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 CLCNKB 1188 broad.mit.edu 37 1 16377482 16377482 + Nonsense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:16377482G>A uc001axw.3 + 12 1246 c.1166G>A c.(1165-1167)TGG>TAG p.W389* FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Nonsense_Mutation_p.W389*|CLCNKB_uc001axy.3_Nonsense_Mutation_p.W220* NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 389 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CACCTGTGGTGGGAATGGTAC 0.632000 EPHA2 1969 broad.mit.edu 37 1 16464906 16464906 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:16464906A>T uc001aya.1 - 4 980 c.843T>A c.(841-843)TTT>TTA p.F281L EPHA2_uc010oca.1_Missense_Mutation_p.F281L NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 281 Extracellular (Potential).|Cys-rich. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CCTCAAACTTAAAAAATCCAG 0.572000 CLIC4 25932 broad.mit.edu 37 1 25124240 25124240 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:25124240G>A uc001bjo.2 + 2 365 c.80G>A c.(79-81)AGT>AAT p.S27N CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Intron NM_013943 NP_039234 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 27 Required for insertion into the membrane (Probable). cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) CAGGCTGGCAGTGATGGTGAA 0.378000 SPOCD1 90853 broad.mit.edu 37 1 32265646 32265646 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:32265646C>T uc001bts.1 - 5 1757 c.1699G>A c.(1699-1701)GAC>AAC p.D567N SPOCD1_uc001btt.2_5'Flank|SPOCD1_uc001btu.2_Missense_Mutation_p.D567N|SPOCD1_uc001btv.2_Missense_Mutation_p.D60N|SPOCD1_uc001btw.1_5'Flank NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 567 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) GAGCTGGGGTCGCCAAGGGCC 0.632000 TRIT1 54802 broad.mit.edu 37 1 40307584 40307584 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:40307584C>T uc010oiz.1 - 11 1250 c.1236G>A c.(1234-1236)GCG>GCA p.A412A TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Silent_p.A108A|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Silent_p.A166A|TRIT1_uc001ceh.3_Silent_p.A166A|TRIT1_uc009vvv.2_Silent_p.A245A|TRIT1_uc001cei.3_Silent_p.A166A|TRIT1_uc001ceq.2_Silent_p.A108A|TRIT1_uc001cek.2_Silent_p.A108A|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_RNA|TRIT1_uc001cem.2_Silent_p.A330A|TRIT1_uc001cen.2_Silent_p.A166A|TRIT1_uc001ceo.2_Silent_p.A166A|TRIT1_uc001cep.2_Silent_p.A166A NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 412 Matrin-type. tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) ATTTTATGTGCGCTGATAAGA 0.348000 CYP4A22 284541 broad.mit.edu 37 1 47609043 47609043 + Nonsense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:47609043C>T uc001cqv.1 + 5 664 c.613C>T c.(613-615)CAG>TAG p.Q205* CYP4A22_uc009vyo.2_Nonsense_Mutation_p.Q205*|CYP4A22_uc009vyp.2_Nonsense_Mutation_p.Q205* NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 205 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 CTTCAGCCATCAGGGCAGCAT 0.572000 FAM159A 348378 broad.mit.edu 37 1 53099190 53099190 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:53099190G>A uc001cuf.2 + 1 125 c.25G>A c.(25-27)GTG>ATG p.V9M FAM159A_uc001cug.1_RNA|FAM159A_uc001cuh.2_RNA NM_001042693 NP_001036158 Q6UWV7 F159A_HUMAN hypothetical protein LOC348378 9 integral to membrane 0 CACGAGCTACGTGAGCGCAGA 0.622000 LRRIQ3 127255 broad.mit.edu 37 1 74507160 74507160 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:74507160T>G uc001dfy.3 - 7 1647 c.1455A>C c.(1453-1455)CAA>CAC p.Q485H LRRIQ3_uc001dfz.3_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 485 ovary(2) 2 TTTGCCAAACTTGTCGTAAAC 0.323000 ELTD1 64123 broad.mit.edu 37 1 79392711 79392711 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:79392711A>C uc001diq.3 - 8 1099 c.943T>G c.(943-945)TTC>GTC p.F315V NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 315 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTCAATAAGAAGTTGTCAGAT 0.318000 ELTD1 64123 broad.mit.edu 37 1 79403793 79403793 + Missense_Mutation SNP T T A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:79403793T>A uc001diq.3 - 5 724 c.568A>T c.(568-570)ACT>TCT p.T190S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 190 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) ACAGTAAGAGTTGAGTTAGAA 0.308000 LPHN2 23266 broad.mit.edu 37 1 82416057 82416057 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:82416057T>G uc001dit.3 + 7 1564 c.1383T>G c.(1381-1383)ATT>ATG p.I461M LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I461M|LPHN2_uc001div.2_Missense_Mutation_p.I461M|LPHN2_uc009wcd.2_Missense_Mutation_p.I461M|LPHN2_uc001diw.2_Missense_Mutation_p.I32M NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 461 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TAACAAATATTTTTCCCCTGC 0.473000 HFM1 164045 broad.mit.edu 37 1 91851178 91851178 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:91851178G>T uc001doa.3 - 5 808 c.708C>A c.(706-708)TTC>TTA p.F236L HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.F236L NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 236 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATGGTGCTTTGAACATGCCTT 0.338000 COL11A1 1301 broad.mit.edu 37 1 103345385 103345385 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:103345385A>C uc001dul.2 - 66 5446 c.5128T>G c.(5128-5130)TTC>GTC p.F1710V COL11A1_uc001duk.2_Missense_Mutation_p.F906V|COL11A1_uc001dum.2_Missense_Mutation_p.F1722V|COL11A1_uc001dun.2_Missense_Mutation_p.F1671V|COL11A1_uc009weh.2_Missense_Mutation_p.F1594V NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1710 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGGTAGGTGAAATTTTGCCGA 0.428000 CELSR2 1952 broad.mit.edu 37 1 109794410 109794410 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:109794410G>A uc001dxa.3 + 1 1770 c.1709G>A c.(1708-1710)CGG>CAG p.R570Q NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 570 Cadherin 4.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GAACTGGACCGGGAGGAAGTT 0.572000 SMG5 23381 broad.mit.edu 37 1 156246933 156246933 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:156246933A>T uc001foc.3 - 4 546 c.397T>A c.(397-399)TAC>AAC p.Y133N NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 133 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) TCCAGCTGGTAGTGGGACTGG 0.542000 CD1E 913 broad.mit.edu 37 1 158324361 158324361 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:158324361T>G uc001fse.2 + 2 492 c.253T>G c.(253-255)TTC>GTC p.F85V CD1E_uc010pid.1_Missense_Mutation_p.F83V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F85V|CD1E_uc001fsk.2_Missense_Mutation_p.F85V|CD1E_uc001fsj.2_Missense_Mutation_p.F85V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F85V|CD1E_uc001fry.2_Missense_Mutation_p.F85V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F85V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F85V|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 85 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CCATGGAAACTTCAGCAAGCA 0.498000 OR10Z1 128368 broad.mit.edu 37 1 158576489 158576489 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:158576489G>A uc010pio.1 + 1 261 c.261G>A c.(259-261)GGG>GGA p.G87G NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) GCCTGGCTGGGGGGGACCAGG 0.547000 PTPRC 5788 broad.mit.edu 37 1 198711490 198711490 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:198711490A>T uc001gur.1 + 25 2865 c.2685A>T c.(2683-2685)CAA>CAT p.Q895H PTPRC_uc001gus.1_Missense_Mutation_p.Q847H|PTPRC_uc001gut.1_Missense_Mutation_p.Q734H NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 895 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. Substrate (By similarity). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TGATGGTTCAAGTAGAGGTAT 0.363000 FMOD 2331 broad.mit.edu 37 1 203311556 203311556 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:203311556C>T uc001gzr.2 - 3 1182 c.1046G>A c.(1045-1047)CGC>CAC p.R349H FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 349 LRR 11. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) CCCGTCCAGGCGCAGCACCTG 0.647000 OREG0014119 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RAB3GAP2 25782 broad.mit.edu 37 1 220345380 220345380 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:220345380C>T uc010puk.1 - 23 2592 c.2428G>A c.(2428-2430)GAG>AAG p.E810K RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.E390K NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 810 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) TCCCAGGTCTCATCGATGGCC 0.433000 ERO1LB 56605 broad.mit.edu 37 1 236399099 236399099 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:236399099C>T uc001hxt.2 - 8 919 c.663G>A c.(661-663)GCG>GCA p.A221A NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN endoplasmic reticulum oxidoreductin 1-Lbeta 221 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) CTCGGCTAGGCGCCAGAGGAT 0.289000 FMN2 56776 broad.mit.edu 37 1 240256759 240256759 + Silent SNP C C A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:240256759C>A uc010pyd.1 + 1 1575 c.1350C>A c.(1348-1350)TCC>TCA p.S450S FMN2_uc010pye.1_Silent_p.S450S NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 450 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGGAACCCTCCCTGAGCCGAG 0.697000 FMN2 56776 broad.mit.edu 37 1 240555824 240555824 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr1:240555824A>G uc010pyd.1 + 15 5097 c.4872A>G c.(4870-4872)CAA>CAG p.Q1624Q FMN2_uc010pye.1_Silent_p.Q1628Q|FMN2_uc010pyf.1_Silent_p.Q239Q|FMN2_uc010pyg.1_Silent_p.Q220Q NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1624 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAATTGACCAAGAGGCAGAGG 0.343000 PLXDC2 84898 broad.mit.edu 37 10 20465939 20465939 + Silent SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr10:20465939A>C uc001iqg.1 + 8 1532 c.895A>C c.(895-897)AGA>CGA p.R299R PLXDC2_uc001iqh.1_Silent_p.R250R|PLXDC2_uc009xkc.1_RNA NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN plexin domain containing 2 precursor 299 Extracellular (Potential). integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 TGTTCGAAGAAGAACAATTTA 0.318000 GPR158 57512 broad.mit.edu 37 10 25701388 25701388 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr10:25701388T>G uc001isj.2 + 4 1381 c.1321T>G c.(1321-1323)TTT>GTT p.F441V NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 441 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GGTCTACCACTTTCGCAAAGC 0.433000 GPR158 57512 broad.mit.edu 37 10 25886999 25886999 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr10:25886999A>C uc001isj.2 + 11 2504 c.2444A>C c.(2443-2445)AAG>ACG p.K815T GPR158_uc001isk.2_Missense_Mutation_p.K190T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 815 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TTCTCACTCAAGAAATCCCAC 0.512000 TET1 80312 broad.mit.edu 37 10 70451076 70451076 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr10:70451076C>T uc001jok.3 + 12 6421 c.5916C>T c.(5914-5916)GAC>GAT p.D1972D NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1972 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 CTCCATCAGACGAACCCCTAT 0.498000 CDH23 64072 broad.mit.edu 37 10 73544140 73544140 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr10:73544140G>A uc001jrx.3 + 40 5842 c.5465G>A c.(5464-5466)TGT>TAT p.C1822Y NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1822 Cadherin 17.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CTGACCATCTGTGCCCGTGAC 0.637000 ZNF503 84858 broad.mit.edu 37 10 77158820 77158820 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr10:77158820G>A uc001jxg.2 - 2 1964 c.1628C>T c.(1627-1629)ACG>ATG p.T543M C10orf41_uc010qlf.1_5'Flank NM_032772 NP_116161 Q96F45 ZN503_HUMAN zinc finger protein 503 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) GGGAAATGCCGTATGGGTCCG 0.662000 PYROXD2 84795 broad.mit.edu 37 10 100150465 100150465 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr10:100150465G>A uc001kpc.2 - 12 1268 c.1182C>T c.(1180-1182)CCC>CCT p.P394P PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA NM_032709 NP_116098 Q8N2H3 PYRD2_HUMAN pyridine nucleotide-disulphide oxidoreductase 394 oxidoreductase activity central_nervous_system(1) 1 GCTGGCCCCTGGGAGCATTGG 0.617000 OR51A7 119687 broad.mit.edu 37 11 4928970 4928970 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:4928970T>G uc010qyq.1 + 1 371 c.371T>G c.(370-372)CTT>CGT p.L124R NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GACCGCTTTCTTGCCATTCAC 0.393000 OR52E8 390079 broad.mit.edu 37 11 5878173 5878173 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:5878173A>C uc010qzr.1 - 1 760 c.760T>G c.(760-762)TTA>GTA p.L254V TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAAAGGCTAAGATAACACCA 0.418000 OR56A4 120793 broad.mit.edu 37 11 6023384 6023384 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:6023384T>G uc010qzv.1 - 1 995 c.995A>C c.(994-996)AAC>ACC p.N332T NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGCAGGATGTTGAGCAGGAT 0.512000 OR56A1 120796 broad.mit.edu 37 11 6048895 6048895 + Missense_Mutation SNP C C G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:6048895C>G uc010qzw.1 - 1 40 c.40G>C c.(40-42)GTC>CTC p.V14L NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|breast(1) 3 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGACTGGGACAGTGGAGCTG 0.517000 DCDC1 341019 broad.mit.edu 37 11 31349807 31349807 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:31349807T>C uc001msv.2 - 3 223 c.21A>G c.(19-21)GAA>GAG p.E7E DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 7 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) CTCTGTGATCTTCTGCTCCTG 0.363000 API5 8539 broad.mit.edu 37 11 43352073 43352073 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:43352073G>A uc010rfh.1 + 11 1410 c.1237G>A c.(1237-1239)GTT>ATT p.V413I API5_uc010rfg.1_Missense_Mutation_p.V402I|API5_uc001mxf.2_Missense_Mutation_p.V413I|API5_uc010rfi.1_Missense_Mutation_p.V359I|API5_uc001mxg.2_Missense_Mutation_p.V287I NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 413 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GATTAAAGTCGTTGCATTGAA 0.294000 OR4A5 81318 broad.mit.edu 37 11 51412117 51412117 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:51412117T>G uc001nhi.1 - 1 279 c.279A>C c.(277-279)CAA>CAC p.Q93H NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) CCATGCAACCTTGGAAGGAAA 0.448000 SPRYD5 84767 broad.mit.edu 37 11 55657447 55657447 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:55657447A>T uc010rip.1 + 6 883 c.791A>T c.(790-792)GAG>GTG p.E264V SPRYD5_uc010riq.1_Missense_Mutation_p.E121V NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 264 intracellular zinc ion binding 0 all_epithelial(135;0.226) CAAGTGTCTGAGCCTGTGAAT 0.478000 OR5W2 390148 broad.mit.edu 37 11 55681965 55681965 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:55681965A>C uc010rir.1 - 1 94 c.94T>G c.(94-96)TTG>GTG p.L32V NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 32 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TAAACAGCCAAGAATACAGCA 0.353000 FAT3 120114 broad.mit.edu 37 11 92533859 92533859 + Silent SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:92533859G>T uc001pdj.3 + 9 7697 c.7680G>T c.(7678-7680)CGG>CGT p.R2560R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2560 Cadherin 23.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GGCTAGACCGGGAAAACCCTC 0.473000 TCGA Ovarian(4;0.039) TRPC6 7225 broad.mit.edu 37 11 101347243 101347243 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:101347243T>G uc001pgk.3 - 6 1958 c.1533A>C c.(1531-1533)AAA>AAC p.K511N TRPC6_uc009ywy.2_Missense_Mutation_p.K395N|TRPC6_uc009ywz.1_Missense_Mutation_p.K456N NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 511 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCCAGATTTCTTTACATTCAG 0.373000 DYNC2H1 79659 broad.mit.edu 37 11 103058272 103058272 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:103058272T>G uc001pho.2 + 43 7241 c.7097T>G c.(7096-7098)CTT>CGT p.L2366R DYNC2H1_uc001phn.1_Missense_Mutation_p.L2366R|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2366 AAA 3 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CTACCTAAACTTGATAAATGG 0.343000 DYNC2H1 79659 broad.mit.edu 37 11 103124160 103124160 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:103124160A>C uc001pho.2 + 66 10333 c.10189A>C c.(10189-10191)AGT>CGT p.S3397R DYNC2H1_uc001phn.1_Missense_Mutation_p.S3404R|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3397 AAA 5 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TACAACAAGAAGTGGATTACG 0.358000 RAB39 54734 broad.mit.edu 37 11 107832831 107832831 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:107832831T>C uc001pjt.2 + 2 405 c.387T>C c.(385-387)TGT>TGC p.C129C NM_017516 NP_059986 Q14964 RB39A_HUMAN RAB39, member RAS oncogene family 129 GTP (By similarity). protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179) GACATAAATGTGATTTAGCTT 0.388000 CBL 867 broad.mit.edu 37 11 119170326 119170326 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr11:119170326C>T uc001pwe.2 + 16 2694 c.2556C>T c.(2554-2556)ACC>ACT p.T852T NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 852 Interaction with CD2AP. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CTGCTGCCACCGCCTCACCTC 0.562000 CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome CHD4 1108 broad.mit.edu 37 12 6702658 6702658 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:6702658C>T uc001qpo.2 - 16 2602 c.2438G>A c.(2437-2439)CGT>CAT p.R813H CHD4_uc001qpn.2_Missense_Mutation_p.R806H|CHD4_uc001qpp.2_Missense_Mutation_p.R810H NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 813 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 GATGATGGCACGGCTGTCCTT 0.537000 LAG3 3902 broad.mit.edu 37 12 6883914 6883914 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:6883914C>T uc001qqt.3 + 4 1014 c.665C>T c.(664-666)GCG>GTG p.A222V LAG3_uc001qqs.2_Missense_Mutation_p.A222V|LAG3_uc001qqu.2_Missense_Mutation_p.A52V NM_002286 NP_002277 P18627 LAG3_HUMAN lymphocyte-activation protein 3 precursor 222 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane antigen binding|MHC class II protein binding 0 CACCACTTAGCGGAAAGCTTC 0.627000 CLEC2B 9976 broad.mit.edu 37 12 10007076 10007076 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:10007076A>G uc001qwn.2 - 4 902 c.245T>C c.(244-246)CTT>CCT p.L82P NM_005127 NP_005118 Q92478 CLC2B_HUMAN C-type lectin, superfamily member 2 82 C-type lectin.|Extracellular (Potential). integral to plasma membrane sugar binding 0 ATACCGCCTAAGAAAATTCTT 0.373000 KCNJ8 3764 broad.mit.edu 37 12 21919280 21919280 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:21919280T>G uc001rff.2 - 3 990 c.652A>C c.(652-654)AGC>CGC p.S218R NM_004982 NP_004973 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel J8 218 Cytoplasmic (By similarity). voltage-gated potassium channel complex 0 Levosimendan(DB00922) ATGATCATGCTTTTCCTCAGG 0.498000 CMAS 55907 broad.mit.edu 37 12 22218129 22218129 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:22218129G>T uc001rfm.2 + 8 1268 c.1189G>T c.(1189-1191)GCC>TCC p.A397S CMAS_uc001rfn.2_RNA NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 397 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 CTGTTCTACTGCCCAGAAGGC 0.443000 FAR2 55711 broad.mit.edu 37 12 29449959 29449959 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:29449959C>T uc001ris.3 + 4 518 c.371C>T c.(370-372)GCT>GTT p.A124V FAR2_uc001rit.2_Missense_Mutation_p.A124V|FAR2_uc009zjm.2_Missense_Mutation_p.A27V|uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 124 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TCTAGACATGCTGTGCAACTT 0.428000 KIF21A 55605 broad.mit.edu 37 12 39705250 39705250 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:39705250A>G uc001rly.2 - 32 4211 c.4065T>C c.(4063-4065)TCT>TCC p.S1355S KIF21A_uc001rlv.2_Silent_p.S300S|KIF21A_uc001rlw.2_Silent_p.S625S|KIF21A_uc001rlx.2_Silent_p.S1342S|KIF21A_uc001rlz.2_Silent_p.S1302S|KIF21A_uc010skl.1_Silent_p.S1318S|KIF21A_uc001rlt.2_5'UTR|KIF21A_uc001rlu.2_5'UTR NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1355 WD 1. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) GATCATCAGTAGAATCCACAC 0.333000 KIAA0748 9840 broad.mit.edu 37 12 55356738 55356738 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:55356738A>C uc001sgn.3 - 9 1054 c.944T>G c.(943-945)GTT>GGT p.V315G KIAA0748_uc001sgl.3_Missense_Mutation_p.V177G|KIAA0748_uc001sgm.3_Missense_Mutation_p.V62G|KIAA0748_uc010spb.1_Missense_Mutation_p.V62G|KIAA0748_uc010spc.1_Missense_Mutation_p.V177G|KIAA0748_uc010spd.1_Missense_Mutation_p.V315G|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 315 ovary(1)|central_nervous_system(1) 2 TTCCAACACAACTTGGTCCAA 0.532000 C12orf63 374467 broad.mit.edu 37 12 97045576 97045576 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr12:97045576A>C uc001tet.1 + 3 436 c.358A>C c.(358-360)AAT>CAT p.N120H NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 120 skin(6)|ovary(1) 7 ACAACTACAAAATACCAGTTC 0.299000 NBEA 26960 broad.mit.edu 37 13 36141109 36141109 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:36141109A>C uc001uvb.2 + 45 7196 c.6990A>C c.(6988-6990)GAA>GAC p.E2330D NBEA_uc010abi.2_Missense_Mutation_p.E986D|NBEA_uc010tee.1_Missense_Mutation_p.E123D|NBEA_uc010tef.1_Missense_Mutation_p.E123D|NBEA_uc010teg.1_Missense_Mutation_p.E123D NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2330 BEACH. cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATGAATCAGAAGAGTTGGACC 0.348000 CCNA1 8900 broad.mit.edu 37 13 37012812 37012812 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:37012812A>C uc001uvr.3 + 5 1051 c.701A>C c.(700-702)AAG>ACG p.K234T CCNA1_uc010teo.1_Missense_Mutation_p.K190T|CCNA1_uc010abq.2_Missense_Mutation_p.K190T|CCNA1_uc010abp.2_Missense_Mutation_p.K190T|CCNA1_uc001uvs.3_Missense_Mutation_p.K233T|CCNA1_uc010abr.2_Intron NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 234 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CACTACATGAAGAAGCAGCCA 0.448000 SMAD9 4093 broad.mit.edu 37 13 37453530 37453530 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:37453530C>T uc001uvw.2 - 2 640 c.297G>A c.(295-297)CCG>CCA p.P99P SMAD9_uc001uvx.2_Silent_p.P99P|SMAD9_uc010tep.1_5'UTR NM_001127217 NP_001120689 O15198 SMAD9_HUMAN SMAD family member 9 isoform a 99 MH1. BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity 0 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) ACTGCAGATCCGGCCAGCGCC 0.612000 TRPC4 7223 broad.mit.edu 37 13 38229268 38229268 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:38229268T>G uc001uws.2 - 7 2076 c.1841A>C c.(1840-1842)AAC>ACC p.N614T TRPC4_uc010abv.2_Missense_Mutation_p.N194T|TRPC4_uc001uwt.2_Missense_Mutation_p.N614T|TRPC4_uc010tey.1_Missense_Mutation_p.N614T|TRPC4_uc010abw.2_Missense_Mutation_p.N441T|TRPC4_uc010abx.2_Missense_Mutation_p.N614T|TRPC4_uc010aby.2_Missense_Mutation_p.N614T NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 614 Helical; (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TATTAACATGTTGAGTAGAAC 0.353000 ZC3H13 23091 broad.mit.edu 37 13 46554086 46554086 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:46554086A>C uc010tfw.1 - 10 1780 c.1774T>G c.(1774-1776)TAT>GAT p.Y592D ZC3H13_uc001vas.1_Missense_Mutation_p.Y592D|ZC3H13_uc001vat.1_Missense_Mutation_p.Y592D NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 592 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTGTCATGATAGTTGCTATTA 0.393000 C13orf18 80183 broad.mit.edu 37 13 46946186 46946186 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:46946186G>A uc010acl.2 - 3 1030 c.425C>T c.(424-426)TCT>TTT p.S142F C13orf18_uc001vbf.3_Missense_Mutation_p.S75F|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Missense_Mutation_p.S7F|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.S142F|C13orf18_uc001vbh.3_Missense_Mutation_p.S142F|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.S142F|C13orf18_uc010tga.1_Missense_Mutation_p.S75F NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 142 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) CACCCGATGAGAGTATCCTGG 0.542000 ITM2B 9445 broad.mit.edu 37 13 48835306 48835306 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:48835306C>T uc001vbz.3 + 6 970 c.747C>T c.(745-747)TTC>TTT p.F249F NM_021999 NP_068839 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 249 Lumenal (Potential). nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding 0 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) GCAATTGTTTCGCAATTCGGC 0.274000 PCDH9 5101 broad.mit.edu 37 13 66878826 66878826 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:66878826T>C uc001vik.2 - 5 4367 c.3675A>G c.(3673-3675)GCA>GCG p.A1225A PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Silent_p.A1191A|PCDH9_uc010thl.1_Silent_p.A1183A NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 1225 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAGCACCTCCTGCTTGCTTAT 0.443000 SLITRK6 84189 broad.mit.edu 37 13 86368894 86368894 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:86368894C>T uc001vll.1 - 2 2209 c.1750G>A c.(1750-1752)GTC>ATC p.V584I SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 584 Extracellular (Potential). integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GGAGTGGTGACCATAAGGTAA 0.408000 GPC6 10082 broad.mit.edu 37 13 93879749 93879749 + Missense_Mutation SNP G G C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:93879749G>C uc001vlt.2 + 1 672 c.40G>C c.(40-42)GGG>CGG p.G14R GPC6_uc010tig.1_Missense_Mutation_p.G14R NM_005708 NP_005699 Q9Y625 GPC6_HUMAN glypican 6 precursor 14 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TCCCCTCTTGGGGCTGCTGCT 0.642000 OREG0022460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NALCN 259232 broad.mit.edu 37 13 101710377 101710377 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr13:101710377G>A uc001vox.1 - 43 5126 c.4937C>T c.(4936-4938)ACG>ATG p.T1646M NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1646 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATCCGACAGCGTGGGGCTCAG 0.567000 MYH6 4624 broad.mit.edu 37 14 23874326 23874326 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr14:23874326G>A uc001wjv.2 - 6 580 c.513C>T c.(511-513)AAC>AAT p.N171N MYH6_uc010akp.1_Silent_p.N171N NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 171 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGATGGACTGGTTCTCCCGAT 0.597000 NOVA1 4857 broad.mit.edu 37 14 26918125 26918125 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr14:26918125C>T uc001wpy.2 - 5 882 c.564G>A c.(562-564)GGG>GGA p.G188G NOVA1_uc001wpz.2_Silent_p.G164G|NOVA1_uc001wqa.2_Silent_p.G66G NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 191 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) CACCTCCCTTCCCTATTATCA 0.413000 MARK3 4140 broad.mit.edu 37 14 103946722 103946722 + Splice_Site SNP A A T rs144221506 by1000genomes TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr14:103946722A>T uc001ymz.3 + 14 2149 c.1483_splice c.e14-2 p.S495_splice MARK3_uc001ymx.3_Splice_Site_p.S495_splice|MARK3_uc001ymw.3_Splice_Site_p.S495_splice|MARK3_uc001yna.3_Splice_Site_p.S479_splice|MARK3_uc001ymy.3_Splice_Site_p.S416_splice|MARK3_uc010awp.2_Splice_Site_p.S518_splice|MARK3_uc010tyb.1_Splice_Site_p.S290_splice|MARK3_uc010awq.2_Splice_Site_p.S25_splice NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) CCTTTTTTATAGAGTAACACA 0.318000 SNRPN 6638 broad.mit.edu 37 15 25220656 25220656 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr15:25220656A>C uc001ywp.1 + 8 1045 c.155A>C c.(154-156)AAG>ACG p.K52T SNRPN_uc001ywq.1_Missense_Mutation_p.K52T|SNRPN_uc001ywr.1_Missense_Mutation_p.K52T|SNRPN_uc001yws.1_Missense_Mutation_p.K52T|SNRPN_uc001ywt.1_Missense_Mutation_p.K52T|SNRPN_uc001ywv.1_Missense_Mutation_p.K55T|SNRPN_uc001yww.1_Missense_Mutation_p.K52T|SNRPN_uc001ywx.1_Missense_Mutation_p.K52T|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 52 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) AGAAAGATCAAGTAAGGCTGA 0.463000 Prader-Willi_syndrome GABRA5 2558 broad.mit.edu 37 15 27128556 27128556 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr15:27128556C>T uc001zbd.1 + 7 688 c.349C>T c.(349-351)CGC>TGC p.R117C GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 117 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCCCATGCAGCGCCTCCCTCT 0.537000 RPUSD2 27079 broad.mit.edu 37 15 40866003 40866003 + Nonsense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr15:40866003G>A uc001zmd.1 + 3 1181 c.1181G>A c.(1180-1182)TGG>TAG p.W394* NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 394 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TCAGTTGCCTGGGGTCCTTCT 0.597000 SECISBP2L 9728 broad.mit.edu 37 15 49325260 49325260 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr15:49325260G>A uc001zxe.1 - 4 700 c.566C>T c.(565-567)CCG>CTG p.P189L SECISBP2L_uc001zxd.1_Missense_Mutation_p.P189L|SECISBP2L_uc010bep.1_5'UTR|SECISBP2L_uc010beq.1_Missense_Mutation_p.P189L NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 189 breast(1)|skin(1) 2 TTTCACCAGCGGCCTTTTGCT 0.348000 ATP8B4 79895 broad.mit.edu 37 15 50189507 50189507 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr15:50189507G>A uc001zxu.2 - 23 2821 c.2679C>T c.(2677-2679)TTC>TTT p.F893F ATP8B4_uc010ber.2_Silent_p.F766F|ATP8B4_uc010ufd.1_Silent_p.F703F|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxv.1_Silent_p.F191F NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 893 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGAAACCACAGAAGAAACCAA 0.299000 RASGRF1 5923 broad.mit.edu 37 15 79356827 79356827 + Silent SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr15:79356827G>T uc002beq.2 - 2 693 c.318C>A c.(316-318)GCC>GCA p.A106A RASGRF1_uc002bep.2_Silent_p.A106A|RASGRF1_uc010blm.1_Silent_p.A28A|RASGRF1_uc002ber.3_Silent_p.A106A NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 106 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TCAGCTCCAAGGCTTTCTGGT 0.512000 GRIN2A 2903 broad.mit.edu 37 16 9857275 9857275 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr16:9857275G>A uc002czo.3 - 13 4674 c.4126C>T c.(4126-4128)CGC>TGC p.R1376C GRIN2A_uc010uym.1_Missense_Mutation_p.R1376C|GRIN2A_uc010uyn.1_Silent_p.N1104N|GRIN2A_uc002czr.3_Silent_p.N1261N NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1376 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATAACCAAGCGTTGGTCATCC 0.562000 IL21R 50615 broad.mit.edu 37 16 27460390 27460390 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr16:27460390G>A uc002doq.1 + 9 1636 c.1403G>A c.(1402-1404)CGG>CAG p.R468Q IL21R_uc002dor.1_Missense_Mutation_p.R468Q|IL21R_uc002dos.1_Missense_Mutation_p.R468Q|uc002dot.2_RNA NM_181078 NP_851564 Q9HBE5 IL21R_HUMAN interleukin 21 receptor precursor 468 Cytoplasmic (Potential). natural killer cell activation integral to membrane interleukin-21 receptor activity ovary(2)|lung(1)|breast(1) 4 TGGGGTGGCCGGTCACCTGGA 0.662000 T BCL6 NHL SRCAP 10847 broad.mit.edu 37 16 30727524 30727524 + Splice_Site SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr16:30727524G>A uc002dze.1 + 17 3015 c.2630_splice c.e17+1 p.T877_splice SRCAP_uc002dzf.2_Splice_Site|SRCAP_uc002dzg.1_Splice_Site_p.T734_splice|SRCAP_uc010bzz.1_Splice_Site_p.T447_splice NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CACAGACCACGTAAGGGAGGA 0.507000 MYST1 84148 broad.mit.edu 37 16 31131665 31131665 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr16:31131665C>T uc002eay.2 + 3 310 c.292C>T c.(292-294)CGG>TGG p.R98W MYST1_uc002eax.2_Missense_Mutation_p.R98W NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 98 Chromo. histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 TACAGTTAACCGGCGGCTGGA 0.577000 MT1H 4496 broad.mit.edu 37 16 56703730 56703730 + Translation_Start_Site SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr16:56703730C>T uc002ejw.2 + 1 5 c.-66C>T c.(-68--64)CACGC>CATGC MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank NM_005951 NP_005942 P80294 MT1H_HUMAN metallothionein 1H metal ion binding|protein binding 0 CGCTCCACCACGCCCTCCACG 0.627000 LCAT 3931 broad.mit.edu 37 16 67976469 67976469 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr16:67976469C>T uc002euy.1 - 5 556 c.545G>A c.(544-546)CGC>CAC p.R182H NM_000229 NP_000220 P04180 LCAT_HUMAN lecithin-cholesterol acyltransferase precursor 182 R -> C. cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12) TGCGAGCTTGCGGTAGTACTC 0.637000 WWP2 11060 broad.mit.edu 37 16 69922098 69922098 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr16:69922098C>T uc002exu.1 + 9 949 c.860C>T c.(859-861)TCG>TTG p.S287L WWP2_uc002ext.2_Missense_Mutation_p.S287L|WWP2_uc002exv.1_Missense_Mutation_p.S287L|WWP2_uc010vlm.1_Missense_Mutation_p.S171L NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 287 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 CCCAGCACTTCGGGTACACAG 0.617000 ITGAE 3682 broad.mit.edu 37 17 3631275 3631275 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:3631275A>T uc002fwo.3 - 26 3121 c.3022T>A c.(3022-3024)TGC>AGC p.C1008S NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 1008 Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GTTGGGACGCAAATTTGCAAC 0.433000 KCNAB3 9196 broad.mit.edu 37 17 7826435 7826435 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:7826435C>T uc002gjm.1 - 14 1200 c.1200G>A c.(1198-1200)CCG>CCA p.P400P KCNAB3_uc010vul.1_RNA NM_004732 NP_004723 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related 400 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(1) 1 Prostate(122;0.157) TCTTGGAATGCGGCTTGTTTC 0.677000 TEKT3 64518 broad.mit.edu 37 17 15211982 15211982 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:15211982G>A uc002gon.2 - 8 1442 c.1255C>T c.(1255-1257)CGC>TGC p.R419C NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 419 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) CCACCTTACCGTAGCTGAGCC 0.587000 UNC45B 146862 broad.mit.edu 37 17 33495277 33495277 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:33495277C>T uc002hja.2 + 10 1446 c.1349C>T c.(1348-1350)ACG>ATG p.T450M UNC45B_uc002hjb.2_Missense_Mutation_p.T450M|UNC45B_uc002hjc.2_Missense_Mutation_p.T450M|UNC45B_uc010cto.2_Missense_Mutation_p.T450M NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 450 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) CATGCCTCCACGAAGCTCAGC 0.552000 TMEM99 147184 broad.mit.edu 37 17 38990822 38990822 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:38990822T>C uc002hvj.1 + 3 361 c.54T>C c.(52-54)TGT>TGC p.C18C NM_145274 NP_660317 Q8N816 TMM99_HUMAN transmembrane protein 99 precursor 18 integral to membrane skin(1) 1 Breast(137;0.000301) CGCTCTGTTGTTCCAGCTATG 0.557000 KIF2B 84643 broad.mit.edu 37 17 51901928 51901928 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:51901928T>G uc002iua.2 + 1 1690 c.1534T>G c.(1534-1536)TCC>GCC p.S512A uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 512 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AGGCCAGAACTCCTCCACTTG 0.448000 CCDC46 201134 broad.mit.edu 37 17 64059183 64059183 + Silent SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:64059183A>C uc002jfl.2 - 11 1191 c.972T>G c.(970-972)CGT>CGG p.R324R CCDC46_uc010deo.2_Silent_p.R66R|CCDC46_uc002jfm.2_Silent_p.R324R|CCDC46_uc010dep.2_Silent_p.R282R NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 324 Potential. centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) CTTGACAGTCACGTATCAGTG 0.333000 ABCA5 23461 broad.mit.edu 37 17 67300886 67300886 + Missense_Mutation SNP G G A rs140650277 byFrequency TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:67300886G>A uc002jif.2 - 6 2072 c.854C>T c.(853-855)GCG>GTG p.A285V ABCA5_uc002jie.2_5'Flank|ABCA5_uc002jig.2_Missense_Mutation_p.A285V|ABCA5_uc002jih.2_Missense_Mutation_p.A285V|ABCA5_uc010dfe.2_Missense_Mutation_p.A285V NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 285 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) AGAAGCTGTCGCAATGACTGC 0.323000 ITGB4 3691 broad.mit.edu 37 17 73727404 73727404 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:73727404C>T uc002jpg.2 + 10 1357 c.1170C>T c.(1168-1170)TTC>TTT p.F390F ITGB4_uc002jph.2_Silent_p.F390F|ITGB4_uc010dgo.2_Silent_p.F390F|ITGB4_uc002jpi.3_Silent_p.F390F|ITGB4_uc010dgp.1_Silent_p.F390F|ITGB4_uc002jpj.2_Silent_p.F390F|ITGB4_uc010wsh.1_5'Flank NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 390 Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCAAGATGTTCCAGAAGACGA 0.642000 UBE2O 63893 broad.mit.edu 37 17 74396572 74396572 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr17:74396572C>T uc002jrm.3 - 7 1019 c.954G>A c.(952-954)ACG>ACA p.T318T UBE2O_uc002jrn.3_Silent_p.T318T|UBE2O_uc002jrl.3_5'Flank NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 318 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 TGACGCTGTCCGTGCCCCCTG 0.602000 COLEC12 81035 broad.mit.edu 37 18 333120 333120 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr18:333120A>C uc002kkm.2 - 7 2055 c.1840T>G c.(1840-1842)TTC>GTC p.F614V NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 614 Extracellular (Potential).|C-type lectin. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TTGTCTGTGAAGTTCTTCCAG 0.388000 LAMA1 284217 broad.mit.edu 37 18 7050779 7050779 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr18:7050779T>C uc002knm.2 - 4 596 c.502A>G c.(502-504)AGA>GGA p.R168G LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 168 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCCTCGTCTTGGAGTTATA 0.512000 LRRC30 339291 broad.mit.edu 37 18 7231390 7231390 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr18:7231390T>G uc010wzk.1 + 1 254 c.254T>G c.(253-255)GTT>GGT p.V85G NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 85 LRR 1. ovary(1)|liver(1) 2 CAGCTCCGGGTTCTCCCTCCC 0.587000 ASXL3 80816 broad.mit.edu 37 18 31319840 31319840 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr18:31319840G>A uc010dmg.1 + 11 2527 c.2472G>A c.(2470-2472)CCG>CCA p.P824P ASXL3_uc002kxq.2_Silent_p.P531P NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 824 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AAGCATTTCCGTCTGAAGATT 0.448000 RIT2 6014 broad.mit.edu 37 18 40323518 40323518 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr18:40323518T>G uc002lav.2 - 5 767 c.594A>C c.(592-594)AAA>AAC p.K198N RIT2_uc010dnf.2_3'UTR NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 198 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 ACAGGCTGTCTTTTCTCTTCA 0.398000 MUC16 94025 broad.mit.edu 37 19 9086015 9086015 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:9086015A>C uc002mkp.2 - 1 6004 c.5800T>G c.(5800-5802)TTA>GTA p.L1934V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1934 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCAATGTTAAGCTTATGGCC 0.483000 CPAMD8 27151 broad.mit.edu 37 19 17091456 17091456 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:17091456G>A uc002nfb.2 - 14 1609 c.1577C>T c.(1576-1578)CCC>CTC p.P526L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 479 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 AAAGTTGCAGGGACATGTGGA 0.582000 CILP2 148113 broad.mit.edu 37 19 19655627 19655627 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:19655627T>C uc002nmv.3 + 8 2358 c.2273T>C c.(2272-2274)GTG>GCG p.V758A CILP2_uc002nmw.3_Missense_Mutation_p.V764A NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 758 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GTGGAGGGCGTGGTGGTCACG 0.697000 ZNF486 90649 broad.mit.edu 37 19 20308606 20308606 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:20308606T>C uc002nou.2 + 4 1144 c.1087T>C c.(1087-1089)TCA>CCA p.S363P NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 363 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CACCCGCTCCTCACACCTTAC 0.418000 ZNF43 7594 broad.mit.edu 37 19 21992583 21992583 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:21992583A>C uc002nqj.2 - 4 386 c.256T>G c.(256-258)TTT>GTT p.F86V ZNF43_uc010ecv.2_Missense_Mutation_p.F80V|ZNF43_uc002nql.2_Missense_Mutation_p.F80V|ZNF43_uc002nqm.2_Missense_Mutation_p.F80V|ZNF43_uc002nqk.2_Missense_Mutation_p.F16V NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TCTGGCCAAAAGTCTTGGGTA 0.279000 ZNF99 7652 broad.mit.edu 37 19 22941726 22941726 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:22941726T>C uc010xrh.1 - 5 712 c.712A>G c.(712-714)AGA>GGA p.R238G NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGATGTTTTCTAAGGGCTGAG 0.383000 SNRPA 6626 broad.mit.edu 37 19 41263238 41263238 + Missense_Mutation SNP G G C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:41263238G>C uc002ooz.2 + 2 610 c.75G>C c.(73-75)GAG>GAC p.E25D SNRPA_uc002opa.2_5'UTR NM_004596 NP_004587 P09012 SNRPA_HUMAN small nuclear ribonucleoprotein polypeptide A 25 RRM 1. nucleoplasm|spliceosomal complex nucleotide binding|protein binding|RNA binding skin(2)|ovary(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCACTGCAGAGCTAAAAAAGT 0.507000 FPR2 2358 broad.mit.edu 37 19 52272262 52272262 + Silent SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:52272262T>G uc002pxr.2 + 2 396 c.351T>G c.(349-351)GGT>GGG p.G117G FPR2_uc002pxs.3_Silent_p.G117G|FPR2_uc010epf.2_Silent_p.G117G NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 117 Helical; Name=3; (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 TCTTGATTGGTTTCATTGCAC 0.512000 ZNF649 65251 broad.mit.edu 37 19 52394692 52394692 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:52394692G>A uc002pxy.2 - 5 965 c.697C>T c.(697-699)CCC>TCC p.P233S ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CACCCGTGGGGTTTCTCTCCT 0.507000 ZSCAN1 284312 broad.mit.edu 37 19 58565060 58565060 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr19:58565060C>T uc002qrc.1 + 6 1115 c.868C>T c.(868-870)CGG>TGG p.R290W NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 290 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCGAGGTGGGCGGCCCTTCCA 0.652000 MYT1L 23040 broad.mit.edu 37 2 1893207 1893207 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:1893207T>C uc002qxe.2 - 16 3153 c.2326A>G c.(2326-2328)AGC>GGC p.S776G MYT1L_uc002qxd.2_Missense_Mutation_p.S774G|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 776 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTGTTCATGCTGAGGTCCAGG 0.592000 ATP6V1C2 245973 broad.mit.edu 37 2 10912687 10912687 + Missense_Mutation SNP C C G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:10912687C>G uc002ras.2 + 8 698 c.589C>G c.(589-591)CAA>GAA p.Q197E ATP6V1C2_uc002rat.2_Missense_Mutation_p.Q197E NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 197 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) CTCACAATGGCAAAAAACCTA 0.512000 CENPO 79172 broad.mit.edu 37 2 25040575 25040575 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:25040575G>A uc002rfo.1 + 7 992 c.803G>A c.(802-804)CGA>CAA p.R268Q CENPO_uc002rfp.1_Missense_Mutation_p.R262Q|CENPO_uc002rfq.1_Missense_Mutation_p.R268Q NM_024322 NP_077298 Q9BU64 CENPO_HUMAN centromere protein O 268 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GAGGAGCAACGAGCATCTCAT 0.443000 OTX1 5013 broad.mit.edu 37 2 63283145 63283145 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:63283145G>A uc002scd.2 + 5 1007 c.759G>A c.(757-759)GCG>GCA p.A253A OTX1_uc010ypt.1_Silent_p.A187A NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 253 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) CATACCTAGCGCCCATGCACT 0.637000 ALMS1 7840 broad.mit.edu 37 2 73800417 73800417 + Missense_Mutation SNP C C G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:73800417C>G uc002sje.1 + 18 11527 c.11416C>G c.(11416-11418)CGA>GGA p.R3806G ALMS1_uc002sjf.1_Missense_Mutation_p.R3762G|ALMS1_uc002sjg.2_Missense_Mutation_p.R3192G|ALMS1_uc002sjh.1_Missense_Mutation_p.R3192G NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3804 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GTCACCCAGACGAATTAAATT 0.468000 CTNNA2 1496 broad.mit.edu 37 2 80646693 80646693 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:80646693A>C uc010ysh.1 + 8 1262 c.1257A>C c.(1255-1257)CAA>CAC p.Q419H CTNNA2_uc010yse.1_Missense_Mutation_p.Q419H|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q419H|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q419H|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q51H NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 419 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AATATGCCCAAGTTTTCCGTG 0.443000 PCDP1 200373 broad.mit.edu 37 2 120385314 120385314 + Silent SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:120385314G>T uc002tmb.2 + 17 1836 c.744G>T c.(742-744)CTG>CTT p.L248L PCDP1_uc010yyq.1_Silent_p.L378L NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 534 cilium calmodulin binding 0 Colorectal(110;0.196) AGGAGGTGCTGCCCTTCGCTT 0.547000 LRP1B 53353 broad.mit.edu 37 2 141201953 141201953 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:141201953A>G uc002tvj.1 - 65 11212 c.10240T>C c.(10240-10242)TTA>CTA p.L3414L NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3414 Extracellular (Potential).|LDL-receptor class A 23. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTACATCTTAAGTTTACTGGG 0.398000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141250226 141250226 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:141250226T>C uc002tvj.1 - 57 10043 c.9071A>G c.(9070-9072)GAG>GGG p.E3024G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3024 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTCCTTATCTCATGATGATC 0.343000 TSP Lung(27;0.18) ACVR2A 92 broad.mit.edu 37 2 148653912 148653912 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:148653912T>G uc002twg.2 + 3 367 c.98T>G c.(97-99)TTT>TGT p.F33C ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.F33C NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 33 Extracellular (Potential). activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGTCTTTTCTTTAATGCTAAT 0.338000 SCN1A 6323 broad.mit.edu 37 2 166893015 166893015 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:166893015A>C uc010zcz.1 - 16 2957 c.2939T>G c.(2938-2940)CTT>CGT p.L980R SCN1A_uc002udo.3_Missense_Mutation_p.L860R|SCN1A_uc010fpk.2_Missense_Mutation_p.L832R NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 991 Helical; Name=S6 of repeat II; (By similarity).|II. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGAGCTCAGAAGCAAGGCCAG 0.373000 TTN 7273 broad.mit.edu 37 2 179437107 179437107 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:179437107T>C uc010zfg.1 - 275 66272 c.66048A>G c.(66046-66048)CAA>CAG p.Q22016Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Q15711Q|TTN_uc010zfi.1_Silent_p.Q15644Q|TTN_uc010zfj.1_Silent_p.Q15519Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22943 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) TACAGCCTTCTTGAAGCTGGT 0.438000 TTN 7273 broad.mit.edu 37 2 179472135 179472135 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:179472135T>G uc010zfg.1 - 226 45800 c.45576A>C c.(45574-45576)GAA>GAC p.E15192D uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8887D|TTN_uc010zfi.1_Missense_Mutation_p.E8820D|TTN_uc010zfj.1_Missense_Mutation_p.E8695D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16119 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) TACCAAAAACTTCTACCCTGG 0.383000 TTN 7273 broad.mit.edu 37 2 179635310 179635310 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:179635310C>T uc010zfg.1 - 35 8433 c.8209G>A c.(8209-8211)GGT>AGT p.G2737S TTN_uc010zfh.1_Missense_Mutation_p.G2691S|TTN_uc010zfi.1_Missense_Mutation_p.G2691S|TTN_uc010zfj.1_Missense_Mutation_p.G2691S|TTN_uc002unb.2_Missense_Mutation_p.G2737S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2737 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) CACTGGACACCTTTGACATTA 0.403000 ZNF804A 91752 broad.mit.edu 37 2 185802505 185802505 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:185802505A>C uc002uph.2 + 4 2976 c.2382A>C c.(2380-2382)GAA>GAC p.E794D NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 794 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TACCAGAAGAATTTTTGAGGC 0.383000 NAB1 4664 broad.mit.edu 37 2 191524263 191524263 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:191524263C>T uc002usb.2 + 4 933 c.361C>T c.(361-363)CGG>TGG p.R121W NAB1_uc010fsc.2_Missense_Mutation_p.R121W|NAB1_uc010fsd.2_Missense_Mutation_p.R121W|NAB1_uc002usc.2_Missense_Mutation_p.R121W|NAB1_uc010zgh.1_Missense_Mutation_p.R121W NM_005966 NP_005957 Q13506 NAB1_HUMAN NGFI-A binding protein 1 121 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) TAGCAATGCCCGGGAACCTCA 0.498000 FEV 54738 broad.mit.edu 37 2 219846688 219846688 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:219846688C>T uc002vji.1 - 3 1000 c.418G>A c.(418-420)GCG>ACG p.A140T NM_017521 NP_059991 Q99581 FEV_HUMAN FEV (ETS oncogene family) 140 May mediate active transcriptional repression.|Ala-rich. cell differentiation|nervous system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity EWSR1/FEV(10)|FUS/FEV(2) bone(10)|soft_tissue(2) 12 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAGCGTGCGCGGGCGGCGGC 0.557000 T EWSR1| FUS Ewing sarcoma PAX3 5077 broad.mit.edu 37 2 223085988 223085988 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr2:223085988G>A uc010fwo.2 - 6 1277 c.911C>T c.(910-912)ACG>ATG p.T304M PAX3_uc002vmt.1_Missense_Mutation_p.T304M|PAX3_uc002vmy.1_Missense_Mutation_p.T303M|PAX3_uc002vmv.1_Missense_Mutation_p.T304M|PAX3_uc002vmw.1_Missense_Mutation_p.T304M|PAX3_uc002vmx.1_Missense_Mutation_p.T304M NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 304 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGCTGGTACGTTGGCAAGGT 0.537000 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome NOP56 10528 broad.mit.edu 37 20 2635158 2635158 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr20:2635158G>A uc002wgh.2 + 4 360 c.307G>A c.(307-309)GCA>ACA p.A103T NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'UTR|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 103 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 GATTGGTGCCGCAATACAGGA 0.517000 SLC32A1 140679 broad.mit.edu 37 20 37356678 37356678 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr20:37356678C>T uc002xjc.2 + 2 1237 c.974C>T c.(973-975)TCG>TTG p.S325L NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 325 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TTCCTGCCTTCGCTGGAGGGC 0.572000 ADRBK2 157 broad.mit.edu 37 22 26100174 26100174 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr22:26100174C>T uc003abx.3 + 15 1473 c.1326C>T c.(1324-1326)GGC>GGT p.G442G ADRBK2_uc010gux.2_Silent_p.G442G|ADRBK2_uc003abw.2_Silent_p.G329G|ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 442 Protein kinase. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) GTCACGGAGGCGGGTAGGCCA 0.463000 ZMAT5 55954 broad.mit.edu 37 22 30136716 30136716 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr22:30136716T>G uc003agm.2 - 5 445 c.194A>C c.(193-195)CAG>CCG p.Q65P ZMAT5_uc003agn.2_Missense_Mutation_p.Q65P NM_019103 NP_061976 Q9UDW3 ZMAT5_HUMAN zinc finger, matrin type 5 65 C3H1-type. mRNA processing cytoplasm|U12-type spliceosomal complex nucleic acid binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574) AAAGTCGCACTGGCCTGCAGC 0.622000 TMPRSS6 164656 broad.mit.edu 37 22 37482353 37482353 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr22:37482353C>T uc003aqs.1 - 8 1084 c.970G>A c.(970-972)GTG>ATG p.V324M TMPRSS6_uc003aqt.1_Missense_Mutation_p.V315M|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V315M NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 324 CUB 1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 ACGGAGAGCACGAAGGGGTCG 0.677000 CACNA1I 8911 broad.mit.edu 37 22 40055734 40055734 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr22:40055734C>T uc003ayc.2 + 14 2481 c.2481C>T c.(2479-2481)CTC>CTT p.L827L CACNA1I_uc003ayd.2_Silent_p.L792L|CACNA1I_uc003aye.2_Silent_p.L742L|CACNA1I_uc003ayf.2_Silent_p.L707L NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 827 Extracellular (Potential).|II. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ACGTCGTTCTCTACAATGGCA 0.582000 MPPED1 758 broad.mit.edu 37 22 43831011 43831011 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr22:43831011C>T uc011apv.1 + 3 505 c.282C>T c.(280-282)TGC>TGT p.C94C MPPED1_uc011apw.1_5'UTR|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Silent_p.C94C|MPPED1_uc011apz.1_Silent_p.C127C NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 94 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) GCTTCGTCTGCGTCTCTGATA 0.652000 KCNH8 131096 broad.mit.edu 37 3 19575469 19575469 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:19575469T>G uc003cbk.1 + 16 3397 c.3202T>G c.(3202-3204)TTA>GTA p.L1068V KCNH8_uc010hex.1_Missense_Mutation_p.L529V NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 1068 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TCTGGAAAACTTACCAGGATC 0.483000 MYRIP 25924 broad.mit.edu 37 3 40275351 40275351 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:40275351A>C uc003cka.2 + 12 2042 c.1907A>C c.(1906-1908)AAG>ACG p.K636T MYRIP_uc010hhu.2_Intron|MYRIP_uc010hhv.2_Intron|MYRIP_uc010hhw.2_Missense_Mutation_p.K547T|MYRIP_uc011ayz.1_Missense_Mutation_p.K449T|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 636 Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACCAAACAGAAGTTTTCTGCT 0.443000 NBEAL2 23218 broad.mit.edu 37 3 47049917 47049917 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:47049917C>T uc003cqp.2 + 51 8043 c.7864C>T c.(7864-7866)CGT>TGT p.R2622C NBEAL2_uc010hjm.1_Missense_Mutation_p.R1999C|NBEAL2_uc010hjn.1_Missense_Mutation_p.R988C|NBEAL2_uc010hjo.1_Missense_Mutation_p.R182C NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2622 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) AGCGTGGGAACGTCCTGGGGC 0.607000 GRM2 2912 broad.mit.edu 37 3 51746766 51746766 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:51746766G>A uc010hlv.2 + 3 967 c.728G>A c.(727-729)CGT>CAT p.R243H GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 243 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AAAGTGGGCCGTGCCATGAGC 0.652000 PRICKLE2 166336 broad.mit.edu 37 3 64085187 64085187 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:64085187C>T uc003dmf.2 - 8 2661 c.2075G>A c.(2074-2076)CGC>CAC p.R692H NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 692 Arg-rich. cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) GGAGCGAGAGCGTCGGGAACG 0.627000 ADAMTS9 56999 broad.mit.edu 37 3 64619467 64619467 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:64619467A>C uc003dmg.2 - 13 1977 c.1945T>G c.(1945-1947)TTC>GTC p.F649V ADAMTS9_uc011bfo.1_Missense_Mutation_p.F621V|ADAMTS9_uc003dmh.1_Missense_Mutation_p.F478V|ADAMTS9_uc003dmk.1_Missense_Mutation_p.F649V NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 649 Cys-rich. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCATCTCGGAAGTCTCGCTTC 0.443000 CNTN3 5067 broad.mit.edu 37 3 74418456 74418456 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:74418456T>G uc003dpm.1 - 7 910 c.830A>C c.(829-831)AAG>ACG p.K277T NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 277 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ACCACTGAACTTCCTTAATTT 0.413000 EPHA3 2042 broad.mit.edu 37 3 89176408 89176408 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:89176408T>C uc003dqy.2 + 2 363 c.138T>C c.(136-138)TCT>TCC p.S46S EPHA3_uc003dqx.1_Silent_p.S46S|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 46 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GCTGGATCTCTTATCCATCAC 0.338000 TSP Lung(6;0.00050) STXBP5L 9515 broad.mit.edu 37 3 120764302 120764302 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:120764302T>G uc003eec.3 + 5 530 c.390T>G c.(388-390)AGT>AGG p.S130R STXBP5L_uc011bji.1_Missense_Mutation_p.S130R NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 130 WD 2. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) TCAGTGCAAGTTCAGATGATA 0.348000 STXBP5L 9515 broad.mit.edu 37 3 120977937 120977937 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:120977937T>G uc003eec.3 + 18 2020 c.1880T>G c.(1879-1881)CTT>CGT p.L627R STXBP5L_uc011bji.1_Missense_Mutation_p.L627R NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 627 WD 9. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) CAAGCAGAACTTGTTATTCAA 0.363000 RASA2 5922 broad.mit.edu 37 3 141305575 141305575 + Silent SNP C C T rs138963413 TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:141305575C>T uc003etz.1 + 19 1914 c.1914C>T c.(1912-1914)CTC>CTT p.L638L RASA2_uc010huq.1_Silent_p.L638L|RASA2_uc003eua.1_Silent_p.L638L|RASA2_uc011bnc.1_Silent_p.L230L NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 638 PH. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 GCAGAGAGCTCACCTACCACA 0.408000 DHX36 170506 broad.mit.edu 37 3 153995437 153995437 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:153995437C>T uc003ezy.3 - 23 2719 c.2638G>A c.(2638-2640)GAC>AAC p.D880N DHX36_uc010hvq.2_Missense_Mutation_p.D866N|DHX36_uc003ezz.3_Missense_Mutation_p.D851N NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 880 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TAGTGAAAGTCTGTTTGCTCC 0.333000 PPP2R2C 5522 broad.mit.edu 37 4 6335368 6335368 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:6335368C>T uc003gjc.2 - 7 1251 c.881G>A c.(880-882)CGC>CAC p.R294H PPP2R2C_uc003gjb.2_Missense_Mutation_p.R277H|PPP2R2C_uc011bwd.1_Missense_Mutation_p.R287H|PPP2R2C_uc011bwe.1_Missense_Mutation_p.R287H|PPP2R2C_uc003gja.2_Missense_Mutation_p.R294H|PPP2R2C_uc003gjd.1_Missense_Mutation_p.R382H NM_020416 NP_065149 Q9Y2T4 2ABG_HUMAN gamma isoform of regulatory subunit B55, protein 294 WD 5. signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 GAGCATGTAGCGGCCGCTGTG 0.567000 OREG0016071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLC34A2 10568 broad.mit.edu 37 4 25677985 25677985 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:25677985G>A uc003grr.2 + 13 1768 c.1687G>A c.(1687-1689)GTC>ATC p.V563I SLC34A2_uc003grs.2_Missense_Mutation_p.V562I|SLC34A2_uc010iev.2_Missense_Mutation_p.V562I NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 563 Helical; Name=M8; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) GGTTCCCGTCGTCTTCATCAT 0.602000 EPHA5 2044 broad.mit.edu 37 4 66356149 66356149 + Silent SNP A A G rs142589245 TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:66356149A>G uc003hcy.2 - 5 1541 c.1348T>C c.(1348-1350)TTG>CTG p.L450L EPHA5_uc003hcx.2_Silent_p.L381L|EPHA5_uc003hcz.2_Silent_p.L450L|EPHA5_uc011cah.1_Silent_p.L450L|EPHA5_uc011cai.1_Silent_p.L450L|EPHA5_uc003hda.2_Silent_p.L450L NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 450 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 CCTGGGCTCAAGTCGGACACT 0.498000 TSP Lung(17;0.13) UNC5C 8633 broad.mit.edu 37 4 96140209 96140209 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:96140209T>G uc003htp.1 - 9 1710 c.1556A>C c.(1555-1557)AAC>ACC p.N519T UNC5C_uc010ilc.1_Missense_Mutation_p.N538T|UNC5C_uc003htq.2_Missense_Mutation_p.N538T NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 519 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TAGACTCTGGTTCTTCAGGCT 0.522000 DDIT4L 115265 broad.mit.edu 37 4 101108874 101108874 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:101108874A>G uc003hvq.2 - 3 745 c.542T>C c.(541-543)CTT>CCT p.L181P NM_145244 NP_660287 Q96D03 DDT4L_HUMAN DNA-damage-inducible transcript 4-like 181 negative regulation of signal transduction cytoplasm ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;5.75e-09) CAGTGAGTAAAGTTTTTTCTT 0.378000 SEC24B 10427 broad.mit.edu 37 4 110447513 110447513 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:110447513T>G uc003hzk.2 + 17 2978 c.2923T>G c.(2923-2925)TTA>GTA p.L975V SEC24B_uc003hzl.2_Missense_Mutation_p.L940V|SEC24B_uc011cfp.1_Missense_Mutation_p.L1005V|SEC24B_uc011cfq.1_Missense_Mutation_p.L974V|SEC24B_uc011cfr.1_Missense_Mutation_p.L939V NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 975 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) AGATACTTCCTTAGTATGTTT 0.373000 NDST4 64579 broad.mit.edu 37 4 115898357 115898357 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:115898357T>G uc003ibu.2 - 3 1731 c.1052A>C c.(1051-1053)AAG>ACG p.K351T NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 351 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) GTGGTAAAACTTCCCTGAAAA 0.338000 FAT4 79633 broad.mit.edu 37 4 126237573 126237573 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:126237573T>G uc003ifj.3 + 1 7 c.7T>G c.(7-9)TTA>GTA p.L3V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GACCATGGACTTAGCACCAGA 0.512000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAT4 79633 broad.mit.edu 37 4 126370493 126370493 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:126370493T>C uc003ifj.3 + 9 8322 c.8322T>C c.(8320-8322)TCT>TCC p.S2774S FAT4_uc011cgp.1_Silent_p.S1072S|FAT4_uc003ifi.1_Silent_p.S252S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2774 Cadherin 27.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CTAGGTTTTCTCAGATATTTA 0.383000 TDO2 6999 broad.mit.edu 37 4 156838589 156838589 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:156838589T>C uc003ipf.1 + 10 1003 c.939T>C c.(937-939)TCT>TCC p.S313S NM_005651 NP_005642 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 313 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity 0 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TGCTGACTTCTCTTATGGACA 0.393000 FSTL5 56884 broad.mit.edu 37 4 162508614 162508614 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:162508614T>C uc003iqh.2 - 8 1444 c.1008A>G c.(1006-1008)CAA>CAG p.Q336Q FSTL5_uc003iqi.2_Silent_p.Q335Q|FSTL5_uc010iqv.2_Silent_p.Q335Q NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 336 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TACCATTCACTTGGAAGATGT 0.373000 SPOCK3 50859 broad.mit.edu 37 4 167833778 167833778 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:167833778G>A uc003iri.1 - 6 617 c.476C>T c.(475-477)TCT>TTT p.S159F SPOCK3_uc011cjp.1_Missense_Mutation_p.S156F|SPOCK3_uc011cjq.1_Missense_Mutation_p.S168F|SPOCK3_uc011cjr.1_Missense_Mutation_p.S39F|SPOCK3_uc003irj.1_Missense_Mutation_p.S156F|SPOCK3_uc011cjs.1_Missense_Mutation_p.S108F|SPOCK3_uc011cjt.1_Missense_Mutation_p.S67F|SPOCK3_uc011cju.1_Missense_Mutation_p.S52F|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.S156F|SPOCK3_uc011cjw.1_Intron NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 159 Kazal-like. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TACCTGAAAAGAGTAGGTATG 0.413000 TRIML1 339976 broad.mit.edu 37 4 189060646 189060646 + Translation_Start_Site SNP C C T rs146418787 by1000genomes TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr4:189060646C>T uc003izm.1 + 1 49 c.-66C>T c.(-68--64)GACGG>GATGG NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AACTGTAGGACGGCAGTGAGG 0.483000 CDH18 1016 broad.mit.edu 37 5 19473497 19473497 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:19473497A>G uc003jgc.2 - 12 2588 c.2211T>C c.(2209-2211)ACT>ACC p.T737T CDH18_uc003jgd.2_Silent_p.T737T|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 737 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CATAGGCATAAGTCTGAAGAG 0.483000 CDH12 1010 broad.mit.edu 37 5 21755750 21755750 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:21755750A>G uc010iuc.2 - 11 2293 c.1835T>C c.(1834-1836)CTT>CCT p.L612P CDH12_uc011cno.1_Missense_Mutation_p.L572P|CDH12_uc003jgk.2_Missense_Mutation_p.L612P|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 612 Helical; (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCCAGTGCTAAGTCCTACAGG 0.348000 HNSCC(59;0.17) SPEF2 79925 broad.mit.edu 37 5 35763665 35763665 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:35763665T>G uc003jjo.2 + 26 3773 c.3662T>G c.(3661-3663)GTT>GGT p.V1221G SPEF2_uc003jjp.1_Missense_Mutation_p.V707G NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1221 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGGAAACAGTTACACCCAAA 0.358000 EGFLAM 133584 broad.mit.edu 37 5 38425137 38425137 + Missense_Mutation SNP G G T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:38425137G>T uc003jlc.1 + 13 2077 c.1753G>T c.(1753-1755)GCC>TCC p.A585S EGFLAM_uc003jlb.1_Missense_Mutation_p.A585S|EGFLAM_uc003jle.1_Missense_Mutation_p.A351S|EGFLAM_uc003jlf.1_5'UTR NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 585 EGF-like 2. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) AGCAATCAAAGCCGACTCCTA 0.478000 GHR 2690 broad.mit.edu 37 5 42689103 42689103 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:42689103A>G uc003jmt.2 + 4 291 c.248A>G c.(247-249)CAG>CGG p.Q83R GHR_uc011cpq.1_Intron NM_000163 NP_000154 P10912 GHR_HUMAN growth hormone receptor precursor 83 Extracellular (Potential). 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding lung(4)|kidney(1)|skin(1) 6 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GGACCCATACAGCTGTTCTAT 0.463000 MARVELD2 153562 broad.mit.edu 37 5 68715518 68715518 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:68715518G>A uc003jwq.2 + 2 365 c.306G>A c.(304-306)CCG>CCA p.P102P MARVELD2_uc010ixf.2_Silent_p.P102P|MARVELD2_uc003jwr.1_Silent_p.P102P|MARVELD2_uc003jws.1_RNA NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 102 Cytoplasmic (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) GGGATAAGCCGGTGTCTGATA 0.522000 KCNN2 3781 broad.mit.edu 37 5 113740388 113740388 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:113740388T>G uc003kqo.2 + 3 1293 c.836T>G c.(835-837)CTT>CGT p.L279R NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 279 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CATAGCAAACTTTTCACTGAT 0.378000 PDLIM4 8572 broad.mit.edu 37 5 131606705 131606705 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:131606705G>A uc003kwn.2 + 4 502 c.425G>A c.(424-426)CGC>CAC p.R142H uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.R142H|PDLIM4_uc003kwo.2_Missense_Mutation_p.R142H NM_003687 NP_003678 P50479 PDLI4_HUMAN PDZ and LIM domain 4 isoform 1 142 protein binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAACCCCCTCGCTTTCCAGTC 0.632000 KDM3B 51780 broad.mit.edu 37 5 137717277 137717277 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:137717277G>A uc003lcy.1 + 6 978 c.778G>A c.(778-780)GAG>AAG p.E260K KDM3B_uc010jew.1_5'UTR NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN jumonji domain containing 1B 260 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1) 11 GCCTCAAAGCGAGGTACAGTA 0.433000 PCDHB6 56130 broad.mit.edu 37 5 140532003 140532003 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:140532003G>A uc003lir.2 + 1 2165 c.2165G>A c.(2164-2166)CGC>CAC p.R722H PCDHB6_uc011dah.1_Missense_Mutation_p.R586H NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 722 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGTGGGTCGCTACTCGGTG 0.652000 PCDHGA8 9708 broad.mit.edu 37 5 140772818 140772818 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:140772818G>A uc003lkd.1 + 1 1336 c.438G>A c.(436-438)GCG>GCA p.A146A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.A146A NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 146 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGAAATCGCGGTTCCTGGAG 0.453000 GABRA6 2559 broad.mit.edu 37 5 161113274 161113274 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:161113274A>C uc003lyu.2 + 2 415 c.77A>C c.(76-78)AAC>ACC p.N26T NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 26 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTTGAAGGCAACTTCTACTCA 0.478000 TCGA Ovarian(5;0.080) FAM153B 202134 broad.mit.edu 37 5 175526047 175526047 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:175526047C>T uc003mdk.2 + 10 618 c.561C>T c.(559-561)AAC>AAT p.N187N NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN hypothetical protein LOC202134 187 ovary(1) 1 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) TCCAAACCAACGGTACGTATT 0.448000 GRM6 2916 broad.mit.edu 37 5 178416042 178416042 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr5:178416042G>A uc003mjr.2 - 6 1427 c.1248C>T c.(1246-1248)CAC>CAT p.H416H GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Silent_p.H36H NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 416 Extracellular (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GGTGCATGCTGTGGAGGGCGT 0.637000 ZNF311 282890 broad.mit.edu 37 6 28963238 28963238 + Missense_Mutation SNP A A T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:28963238A>T uc003nlu.2 - 7 2054 c.1541T>A c.(1540-1542)CTT>CAT p.L514H ZNF311_uc011dlk.1_Missense_Mutation_p.L422H|ZNF311_uc003nlv.2_Missense_Mutation_p.L422H NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 514 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 ATGGATGGTAAGGCAGTGCTT 0.463000 OR12D2 26529 broad.mit.edu 37 6 29364723 29364723 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:29364723T>G uc003nmf.3 + 1 308 c.247T>G c.(247-249)TTT>GTT p.F83V NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GCTGCAGAACTTTCTCTCTAC 0.468000 C6orf134 79969 broad.mit.edu 37 6 30596123 30596123 + Silent SNP G G A rs139657037 TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:30596123G>A uc003nqu.2 + 6 503 c.453G>A c.(451-453)CCG>CCA p.P151P C6orf134_uc003nqr.3_Silent_p.P151P|C6orf134_uc003rdc.2_Silent_p.P151P|C6orf134_uc003nqs.3_Silent_p.P151P|C6orf134_uc003rdd.2_Silent_p.P151P|C6orf134_uc003nqt.2_RNA|C6orf134_uc011dmm.1_Silent_p.P139P|C6orf134_uc003nqv.2_Silent_p.P139P NM_024909 NP_079185 Q5SQI0 ATAT_HUMAN hypothetical protein LOC79969 isoform 2 151 tubulin N-acetyltransferase activity 0 GAGTGGAACCGCACCAACTGG 0.522000 HLA-DOA 3111 broad.mit.edu 37 6 32975992 32975992 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:32975992G>A uc003ocr.2 - 2 205 c.129C>T c.(127-129)GGC>GGT p.G43G HLA-DOA_uc010juj.2_Silent_p.G13G|HLA-DOA_uc010jui.2_Silent_p.G43G NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 43 Extracellular (Potential).|Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 GGCCCGAGGCGCCGTAAGACT 0.537000 DNAH8 1769 broad.mit.edu 37 6 38919111 38919111 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:38919111G>A uc003ooe.1 + 80 12215 c.11615G>A c.(11614-11616)CGT>CAT p.R3872H DNAH8_uc003oog.1_Missense_Mutation_p.R321H|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TGCCCAGACCGTACTGTTTTT 0.338000 MEP1A 4224 broad.mit.edu 37 6 46777187 46777187 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:46777187C>T uc010jzh.1 + 6 335 c.293C>T c.(292-294)GCC>GTC p.A98V MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.A126V|MEP1A_uc011dwi.1_5'UTR NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 98 Extracellular (Potential).|Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) ATTCTGTATGCCTTTGAGATG 0.363000 KHDRBS2 202559 broad.mit.edu 37 6 62757869 62757869 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:62757869T>C uc003peg.2 - 3 497 c.250A>G c.(250-252)AGA>GGA p.R84G NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 84 KH. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) GAGTTTCCTCTTGGTCCAAGC 0.368000 COL12A1 1303 broad.mit.edu 37 6 75838046 75838046 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:75838046T>C uc003phs.2 - 38 6472 c.6306A>G c.(6304-6306)GGA>GGG p.G2102G COL12A1_uc003pht.2_Silent_p.G938G NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2102 Fibronectin type-III 16. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GGCCACCATCTCCATCTTCAT 0.378000 GRIK2 2898 broad.mit.edu 37 6 102069857 102069857 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr6:102069857T>G uc003pqp.3 + 2 398 c.149T>G c.(148-150)ATG>AGG p.M50R GRIK2_uc003pqn.2_Missense_Mutation_p.M50R|GRIK2_uc003pqo.3_Missense_Mutation_p.M50R|GRIK2_uc010kcw.2_Missense_Mutation_p.M50R NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 50 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TCTGGCCCAATGGGAGCTGAG 0.343000 DNAH11 8701 broad.mit.edu 37 7 21826307 21826307 + Silent SNP C C A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr7:21826307C>A uc003svc.2 + 60 9715 c.9684C>A c.(9682-9684)GCC>GCA p.A3228A NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3228 Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTACTGCAGCCGTGATGGTCC 0.517000 Kartagener_syndrome ANLN 54443 broad.mit.edu 37 7 36492149 36492149 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr7:36492149T>C uc003tff.2 + 24 3519 c.3315T>C c.(3313-3315)GTT>GTC p.V1105V ANLN_uc011kaz.1_Silent_p.V1017V|ANLN_uc003tfg.2_Silent_p.V1068V|ANLN_uc010kxe.2_Silent_p.V1067V NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 1105 PH.|Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 TCAATCAAGTTCTTGTTGATA 0.423000 ELMO1 9844 broad.mit.edu 37 7 37354471 37354471 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr7:37354471A>C uc003tfk.1 - 4 482 c.175T>G c.(175-177)TTC>GTC p.F59V ELMO1_uc010kxg.1_Missense_Mutation_p.F59V NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 59 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GTGATATAGAAGTTTGAACTA 0.358000 TXNDC3 51314 broad.mit.edu 37 7 37924817 37924817 + Silent SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr7:37924817A>C uc003tfn.2 + 14 1582 c.1210A>C c.(1210-1212)AGA>CGA p.R404R NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 404 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 ACTGGGACCAAGAACTGTTGA 0.383000 Kartagener_syndrome WBSCR17 64409 broad.mit.edu 37 7 70885974 70885974 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr7:70885974A>C uc003tvy.2 + 5 845 c.845A>C c.(844-846)AAC>ACC p.N282T WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 282 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AAACAGGACAACTTTGAGGTG 0.557000 CHRM2 1129 broad.mit.edu 37 7 136700432 136700432 + Missense_Mutation SNP T T A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr7:136700432T>A uc003vtf.1 + 4 1443 c.820T>A c.(820-822)TGT>AGT p.C274S CHRM2_uc003vtg.1_Missense_Mutation_p.C274S|CHRM2_uc003vtj.1_Missense_Mutation_p.C274S|CHRM2_uc003vtk.1_Missense_Mutation_p.C274S|CHRM2_uc003vtl.1_Missense_Mutation_p.C274S|CHRM2_uc003vtm.1_Missense_Mutation_p.C274S|CHRM2_uc003vti.1_Missense_Mutation_p.C274S|CHRM2_uc003vto.1_Missense_Mutation_p.C274S|CHRM2_uc003vtn.1_Missense_Mutation_p.C274S|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 274 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GACTGAAAACTGTGTTCAGGG 0.483000 TMEM176B 28959 broad.mit.edu 37 7 150493578 150493578 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr7:150493578A>G uc003wht.3 - 2 246 c.80T>C c.(79-81)ATC>ACC p.I27T TMEM176B_uc003whu.3_Missense_Mutation_p.I27T|TMEM176B_uc003whv.3_Missense_Mutation_p.I27T|TMEM176B_uc003whw.3_Missense_Mutation_p.I27T NM_001101313 NP_001094783 Q3YBM2 T176B_HUMAN transmembrane protein 176B isoform a 27 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCTGGTGGATGTGGACGTT 0.537000 DLGAP2 9228 broad.mit.edu 37 8 1626407 1626407 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:1626407C>T uc003wpl.2 + 9 2173 c.2076C>T c.(2074-2076)AGC>AGT p.S692S DLGAP2_uc003wpm.2_Silent_p.S678S NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 771 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GTTCTAACAGCGTCACGGCCG 0.562000 CSMD1 64478 broad.mit.edu 37 8 2949052 2949052 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:2949052T>G uc011kwk.1 - 48 7664 c.7274A>C c.(7273-7275)AAG>ACG p.K2425T CSMD1_uc011kwj.1_Missense_Mutation_p.K1754T|CSMD1_uc010lrg.2_Missense_Mutation_p.K493T NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2425 CUB 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATAGCGAATCTTGAATCCTTT 0.313000 SOX7 83595 broad.mit.edu 37 8 10583717 10583717 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:10583717C>T uc003wtf.2 - 2 777 c.698G>A c.(697-699)CGC>CAC p.R233H SOX7_uc011kwz.1_Missense_Mutation_p.R285H NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 233 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GTGGGGGATGCGGCGGGGATG 0.692000 MSR1 4481 broad.mit.edu 37 8 16026107 16026107 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:16026107A>G uc003wwz.2 - 4 688 c.490T>C c.(490-492)TCC>CCC p.S164P MSR1_uc010lsu.2_Missense_Mutation_p.S182P|MSR1_uc003wxa.2_Missense_Mutation_p.S164P|MSR1_uc003wxb.2_Missense_Mutation_p.S164P|MSR1_uc011kxz.1_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 164 Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TGGACTGAGGAAAACAAGGTA 0.388000 FGFR1 2260 broad.mit.edu 37 8 38279423 38279423 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:38279423C>T uc003xlp.2 - 8 1915 c.973G>A c.(973-975)GTG>ATG p.V325M FGFR1_uc011lbo.1_Missense_Mutation_p.V323M|FGFR1_uc011lbp.1_Missense_Mutation_p.V236M|FGFR1_uc011lbq.1_Missense_Mutation_p.V234M|FGFR1_uc010lwk.2_Missense_Mutation_p.V317M|FGFR1_uc011lbr.1_RNA|FGFR1_uc011lbs.1_Missense_Mutation_p.V165M|FGFR1_uc011lbt.1_Intron|FGFR1_uc011lbu.1_Missense_Mutation_p.V356M|FGFR1_uc011lbv.1_Missense_Mutation_p.V323M|FGFR1_uc011lbw.1_Missense_Mutation_p.V236M|FGFR1_uc011lbx.1_Missense_Mutation_p.V236M NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 325 Ig-like C2-type 3.|Extracellular (Potential). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) AAGTGAAGCACCTCCATCTCT 0.498000 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome SGK196 84197 broad.mit.edu 37 8 42958728 42958728 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:42958728G>A uc003xpw.2 + 4 296 c.37G>A c.(37-39)GCC>ACC p.A13T NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 13 integral to membrane ATP binding|protein kinase activity 0 GAGAGGCCTCGCCCCCCGAGA 0.542000 OPRK1 4986 broad.mit.edu 37 8 54142200 54142200 + Missense_Mutation SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:54142200C>T uc003xrh.1 - 3 1175 c.800G>A c.(799-801)CGC>CAC p.R267H OPRK1_uc003xri.1_Missense_Mutation_p.R267H|OPRK1_uc010lyc.1_Missense_Mutation_p.R178H NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 267 Cytoplasmic (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) ACGCAGGTTGCGATCTTTCTC 0.572000 OPRK1 4986 broad.mit.edu 37 8 54147490 54147490 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:54147490A>C uc003xrh.1 - 2 814 c.439T>G c.(439-441)TTC>GTC p.F147V OPRK1_uc003xri.1_Missense_Mutation_p.F147V|OPRK1_uc010lyc.1_Missense_Mutation_p.F58V NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 147 Helical; Name=3; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GTCAAGGTGAAGATGCTGGTG 0.473000 PREX2 80243 broad.mit.edu 37 8 69058469 69058469 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:69058469A>C uc003xxv.1 + 34 4140 c.4113A>C c.(4111-4113)GAA>GAC p.E1371D NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1371 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ATCAAGCAGAAGGAAGTCGGC 0.323000 SULF1 23213 broad.mit.edu 37 8 70536271 70536271 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:70536271A>C uc010lza.1 + 15 2406 c.1689A>C c.(1687-1689)GAA>GAC p.E563D SULF1_uc003xyd.2_Missense_Mutation_p.E563D|SULF1_uc003xye.2_Missense_Mutation_p.E563D|SULF1_uc003xyf.2_Missense_Mutation_p.E563D|SULF1_uc003xyg.2_Missense_Mutation_p.E563D|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 563 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AAGAAGAAGAAGAATTGCAAG 0.463000 NECAB1 64168 broad.mit.edu 37 8 91937774 91937774 + Missense_Mutation SNP C C A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:91937774C>A uc011lgg.1 + 7 700 c.506C>A c.(505-507)GCC>GAC p.A169D NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 169 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) CAAGGGCCAGCCAAGCCAGAA 0.478000 RIMS2 9699 broad.mit.edu 37 8 104898091 104898091 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:104898091A>C uc003yls.2 + 2 839 c.598A>C c.(598-600)AGT>CGT p.S200R RIMS2_uc003ylp.2_Missense_Mutation_p.S422R|RIMS2_uc003ylw.2_Missense_Mutation_p.S230R|RIMS2_uc003ylq.2_Missense_Mutation_p.S230R|RIMS2_uc003ylr.2_Missense_Mutation_p.S230R NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 453 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCAGGGACCAAGTTCTTATGC 0.483000 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:104898096T>G uc003yls.2 + 2 844 c.603T>G c.(601-603)TCT>TCG p.S201S RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 454 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.S231S(1) ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GACCAAGTTCTTATGCACAAA 0.478000 HNSCC(12;0.0054) RIMS2 9699 broad.mit.edu 37 8 105260951 105260951 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:105260951T>C uc003yls.2 + 25 3794 c.3553T>C c.(3553-3555)TTG>CTG p.L1185L RIMS2_uc003ylp.2_Silent_p.L1167L|RIMS2_uc003ylw.2_Silent_p.L1174L|RIMS2_uc003ylq.2_Silent_p.L981L|RIMS2_uc003ylr.2_Silent_p.L1006L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1229 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGTGTTCGCTTGGCCTCTGA 0.463000 HNSCC(12;0.0054) LRP12 29967 broad.mit.edu 37 8 105503202 105503202 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:105503202A>G uc003yma.2 - 7 2374 c.2279T>C c.(2278-2280)CTT>CCT p.L760P LRP12_uc003ymb.2_Missense_Mutation_p.L741P|LRP12_uc003ylz.2_Missense_Mutation_p.L166P NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 760 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CCCATTATCAAGTTGTCTCAA 0.428000 TRHR 7201 broad.mit.edu 37 8 110131681 110131681 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:110131681T>G uc003ymz.3 + 2 1210 c.1194T>G c.(1192-1194)AGT>AGG p.S398R NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 398 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) TTAGCCAAAGTTGATTCATGA 0.403000 FLJ43860 389690 broad.mit.edu 37 8 142487565 142487565 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr8:142487565C>T uc003ywi.2 - 12 1464 c.1383G>A c.(1381-1383)GAG>GAA p.E461E FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 461 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) TGTCCTGGGGCTCCTTCTCCA 0.662000 KIAA2026 158358 broad.mit.edu 37 9 5924714 5924714 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:5924714T>G uc003zjq.3 - 7 2846 c.2630A>C c.(2629-2631)AAG>ACG p.K877T KIAA2026_uc010mht.2_Missense_Mutation_p.K52T NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 877 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GTCTATAGACTTACTGATTTC 0.373000 BNC2 54796 broad.mit.edu 37 9 16436121 16436121 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:16436121A>G uc003zml.2 - 6 2211 c.2071T>C c.(2071-2073)TTT>CTT p.F691L BNC2_uc011lmw.1_Missense_Mutation_p.F596L|BNC2_uc003zmm.2_Missense_Mutation_p.F649L|BNC2_uc003zmq.1_Missense_Mutation_p.F705L|BNC2_uc003zmr.1_Missense_Mutation_p.F728L|BNC2_uc003zmp.1_Missense_Mutation_p.F719L|BNC2_uc010mij.1_Missense_Mutation_p.F613L|BNC2_uc011lmv.1_Missense_Mutation_p.F517L|BNC2_uc003zmo.1_Missense_Mutation_p.F613L|BNC2_uc003zmj.2_Missense_Mutation_p.F456L|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.F456L|BNC2_uc003zmn.1_Missense_Mutation_p.F456L NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 691 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) TGCTTAGAAAAGTCCTTCACA 0.493000 CNTLN 54875 broad.mit.edu 37 9 17415802 17415802 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:17415802A>G uc003zmz.2 + 17 2836 c.2810A>G c.(2809-2811)AAG>AGG p.K937R CNTLN_uc003zmy.2_Missense_Mutation_p.K938R|CNTLN_uc010mio.2_Missense_Mutation_p.K617R NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 938 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) TTTCATGATAAGAATGCCAAA 0.284000 ANXA1 301 broad.mit.edu 37 9 75781105 75781105 + Missense_Mutation SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:75781105A>G uc004ajf.1 + 10 873 c.799A>G c.(799-801)ATC>GTC p.I267V ANXA1_uc004aje.1_Missense_Mutation_p.I267V|ANXA1_uc004ajg.1_Missense_Mutation_p.I267V NM_000700 NP_000691 P04083 ANXA1_HUMAN annexin I 267 Annexin 3. alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1) 2 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) CCTCACAGCTATCGGTATGTA 0.358000 RORB 6096 broad.mit.edu 37 9 77257530 77257530 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:77257530G>A uc004aji.2 + 4 518 c.469G>A c.(469-471)GTC>ATC p.V157I RORB_uc004ajh.2_Missense_Mutation_p.V146I NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 157 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 CAACGGGCACGTCATTGACCT 0.542000 ZNF883 169834 broad.mit.edu 37 9 115759835 115759835 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:115759835T>C uc011lwy.1 - 5 1944 c.705A>G c.(703-705)AAA>AAG p.K235K NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACTCATAGGGTTTTTCTCCAG 0.428000 TLR4 7099 broad.mit.edu 37 9 120475865 120475865 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:120475865T>G uc004bjz.2 + 3 1750 c.1459T>G c.(1459-1461)TTC>GTC p.F487V TLR4_uc004bka.2_Missense_Mutation_p.F447V|TLR4_uc004bkb.2_Missense_Mutation_p.F287V NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 487 LRR 15.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 CCAGGAAAACTTCCTTCCAGA 0.448000 FUT7 2529 broad.mit.edu 37 9 139925609 139925609 + Silent SNP C C T TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr9:139925609C>T uc004ckq.2 - 2 1431 c.582G>A c.(580-582)GCG>GCA p.A194A ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron NM_004479 NP_004470 Q11130 FUT7_HUMAN fucosyltransferase 7 194 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity 0 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) GCAGATGAGGCGCCAGCTGCC 0.687000 ZNF674 641339 broad.mit.edu 37 X 46359574 46359574 + Silent SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:46359574G>A uc004dgr.2 - 6 1677 c.1450C>T c.(1450-1452)CTG>TTG p.L484L ZNF674_uc011mlg.1_Silent_p.L478L NM_001039891 NP_001034980 Q2M3X9 ZN674_HUMAN zinc finger family member 674 isoform 1 484 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2) 2 TGTTTAATCAGTGGTGACTTC 0.413000 FAM123B 139285 broad.mit.edu 37 X 63410103 63410103 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:63410103G>A uc004dvo.2 - 2 3337 c.3064C>T c.(3064-3066)CGT>TGT p.R1022C NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 1022 Pro-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 TGTGAGGGACGAGCTAGTTGA 0.567000 FAM46D 169966 broad.mit.edu 37 X 79698310 79698310 + Missense_Mutation SNP T T A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:79698310T>A uc004edl.1 + 5 606 c.272T>A c.(271-273)CTT>CAT p.L91H FAM46D_uc004edm.1_Missense_Mutation_p.L91H NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 91 lung(2) 2 GGTGTTGAGCTTCCAGGTAAC 0.393000 PCDH11X 27328 broad.mit.edu 37 X 91131988 91131988 + Missense_Mutation SNP A A C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:91131988A>C uc004efk.1 + 2 1594 c.749A>C c.(748-750)AAG>ACG p.K250T PCDH11X_uc004efl.1_Missense_Mutation_p.K250T|PCDH11X_uc004efo.1_Missense_Mutation_p.K250T|PCDH11X_uc010nmv.1_Missense_Mutation_p.K250T|PCDH11X_uc004efm.1_Missense_Mutation_p.K250T|PCDH11X_uc004efn.1_Missense_Mutation_p.K250T|PCDH11X_uc004efh.1_Missense_Mutation_p.K250T|PCDH11X_uc004efj.1_Missense_Mutation_p.K250T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 250 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CCAGTCTTTAAGGAGACAGAG 0.428000 COL4A6 1288 broad.mit.edu 37 X 107430498 107430498 + Silent SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:107430498T>C uc004enw.3 - 23 1885 c.1782A>G c.(1780-1782)GGA>GGG p.G594G COL4A6_uc004env.3_Silent_p.G593G|COL4A6_uc011msn.1_Silent_p.G593G|COL4A6_uc010npk.2_Silent_p.G593G NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 594 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 GGAAGCCCTGTCCACCATCAC 0.488000 Alport_syndrome_with_Diffuse_Leiomyomatosis IRS4 8471 broad.mit.edu 37 X 107975834 107975834 + Silent SNP A A G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:107975834A>G uc004eoc.2 - 1 3774 c.3741T>C c.(3739-3741)GAT>GAC p.D1247D NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 1247 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CGAACTGATTATCACGTCTGG 0.473000 ODZ1 10178 broad.mit.edu 37 X 123615810 123615810 + Missense_Mutation SNP T T G TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:123615810T>G uc004euj.2 - 21 3764 c.3700A>C c.(3700-3702)AGT>CGT p.S1234R ODZ1_uc011muj.1_Missense_Mutation_p.S1240R|ODZ1_uc010nqy.2_Missense_Mutation_p.S1241R NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1234 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TGAGCAGGACTTGTGCTAAGG 0.393000 MAGEA10 4109 broad.mit.edu 37 X 151303021 151303021 + Missense_Mutation SNP T T C TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:151303021T>C uc004ffk.2 - 5 1480 c.1072A>G c.(1072-1074)AGT>GGT p.S358G MAGEA10_uc004ffl.2_Missense_Mutation_p.S358G NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 358 0 Acute lymphoblastic leukemia(192;6.56e-05) GCGCTAGAACTTGCACTGGCC 0.403000 LAGE3 8270 broad.mit.edu 37 X 153706704 153706704 + Missense_Mutation SNP G G A TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chrX:153706704G>A uc004fln.1 - 2 577 c.235C>T c.(235-237)CAT>TAT p.H79Y NM_006014 NP_006005 Q14657 LAGE3_HUMAN L antigen family, member 3 79 protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGGACCCATGGGCGATTTCC 0.587000 KCNH8 131096 broad.mit.edu 37 3 19432097 19432106 + Frame_Shift_Del DEL TTTTGATCTT TTTTGATCTT - rs145629276 TCGA-BR-6453-01A-11D-1800-08 TCGA-BR-6453-11A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx b656f146-54b5-4c34-aa07-b91551223217 e317bae9-ecab-466c-958c-64901ebfbb90 g.chr3:19432096_19432105CTTTTGATCTT>C uc003cbk.1 + 5 1130_1139 c.935_944CTTTTGATCTT>C c.(934-945)ccttttgatcttfs p.P312fs KCNH8_uc011awe.1_Frame_Shift_Del_p.P312fs|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 312 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 GCTGCCCTGCCTTTTGATCTTCTGTATGCT 0.414