0.393 ZNF480 147657 broad.mit.edu 37 19 52817468 52817468 + Missense_Mutation SNP C C G TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:52817468C>G uc010ydl.1 + 3 205 c.135C>G c.(133-135)GAC>GAG p.D45E ZNF480_uc002pyv.2_Intron|ZNF480_uc010ydm.1_Missense_Mutation_p.D45E|ZNF480_uc010epn.2_Intron|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) AATGCCTGGACCCTGCACAGA 0.502 ZNF468 90333 broad.mit.edu 37 19 53344459 53344459 + Missense_Mutation SNP A A G TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:53344459A>G uc002qaf.2 - 4 1239 c.1088T>C c.(1087-1089)GTT>GCT p.V363A ZNF468_uc002qae.2_Missense_Mutation_p.V310A NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 363 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) TCGATTAAAAACTTTGCCACA 0.378 ZNF347 84671 broad.mit.edu 37 19 53644778 53644778 + Missense_Mutation SNP C C T rs146644074 TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:53644778C>T uc002qbb.1 - 5 1372 c.1303G>A c.(1303-1305)GGC>AGC p.G435S ZNF347_uc010eql.1_Missense_Mutation_p.G436S|ZNF347_uc002qbc.1_Missense_Mutation_p.G436S NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 435 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AAGGCTTTGCCGCACTCATTA 0.428 ZNF470 388566 broad.mit.edu 37 19 57088331 57088331 + Silent SNP G G T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr19:57088331G>T uc002qnl.3 + 6 1210 c.534G>T c.(532-534)GGG>GGT p.G178G ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ACAAATCTGGGACAGTTTTTC 0.313 NEB 4703 broad.mit.edu 37 2 152385745 152385745 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr2:152385745G>A uc010fnx.2 - 118 16802 c.16611C>T c.(16609-16611)GAC>GAT p.D5537D NEB_uc002txr.2_Silent_p.D1960D|NEB_uc002txt.3_Silent_p.D42D NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5537 Nebulin 151. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTTTGTAGGCGTCCTTGGCTG 0.438 TTN 7273 broad.mit.edu 37 2 179587650 179587650 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr2:179587650C>T uc010zfg.1 - 73 18468 c.18244G>A c.(18244-18246)GTT>ATT p.V6082I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V2743I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7009 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTTCCGTAACAAAATAAGGC 0.403 PLCL1 5334 broad.mit.edu 37 2 198949579 198949579 + Silent SNP A A C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr2:198949579A>C uc010fsp.2 + 2 1629 c.1338A>C c.(1336-1338)GTA>GTC p.V446V PLCL1_uc002uuv.3_Silent_p.V367V NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 446 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AACTCGATGTAAGTGATGGTT 0.393 D2HGDH 728294 broad.mit.edu 37 2 242683123 242683123 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr2:242683123G>A uc002wce.1 + 5 750 c.577G>A c.(577-579)GGA>AGA p.G193R D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Missense_Mutation_p.G59R|D2HGDH_uc002wcg.1_RNA NM_152783 NP_689996 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase precursor 193 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GCTGGACTTAGGAGCCAAGGG 0.607 GTSE1 51512 broad.mit.edu 37 22 46725338 46725338 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr22:46725338C>T uc011aqy.1 + 11 2222 c.2010C>T c.(2008-2010)ATC>ATT p.I670I GTSE1_uc011aqz.1_Silent_p.I517I|GTSE1_uc003bhn.2_RNA|uc011ara.1_5'Flank|uc003bho.3_5'Flank NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 651 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TTCCTCTCATCGACTTCTGCG 0.502 TUBGCP6 85378 broad.mit.edu 37 22 50664332 50664332 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr22:50664332G>A uc003bkb.1 - 10 2386 c.1874C>T c.(1873-1875)TCG>TTG p.S625L TUBGCP6_uc010har.1_Missense_Mutation_p.S625L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 625 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GAAAATCACCGAGATCCGGGG 0.597 TRAK1 22906 broad.mit.edu 37 3 42261066 42261066 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr3:42261066G>A uc003cky.2 + 15 2260 c.2044G>A c.(2044-2046)GAG>AAG p.E682K TRAK1_uc011azi.1_Missense_Mutation_p.E661K NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 682 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 TCCTTCAGATGAGCTCACTCG 0.557 NBEAL2 23218 broad.mit.edu 37 3 47041809 47041809 + Missense_Mutation SNP C C A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr3:47041809C>A uc003cqp.2 + 27 4399 c.4220C>A c.(4219-4221)TCC>TAC p.S1407Y NBEAL2_uc010hjm.1_Missense_Mutation_p.S784Y|NBEAL2_uc010hjn.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1407 binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CGCCACAGCTCCAGTCTCTCC 0.667 PROS1 5627 broad.mit.edu 37 3 93615512 93615512 + Missense_Mutation SNP C C G TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr3:93615512C>G uc003drb.3 - 9 1214 c.873G>C c.(871-873)TTG>TTC p.L291F PROS1_uc010hoo.2_Missense_Mutation_p.L160F|PROS1_uc003dqz.3_Missense_Mutation_p.L160F NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 291 leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TGTCAAGGTTCAAGGGAAGGC 0.368 KALRN 8997 broad.mit.edu 37 3 123987823 123987823 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr3:123987823C>T uc003ehg.2 + 5 811 c.684C>T c.(682-684)GAC>GAT p.D228D KALRN_uc010hrv.1_Silent_p.D228D|KALRN_uc003ehf.1_Silent_p.D228D|KALRN_uc011bjy.1_Silent_p.D228D NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 228 Spectrin 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GGCTCATTGACGAACACACAC 0.642 PLXND1 23129 broad.mit.edu 37 3 129325170 129325170 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr3:129325170G>A uc003emx.2 - 1 413 c.313C>T c.(313-315)CAC>TAC p.H105Y NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 105 Extracellular (Potential).|Sema. axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGCGGAGCGTGACACAGCGGG 0.711 CRIPAK 285464 broad.mit.edu 37 4 1388882 1388882 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr4:1388882G>A uc003gdf.2 + 1 3543 c.583G>A c.(583-585)GTG>ATG p.V195M NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 195 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) ACGTGCCCATGTGGAGTGCTC 0.657 PRMT10 90826 broad.mit.edu 37 4 148575180 148575180 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr4:148575180G>A uc003ilc.2 - 9 2010 c.1868C>T c.(1867-1869)TCT>TTT p.S623F PRMT10_uc003ilb.2_Missense_Mutation_p.S267F|PRMT10_uc003ild.2_Missense_Mutation_p.S510F NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 623 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 ATTGGCTTCAGATATGAGGTC 0.443 MRPL36 64979 broad.mit.edu 37 5 1798960 1798960 + Silent SNP T T C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr5:1798960T>C uc003jcx.3 - 2 153 c.90A>G c.(88-90)CTA>CTG p.L30L NDUFS6_uc003jcy.2_5'Flank NM_032479 NP_115868 Q9P0J6 RM36_HUMAN mitochondrial ribosomal protein L36 precursor 30 translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 GBM - Glioblastoma multiforme(108;0.241) TGGATCCAAATAGAAATGTGG 0.562 C5orf38 153571 broad.mit.edu 37 5 2752817 2752817 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr5:2752817C>T uc003jdc.2 + 2 399 c.282C>T c.(280-282)GTC>GTT p.V94V C5orf38_uc011cmg.1_Silent_p.V94V|C5orf38_uc011cmh.1_RNA|C5orf38_uc011cmi.1_RNA|C5orf38_uc011cmj.1_Intron NM_178569 NP_848664 Q86SI9 CEI_HUMAN hypothetical protein LOC153571 precursor 94 extracellular region 0 GBM - Glioblastoma multiforme(108;0.205) CCAGTCACGTCGAGAACGGGC 0.597 HSPB3 8988 broad.mit.edu 37 5 53751847 53751847 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr5:53751847C>T uc003jph.1 + 1 403 c.228C>T c.(226-228)GAC>GAT p.D76D NM_006308 NP_006299 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 76 cell death|response to heat|response to unfolded protein cytoplasm|nucleus 0 Lung NSC(810;0.00104) TCCTGCTGGACGTGGTCCAGT 0.547 SEMA6A 57556 broad.mit.edu 37 5 115783361 115783361 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr5:115783361C>T uc010jck.2 - 19 2750 c.2041G>A c.(2041-2043)GTG>ATG p.V681M SEMA6A_uc003krx.3_Missense_Mutation_p.V698M|SEMA6A_uc011cwe.1_Missense_Mutation_p.V60M|SEMA6A_uc003krv.3_Missense_Mutation_p.V108M|SEMA6A_uc003krw.3_Missense_Mutation_p.V158M|SEMA6A_uc010jcj.2_Missense_Mutation_p.V225M NM_020796 NP_065847 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and 681 Cytoplasmic (Potential). apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity ovary(2) 2 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) ACCACAGCCACGTCTTTGCGC 0.617 ADAMTS19 171019 broad.mit.edu 37 5 128864285 128864285 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr5:128864285G>A uc003kvb.1 + 6 1225 c.1225G>A c.(1225-1227)GGC>AGC p.G409S ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 409 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TGAAGAATTTGGCAAAAAGAA 0.373 UNC5A 90249 broad.mit.edu 37 5 176301546 176301546 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr5:176301546C>T uc003mey.2 + 8 1549 c.1357C>T c.(1357-1359)CGG>TGG p.R453W UNC5A_uc010jkg.1_Missense_Mutation_p.R413W NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 453 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCGGGGGCCGGCTGATGAT 0.627 HIST1H2AG 8969 broad.mit.edu 37 6 27101073 27101073 + Nonsense_Mutation SNP A A T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr6:27101073A>T uc003niw.2 + 1 257 c.223A>T c.(223-225)AAG>TAG p.K75* HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 75 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 CCGCGACAACAAGAAGACCCG 0.662 OR2W1 26692 broad.mit.edu 37 6 29012864 29012864 + Missense_Mutation SNP A A C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr6:29012864A>C uc003nlw.2 - 1 89 c.89T>G c.(88-90)GTT>GGT p.V30G NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GATGGCGACAACTCCTGACAG 0.408 SLC44A4 80736 broad.mit.edu 37 6 31838613 31838613 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr6:31838613C>T uc010jti.2 - 10 979 c.913G>A c.(913-915)GTG>ATG p.V305M SLC44A4_uc011dol.1_Missense_Mutation_p.V229M|SLC44A4_uc011dom.1_Missense_Mutation_p.V263M NM_025257 NP_079533 Q53GD3 CTL4_HUMAN choline transporter-like protein 4 305 Extracellular (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 Choline(DB00122) GTCTCCTGCACGCTCTGGTAG 0.687 TREML2 79865 broad.mit.edu 37 6 41160244 41160244 + Missense_Mutation SNP C C A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr6:41160244C>A uc010jxm.1 - 5 1066 c.887G>T c.(886-888)AGC>ATC p.S296I NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 296 Cytoplasmic (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) CATGCTGTAGCCTGCAAGAAA 0.592 TMEM195 392636 broad.mit.edu 37 7 15425094 15425094 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr7:15425094C>T uc003stb.1 - 10 1221 c.1051G>A c.(1051-1053)GAA>AAA p.E351K NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 351 Helical; (Potential). ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 AAGGTCTCTTCATAAAATGCC 0.358 AGR2 10551 broad.mit.edu 37 7 16841334 16841334 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr7:16841334G>A uc003str.2 - 2 274 c.87C>T c.(85-87)GCC>GCT p.A29A AGR2_uc011jxy.1_Silent_p.A29A NM_006408 NP_006399 O95994 AGR2_HUMAN anterior gradient 2 homolog precursor 29 mucus secretion endoplasmic reticulum|extracellular region protein binding 0 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) TGTCCTTTTTGGCTCCAGGTT 0.493 ZNF273 10793 broad.mit.edu 37 7 64388475 64388475 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr7:64388475C>T uc003tto.2 + 4 845 c.769C>T c.(769-771)CCT>TCT p.P257S ZNF273_uc003ttl.2_Missense_Mutation_p.P192S|ZNF273_uc003ttn.2_Missense_Mutation_p.P192S NM_021148 NP_066971 Q14593 ZN273_HUMAN zinc finger protein 273 257 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(55;0.0295)|all_lung(88;0.0691) GATAATTCATCCTGAAGTGAA 0.328 CRISPLD1 83690 broad.mit.edu 37 8 75932271 75932271 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr8:75932271G>A uc003yan.2 + 12 1576 c.1201G>A c.(1201-1203)GAA>AAA p.E401K CRISPLD1_uc011lfk.1_Missense_Mutation_p.E213K|CRISPLD1_uc011lfl.1_Missense_Mutation_p.E213K NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 401 LCCL 2. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) AACAACTGTGGAACAGCTCTG 0.408 KCNS2 3788 broad.mit.edu 37 8 99441350 99441350 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr8:99441350C>T uc003yin.2 + 2 1493 c.1143C>T c.(1141-1143)GTC>GTT p.V381V NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 381 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GGGATGTGGTCCCAGGGACCA 0.592 CSMD3 114788 broad.mit.edu 37 8 114186070 114186070 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr8:114186070C>T uc003ynu.2 - 4 749 c.590G>A c.(589-591)GGG>GAG p.G197E CSMD3_uc003ynt.2_Missense_Mutation_p.G157E|CSMD3_uc011lhx.1_Missense_Mutation_p.G197E|CSMD3_uc010mcx.1_Missense_Mutation_p.G197E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 197 Extracellular (Potential).|Sushi 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATCTTGTCCCCGACGTCGAA 0.458 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TG 7038 broad.mit.edu 37 8 133900456 133900456 + Missense_Mutation SNP C C A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr8:133900456C>A uc003ytw.2 + 10 2445 c.2404C>A c.(2404-2406)CTG>ATG p.L802M NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 802 Thyroglobulin type-1 7. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCCTGCCAAGCTGCTAGTGAA 0.522 FLJ43860 389690 broad.mit.edu 37 8 142500353 142500353 + Silent SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr8:142500353G>A uc003ywi.2 - 5 642 c.561C>T c.(559-561)GAC>GAT p.D187D FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 187 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGCTGGCCGCGTCCTGGTATA 0.632 GABBR2 9568 broad.mit.edu 37 9 101148039 101148039 + Silent SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr9:101148039C>T uc004ays.2 - 11 1701 c.1545G>A c.(1543-1545)TCG>TCA p.S515S NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 515 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) TGTATGGACTCGACATCTTTA 0.388 TGFBR1 7046 broad.mit.edu 37 9 101904872 101904872 + Missense_Mutation SNP C C T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr9:101904872C>T uc004azc.2 + 5 936 c.860C>T c.(859-861)TCC>TTC p.S287F TGFBR1_uc004azd.2_Missense_Mutation_p.S210F|TGFBR1_uc011lvc.1_Missense_Mutation_p.S218F NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 287 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) GAGCATGGATCCCTTTTTGAT 0.428 UCK1 83549 broad.mit.edu 37 9 134404543 134404543 + Silent SNP G G A rs149130090 byFrequency TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr9:134404543G>A uc004cay.2 - 4 581 c.480C>T c.(478-480)ACC>ACT p.T160T UCK1_uc010mzk.2_Silent_p.T151T|UCK1_uc004cba.2_Silent_p.T160T|UCK1_uc004caz.2_RNA NM_031432 NP_113620 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 isoform a 160 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) CGTCGGAGTCGGTGTCCACGA 0.647 RBM3 5935 broad.mit.edu 37 X 48433596 48433596 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chrX:48433596G>A uc004dkf.1 + 2 167 c.28G>A c.(28-30)GTG>ATG p.V10M RBM3_uc004dkd.1_RNA|RBM3_uc004dkg.2_Missense_Mutation_p.V10M NM_006743 NP_006734 P98179 RBM3_HUMAN RNA binding motif protein 3 10 RRM. positive regulation of translation dendrite|nucleus nucleotide binding|RNA binding ovary(1) 1 AAAGCTCTTCGTGGGAGGGCT 0.502 OREG0019765 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CYSLTR1 10800 broad.mit.edu 37 X 77528391 77528391 + Missense_Mutation SNP C C A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chrX:77528391C>A uc004edb.2 - 3 1253 c.853G>T c.(853-855)GCA>TCA p.A285S CYSLTR1_uc010nma.2_Missense_Mutation_p.A285S|CYSLTR1_uc010nmb.2_Missense_Mutation_p.A285S NM_006639 NP_006630 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 285 Helical; Name=7; (Potential). elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity ovary(1) 1 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CAATTGGATGCAGCCAGAGAC 0.418 ACTRT1 139741 broad.mit.edu 37 X 127185061 127185061 + Nonsense_Mutation SNP G G T TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chrX:127185061G>T uc004eum.2 - 1 1322 c.1125C>A c.(1123-1125)TGC>TGA p.C375* NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 375 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 ATCTTTAAAAGCACCTTCTTT 0.463 RAB39B 116442 broad.mit.edu 37 X 154493546 154493546 + Missense_Mutation SNP G G A TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chrX:154493546G>A uc004fne.2 - 1 307 c.28C>T c.(28-30)CGG>TGG p.R10W NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 10 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACAATGAGCCGGAACTGGTAC 0.687 ARID1A 8289 broad.mit.edu 37 1 27023449 27023449 + Frame_Shift_Del DEL G G - TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr1:27023449delG uc001bmv.1 + 1 928 c.555delG c.(553-555)CAGfs p.Q185fs ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q185fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q185fs NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 185 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Q185*(1) ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAGCGCTGCAGAGCGGCGGCG 0.701 Mis|N|F|S|D clear cell ovarian carcinoma|RCC STRA8 346673 broad.mit.edu 37 7 134931359 134931360 + Frame_Shift_Ins INS - - C TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr7:134931359_134931360insC uc011kpx.1 + 6 637_638 c.637_638insC c.(637-639)GCCfs p.A213fs NM_182489 NP_872295 Q7Z7C7 STRA8_HUMAN STRA8 213 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus 0 CCTGGCGGAGGCCTGCCGAGAG 0.728 PTGS2 5743 broad.mit.edu 37 1 186645221 186645222 + Frame_Shift_Ins INS - - ACCCA TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr1:186645220_186645221T>TACCCA uc001gsb.3 - 7 1203_1204 c.1066_1067A>TGGGTA c.(1066-1068)caafs p.Q356fs PTGS2_uc009wyo.3_Frame_Shift_Ins_p.Q203fs NM_000963 NP_000954 P35354 PGH2_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA. 356 cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154) GTACTGGAATTGTTTGTTGAAA 0.381 CAPN7 23473 broad.mit.edu 37 3 15271957 15271957 + Frame_Shift_Del DEL A A - TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr3:15271956_15271956TA>T uc003bzn.3 + 8 1216 c.946_946TA>T c.(946-948)tacfs p.Y316fs NM_014296 NP_055111 Q9Y6W3 CAN7_HUMAN Homo sapiens calpain 7 (CAPN7), mRNA. 316 Calpain catalytic. proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 AAGCATAATTTACCCTCAAAA 0.328 SRP72 6731 broad.mit.edu 37 4 57357732 57357735 + Frame_Shift_Del DEL AGGG AGGG - TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr4:57357731_57357734AAGGG>A uc003hbv.3 + 15 1677_1680 c.1637_1640AAGGG>A c.(1636-1641)caaggafs p.Q546fs SRP72_uc010ihe.3_Frame_Shift_Del_p.Q485fs NM_006947 NP_008878 O76094 SRP72_HUMAN Homo sapiens signal recognition particle 72kDa (SRP72), mRNA. 546 SRP-dependent cotranslational protein targeting to membrane|response to drug cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) CCAAAGGAACAAGGGTAATATTTT 0.328 NCAPD3 23310 broad.mit.edu 37 11 134086906 134086907 + Frame_Shift_Ins INS - - CA TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr11:134086905_134086906T>TCA uc001qhd.1 - 2 912_913 c.306_307A>TGA c.(304-309)aagaagfs p.K102fs NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript NM_015261 NP_056076 P42695 CNDD3_HUMAN Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA. 102 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) CTGACATTCTTCTTATGAACTA 0.411 CDH1 999 broad.mit.edu 37 16 68845701 68845703 + In_Frame_Del DEL TGT TGT - TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chr16:68845700_68845702ATGT>A uc002ewg.1 + 6 1070_1072 c.946_948ATGT>A c.(946-948)atg>A p.M316del CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_In_Frame_Del_p.M316del NM_004360 NP_004351 P12830 CADH1_HUMAN Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA. 316 Cadherin 2. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.N315S(3)|p.M316V(2)|p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGACAAAAATATGTTCACCATTA 0.542 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer SLITRK2 84631 broad.mit.edu 37 X 144906323 144906326 + Frame_Shift_Del DEL AACC AACC - TCGA-BR-8677-01A-11D-2394-08 TCGA-BR-8677-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx df4fb014-ac78-45f4-bf7d-6d3fb15af874 193fa960-f89a-404d-b0f4-a6c5743aed4c g.chrX:144906322_144906325AAACC>A uc022cfn.1 + 0 2379_2382 c.2379_2382AAACC>A c.(2377-2382)caaaacfs p.Q793fs SLITRK2_uc004fcd.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc010nsp.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc010nso.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mwq.2_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mwr.2_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mws.2_Frame_Shift_Del_p.Q793fs|SLITRK2_uc004fcg.3_Frame_Shift_Del_p.Q793fs|SLITRK2_uc011mwt.2_Frame_Shift_Del_p.Q793fs|CXorf1_uc004fch.3_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA. 793 integral to membrane p.R792G(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) CTCGACGCCAAAACCAAGACAGAA 0.466