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 AGRN 375790 broad.mit.edu 37 1 980791 980791 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:980791C>T uc001ack.1 + 14 2474 c.2424C>T c.(2422-2424)GCC>GCT p.A808A NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 808 Laminin EGF-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GTGACCCAGCCACAGGCCAGT 0.667 HSPG2 3339 broad.mit.edu 37 1 22211066 22211066 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:22211066G>A uc001bfj.2 - 13 1649 c.1609C>T c.(1609-1611)CGG>TGG p.R537W HSPG2_uc009vqd.2_Missense_Mutation_p.R538W NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 537 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) ATCTGGTCCCGGAAGCGGCGG 0.667 OSCP1 127700 broad.mit.edu 37 1 36898072 36898072 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:36898072G>A uc001cap.2 - 4 498 c.416C>T c.(415-417)TCC>TTC p.S139F OSCP1_uc001caq.2_Missense_Mutation_p.S129F|OSCP1_uc001car.2_Missense_Mutation_p.S129F NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 139 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 GATGGTTGGGGAGTCTCGGAT 0.502 PODN 127435 broad.mit.edu 37 1 53535676 53535676 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:53535676C>T uc001cuv.2 + 2 300 c.293C>T c.(292-294)CCG>CTG p.P98L PODN_uc001cuw.2_Missense_Mutation_p.P79L|PODN_uc010onr.1_Missense_Mutation_p.P79L|PODN_uc010ons.1_Missense_Mutation_p.P98L NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 50 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding ovary(1)|pancreas(1) 2 GAGGAGGAGCCGGTGCTGGTA 0.672 SGIP1 84251 broad.mit.edu 37 1 67195054 67195054 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:67195054A>C uc001dcr.2 + 20 2067 c.1850A>C c.(1849-1851)AAT>ACT p.N617T SGIP1_uc010opd.1_Missense_Mutation_p.N217T|SGIP1_uc001dcs.2_Missense_Mutation_p.N217T|SGIP1_uc001dct.2_Missense_Mutation_p.N219T|SGIP1_uc009wat.2_Missense_Mutation_p.N411T|SGIP1_uc001dcu.2_Missense_Mutation_p.N122T NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 617 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 CGGGTGATAAATTTCAGCAGG 0.438 LPHN2 23266 broad.mit.edu 37 1 82408687 82408687 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:82408687G>A uc001dit.3 + 6 613 c.432G>A c.(430-432)GTG>GTA p.V144V LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.V144V|LPHN2_uc001div.2_Silent_p.V144V|LPHN2_uc009wcd.2_Silent_p.V144V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 144 Extracellular (Potential).|Olfactomedin-like. 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) AAGCAATTGTGGACTCACCAT 0.408 TTLL7 79739 broad.mit.edu 37 1 84373332 84373332 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:84373332C>T uc001djc.2 - 16 2195 c.1799G>A c.(1798-1800)CGT>CAT p.R600H TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 600 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) GCTGACTGAACGTCTTATGGA 0.433 PRMT6 55170 broad.mit.edu 37 1 107599821 107599821 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:107599821C>A uc010ous.1 + 1 555 c.484C>A c.(484-486)CTG>ATG p.L162M NM_018137 NP_060607 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 162 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity 0 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) CTACGGACTCCTGCACGAGTC 0.652 SV2A 9900 broad.mit.edu 37 1 149885086 149885086 + Missense_Mutation SNP G G A rs144624887 TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:149885086G>A uc001etg.2 - 2 798 c.307C>T c.(307-309)CGG>TGG p.R103W SV2A_uc001eth.2_Missense_Mutation_p.R103W NM_014849 NP_055664 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2 103 Cytoplasmic (Potential). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(6)|pancreas(1) 7 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) GACTCTGCCCGGGGAATGCCC 0.632 HRNR 388697 broad.mit.edu 37 1 152193722 152193722 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:152193722C>T uc001ezt.1 - 3 459 c.383G>A c.(382-384)AGT>AAT p.S128N NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 128 1. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTGAATGACTAAAAGAGGA 0.428 SMG5 23381 broad.mit.edu 37 1 156236063 156236063 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:156236063C>T uc001foc.3 - 12 1513 c.1364G>A c.(1363-1365)CGC>CAC p.R455H SMG5_uc009wrv.2_5'UTR NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 455 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) ACAGGAGAGGCGAGAGAACTT 0.582 OR10J3 441911 broad.mit.edu 37 1 159283850 159283850 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:159283850G>T uc010piu.1 - 1 600 c.600C>A c.(598-600)AAC>AAA p.N200K NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) TGACAACAAAGTTGATTATCT 0.473 DUSP27 92235 broad.mit.edu 37 1 167088640 167088640 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:167088640G>T uc001geb.1 + 4 592 c.592G>T c.(592-594)GAC>TAC p.D198Y NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 198 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 TCCTGAGGTGGACATTTCCCA 0.572 KIFAP3 22920 broad.mit.edu 37 1 170007467 170007467 + Nonsense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:170007467G>A uc001ggv.2 - 5 752 c.481C>T c.(481-483)CGA>TGA p.R161* KIFAP3_uc010ply.1_Nonsense_Mutation_p.R83*|KIFAP3_uc001ggw.1_Nonsense_Mutation_p.R117* NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 161 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCAGGATTTCGAGCAAGCTGC 0.308 SLC9A11 284525 broad.mit.edu 37 1 173550993 173550993 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:173550993G>C uc001giz.2 - 7 1218 c.795C>G c.(793-795)TTC>TTG p.F265L SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 265 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TACCAATATAGAAAGTCATGT 0.318 FAM5C 339479 broad.mit.edu 37 1 190067604 190067604 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:190067604C>T uc001gse.1 - 8 2077 c.1845G>A c.(1843-1845)GGG>GGA p.G615G FAM5C_uc010pot.1_Silent_p.G513G NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 615 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TCCATTTGTTCCCCAGAGTTA 0.443 CHI3L1 1116 broad.mit.edu 37 1 203148899 203148899 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:203148899A>G uc001gzi.2 - 9 1172 c.1001T>C c.(1000-1002)GTC>GCC p.V334A FMOD_uc010pqi.1_Intron|CHI3L1_uc001gzk.1_Missense_Mutation_p.V70A|CHI3L1_uc001gzj.2_Missense_Mutation_p.V273A|CHI3L1_uc001gzl.3_5'Flank NM_001276 NP_001267 P36222 CH3L1_HUMAN chitinase 3-like 1 precursor 334 chitin catabolic process extracellular space|proteinaceous extracellular matrix cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding pancreas(1) 1 CTTGCTTTTGACGCTTTCCTG 0.587 DISP1 84976 broad.mit.edu 37 1 223164006 223164006 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:223164006G>A uc001hnu.1 + 4 726 c.579G>A c.(577-579)TTG>TTA p.L193L NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 193 Helical; (Potential). diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TGGTGGTCTTGGGCATGTGCA 0.478 TP53BP2 7159 broad.mit.edu 37 1 223983962 223983962 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:223983962T>C uc010pvb.1 - 13 2571 c.2279A>G c.(2278-2280)TAT>TGT p.Y760C TP53BP2_uc001hod.2_Missense_Mutation_p.Y631C|TP53BP2_uc010puz.1_Translation_Start_Site|TP53BP2_uc010pva.1_Missense_Mutation_p.Y399C NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 754 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GGTCCTCTGATATAAAAGCTT 0.468 ACTN2 88 broad.mit.edu 37 1 236911005 236911005 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:236911005G>A uc001hyf.2 + 13 1649 c.1445G>A c.(1444-1446)CGG>CAG p.R482Q ACTN2_uc001hyg.2_Missense_Mutation_p.R274Q|ACTN2_uc009xgi.1_Missense_Mutation_p.R482Q|ACTN2_uc010pxu.1_Missense_Mutation_p.R171Q|ACTN2_uc001hyh.2_Missense_Mutation_p.R170Q NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 482 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) GTCAATGATCGGTGCCAGAAA 0.418 OR2M7 391196 broad.mit.edu 37 1 248487101 248487101 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:248487101A>G uc010pzk.1 - 1 770 c.770T>C c.(769-771)TTC>TCC p.F257S NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AATGCACATGAACAAACCTGC 0.468 CUBN 8029 broad.mit.edu 37 10 17026238 17026238 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr10:17026238T>C uc001ioo.2 - 30 4443 c.4391A>G c.(4390-4392)CAA>CGA p.Q1464R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1464 CUB 9. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTACACAGTTGGGCTATTCT 0.448 ANKRD30A 91074 broad.mit.edu 37 10 37505290 37505290 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr10:37505290A>G uc001iza.1 + 32 2982 c.2883A>G c.(2881-2883)AAA>AAG p.K961K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1017 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 AGAACCAAAAAGTTAAATGGG 0.308 C10orf71 118461 broad.mit.edu 37 10 50532585 50532585 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr10:50532585C>T uc010qgp.1 + 3 2334 c.1995C>T c.(1993-1995)ACC>ACT p.T665T NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 665 0 AAATGAAGACCCACCAGCTAG 0.532 SMC3 9126 broad.mit.edu 37 10 112328746 112328746 + Silent SNP C C G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr10:112328746C>G uc001kze.2 + 2 192 c.66C>G c.(64-66)CCC>CCG p.P22P NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 22 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TTGTAGATCCCTTCAGTTCAA 0.318 ADRB1 153 broad.mit.edu 37 10 115804636 115804636 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr10:115804636C>T uc001lba.2 + 1 831 c.745C>T c.(745-747)CGC>TGC p.R249C NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 249 Cytoplasmic (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GCGGGTGTTCCGCGAGGCCCA 0.547 ABLIM1 3983 broad.mit.edu 37 10 116225532 116225532 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr10:116225532T>C uc010qsg.1 - 12 1465 c.1366A>G c.(1366-1368)ATC>GTC p.I456V ABLIM1_uc010qsh.1_Missense_Mutation_p.I424V|ABLIM1_uc010qsi.1_Missense_Mutation_p.I396V|ABLIM1_uc010qsk.1_Missense_Mutation_p.I380V|ABLIM1_uc009xyp.2_Missense_Mutation_p.I418V|ABLIM1_uc010qsf.1_Missense_Mutation_p.I168V|ABLIM1_uc009xyn.2_Missense_Mutation_p.I107V|ABLIM1_uc010qsj.1_Missense_Mutation_p.I133V|ABLIM1_uc009xyo.2_Missense_Mutation_p.I304V NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 456 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GGGGAGTTGATGGAGCCCTGG 0.552 KCNK18 338567 broad.mit.edu 37 10 118957007 118957007 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr10:118957007T>G uc010qsr.1 + 1 8 c.8T>G c.(7-9)GTC>GGC p.V3G NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 3 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) ACGATGGAGGTCTCGGGGCAC 0.637 OR51F2 119694 broad.mit.edu 37 11 4842656 4842656 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:4842656C>T uc010qyn.1 + 1 41 c.41C>T c.(40-42)TCG>TTG p.S14L NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S14S(1) ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TTCCCTATGTCGGTCCTCAAT 0.438 TMEM86A 144110 broad.mit.edu 37 11 18722659 18722659 + Silent SNP C C T rs145862476 TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:18722659C>T uc001moz.1 + 2 284 c.201C>T c.(199-201)AGC>AGT p.S67S NM_153347 NP_699178 Q8N2M4 TM86A_HUMAN transmembrane protein 86A 67 integral to membrane ovary(1) 1 CCCACCCCAGCGCCACCCGCA 0.597 ARFGAP2 84364 broad.mit.edu 37 11 47198097 47198097 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:47198097C>T uc001ndt.2 - 2 176 c.161G>A c.(160-162)CGC>CAC p.R54H ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.R54H|ARFGAP2_uc001ndu.2_Missense_Mutation_p.R54H|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.R54H|ARFGAP2_uc001ndv.1_Missense_Mutation_p.R54H NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 54 Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 GCCCAGGGAGCGGTGCACCCC 0.632 OR8H2 390151 broad.mit.edu 37 11 55873412 55873412 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:55873412A>C uc010riy.1 + 1 894 c.894A>C c.(892-894)AAA>AAC p.K298N NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) AAGAGGTGAAAAATGCTGTCA 0.373 HNSCC(53;0.14) SLC22A25 387601 broad.mit.edu 37 11 62933530 62933530 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:62933530A>G uc001nwr.1 - 7 1271 c.1271T>C c.(1270-1272)ATA>ACA p.I424T SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_3'UTR NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 424 Helical; Name=9; (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 AGGCACAAATATGATGGCCAG 0.488 PDGFD 80310 broad.mit.edu 37 11 103870925 103870925 + Silent SNP G G A rs148454316 byFrequency TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:103870925G>A uc001phq.2 - 2 555 c.183C>T c.(181-183)AAC>AAT p.N61N PDGFD_uc001php.2_Silent_p.N55N NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 61 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) GCACGTAGCCGTTTCCTTTCA 0.488 NLRX1 79671 broad.mit.edu 37 11 119052817 119052817 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:119052817C>T uc001pvu.2 + 9 2584 c.2369C>T c.(2368-2370)CCG>CTG p.P790L NLRX1_uc001pvv.2_Missense_Mutation_p.P790L|NLRX1_uc001pvw.2_Missense_Mutation_p.P790L|NLRX1_uc001pvx.2_Missense_Mutation_p.P790L NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 790 Required for the repression of MAVS- induced interferon signaling.|LRR 4. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TCCAACAACCCGCTGACGGCG 0.622 ARHGEF12 23365 broad.mit.edu 37 11 120335951 120335951 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr11:120335951C>T uc001pxl.1 + 28 2626 c.2619C>T c.(2617-2619)AGC>AGT p.S873S ARHGEF12_uc009zat.2_Silent_p.S854S|ARHGEF12_uc010rzn.1_Silent_p.S770S|ARHGEF12_uc009zau.1_Silent_p.S770S NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 873 DH. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CACAGTTCAGCGGACCAGGAG 0.423 T MLL AML TULP3 7289 broad.mit.edu 37 12 3040238 3040238 + Missense_Mutation SNP A A T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr12:3040238A>T uc010seh.1 + 6 609 c.528A>T c.(526-528)CAA>CAT p.Q176H TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.Q176H|TULP3_uc010sei.1_Missense_Mutation_p.Q33H NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 176 TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1). G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CTGCCGCCCAACCAGCTGATA 0.493 VWF 7450 broad.mit.edu 37 12 6161886 6161886 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr12:6161886C>T uc001qnn.1 - 16 2259 c.2009G>A c.(2008-2010)CGC>CAC p.R670H VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 670 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGAGAGAGAGCGGCAGGTCAG 0.617 ADAMTS20 80070 broad.mit.edu 37 12 43822058 43822058 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr12:43822058C>T uc010skx.1 - 26 3931 c.3931G>A c.(3931-3933)GGA>AGA p.G1311R ADAMTS20_uc001rno.1_Missense_Mutation_p.G429R|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G465R NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1311 TSP type-1 9. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CCCCATGGTCCGGTTCTCCAC 0.353 IKZF4 64375 broad.mit.edu 37 12 56428541 56428541 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr12:56428541T>C uc001sjb.1 + 9 1343 c.1184T>C c.(1183-1185)CTC>CCC p.L395P IKZF4_uc010sqa.1_Missense_Mutation_p.L348P|IKZF4_uc001sjc.1_Missense_Mutation_p.L395P|IKZF4_uc001sjd.1_Missense_Mutation_p.L293P|IKZF4_uc009zoi.1_Missense_Mutation_p.L350P|IKZF4_uc001sje.1_Missense_Mutation_p.L354P NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 395 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) ATCTCAGAACTCACGCCTGTC 0.602 AGAP2 116986 broad.mit.edu 37 12 58125727 58125727 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr12:58125727G>A uc001spq.2 - 8 1818 c.1818C>T c.(1816-1818)AGC>AGT p.S606S AGAP2_uc001spp.2_Silent_p.S606S|AGAP2_uc001spr.2_Silent_p.S270S NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 606 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 AAGAGTAGTCGCTAGTGTGGC 0.597 GRIP1 23426 broad.mit.edu 37 12 66742840 66742840 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr12:66742840C>T uc001stk.2 - 24 3431 c.3190G>A c.(3190-3192)GGT>AGT p.G1064S GRIP1_uc001stj.2_Missense_Mutation_p.G831S NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 1116 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AAATTACCACCGTGGCTAGGC 0.413 XPO4 64328 broad.mit.edu 37 13 21357924 21357924 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr13:21357924C>A uc001unq.3 - 23 3429 c.3393G>T c.(3391-3393)ATG>ATT p.M1131I NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 1131 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) TTAAGAAGGCCATCTTCTGCT 0.413 OLFM4 10562 broad.mit.edu 37 13 53624159 53624159 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr13:53624159C>T uc001vhl.2 + 5 786 c.786C>T c.(784-786)CTC>CTT p.L262L OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 262 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) TGGTTCAGCTCAACTGGAGAG 0.443 F7 2155 broad.mit.edu 37 13 113761182 113761182 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr13:113761182G>A uc001vsv.2 + 2 139 c.88G>A c.(88-90)GGA>AGA p.G30R F7_uc010agp.1_Intron|F7_uc001vsw.2_Intron|F7_uc010tjt.1_Intron NM_000131 NP_000122 P08709 FA7_HUMAN coagulation factor VII isoform a precursor 30 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) GGCCTCAGGAGGAGAAACACG 0.657 CYP46A1 10858 broad.mit.edu 37 14 100165870 100165870 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr14:100165870G>C uc001ygo.2 + 4 350 c.350G>C c.(349-351)GGT>GCT p.G117A CYP46A1_uc001ygn.1_Missense_Mutation_p.G79A NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 117 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) ACTGTGTTTGGTGAGAGGTAA 0.522 YY1 7528 broad.mit.edu 37 14 100743827 100743827 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr14:100743827G>A uc001ygy.1 + 5 1615 c.1135G>A c.(1135-1137)GGA>AGA p.G379R uc001ygz.1_5'Flank NM_003403 NP_003394 P25490 TYY1_HUMAN YY1 transcription factor 379 Involved in masking transactivation domain. cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding 0 Melanoma(154;0.152) AATCCATACCGGAGACAGGCC 0.468 OR4M2 390538 broad.mit.edu 37 15 22369460 22369460 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr15:22369460A>G uc010tzu.1 + 1 885 c.885A>G c.(883-885)GAA>GAG p.E295E LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GAAACAAGGAAGTAAAGGCAG 0.353 NDN 4692 broad.mit.edu 37 15 23931667 23931667 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr15:23931667T>G uc001ywk.2 - 1 784 c.698A>C c.(697-699)AAG>ACG p.K233T NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 233 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) AGTGATGAGCTTCCGCACGTC 0.632 Prader-Willi_syndrome DUOX2 50506 broad.mit.edu 37 15 45386811 45386811 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr15:45386811G>A uc010bea.2 - 33 4677 c.4474C>T c.(4474-4476)CGT>TGT p.R1492C DUOX2_uc001zun.2_Missense_Mutation_p.R1492C NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1492 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AAGGGGGGACGGCCAAAGTGG 0.637 DTWD1 56986 broad.mit.edu 37 15 49924413 49924413 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr15:49924413G>T uc001zxq.2 + 4 599 c.322G>T c.(322-324)GCT>TCT p.A108S DTWD1_uc001zxs.2_Missense_Mutation_p.A108S|DTWD1_uc001zxr.2_Missense_Mutation_p.A21S|DTWD1_uc001zxo.2_Missense_Mutation_p.A108S NM_020234 NP_064619 Q8N5C7 DTWD1_HUMAN DTW domain containing 1 108 0 all_lung(180;0.0384) all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05) CAAAAGTACTGCTATACATGC 0.219 SEMA7A 8482 broad.mit.edu 37 15 74709712 74709712 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr15:74709712C>T uc002axv.2 - 6 665 c.625G>A c.(625-627)GAG>AAG p.E209K SEMA7A_uc010ulk.1_Missense_Mutation_p.E44K|SEMA7A_uc010ull.1_Missense_Mutation_p.E195K NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 209 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 AGCTCACTCTCGCCCCGGATG 0.592 IGFALS 3483 broad.mit.edu 37 16 1841399 1841399 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr16:1841399A>G uc002cmy.2 - 2 1101 c.1020T>C c.(1018-1020)CTT>CTC p.L340L IGFALS_uc010uvn.1_Silent_p.L378L|IGFALS_uc010uvo.1_5'UTR NM_004970 NP_004961 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid 340 LRR 12. cell adhesion|signal transduction soluble fraction insulin-like growth factor binding 0 TGAGCACCTCAAGCTGCCCCA 0.642 PKMYT1 9088 broad.mit.edu 37 16 3025809 3025809 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr16:3025809C>T uc002csn.2 - 4 826 c.383G>A c.(382-384)CGC>CAC p.R128H PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.R128H|PKMYT1_uc002cso.2_Missense_Mutation_p.R59H|PKMYT1_uc002csp.2_Missense_Mutation_p.R119H|PKMYT1_uc002csq.2_Missense_Mutation_p.R119H|PKMYT1_uc010bsy.1_Missense_Mutation_p.R119H NM_004203 NP_004194 Q99640 PMYT1_HUMAN protein kinase Myt1 isoform 1 128 Protein kinase. G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(1) 1 CTCCTTGGAGCGCACCTGGAA 0.627 ABCC1 4363 broad.mit.edu 37 16 16225674 16225674 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr16:16225674C>T uc010bvi.2 + 27 4023 c.3848C>T c.(3847-3849)CCG>CTG p.P1283L ABCC1_uc010bvj.2_Missense_Mutation_p.P1224L|ABCC1_uc010bvk.2_Missense_Mutation_p.P1227L|ABCC1_uc010bvl.2_Missense_Mutation_p.P1283L|ABCC1_uc010bvm.2_Missense_Mutation_p.P1168L|ABCC1_uc002del.3_Missense_Mutation_p.P1177L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1283 Cytoplasmic. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GAGACAGCTCCGCCCAGCAGC 0.587 SBK1 388228 broad.mit.edu 37 16 28330503 28330503 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr16:28330503C>T uc002dpd.2 + 3 1203 c.414C>T c.(412-414)GAC>GAT p.D138D NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN SH3-binding kinase 1 138 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|kidney(1) 2 ACCTGTTTGACATCATCCCTC 0.547 SETD1A 9739 broad.mit.edu 37 16 30976945 30976945 + Silent SNP C C T rs146323096 TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr16:30976945C>T uc002ead.1 + 8 2429 c.1743C>T c.(1741-1743)GAC>GAT p.D581D NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 581 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CTTCTGGAGACGACATGGAGA 0.562 TMCO7 79613 broad.mit.edu 37 16 68961816 68961816 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr16:68961816A>G uc002ewi.3 + 13 2485 c.2473A>G c.(2473-2475)ACT>GCT p.T825A NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 825 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TGAGCCCAGCACTACTACAAG 0.507 TP53 7157 broad.mit.edu 37 17 7577129 7577129 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:7577129A>G uc002gim.2 - 8 1003 c.809T>C c.(808-810)TTT>TCT p.F270S TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.F270S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.F138S|TP53_uc010cng.1_Missense_Mutation_p.F138S|TP53_uc002gii.1_Missense_Mutation_p.F138S|TP53_uc010cnh.1_Missense_Mutation_p.F270S|TP53_uc010cni.1_Missense_Mutation_p.F270S|TP53_uc002gij.2_Missense_Mutation_p.F270S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 270 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). F -> L (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).|F -> C (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.F270L(22)|p.F270C(15)|p.F270V(8)|p.0?(7)|p.F270S(7)|p.F270Y(5)|p.F270I(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.S269_F270insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACGCACCTCAAAGCTGTTCCG 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYO15A 51168 broad.mit.edu 37 17 18065937 18065937 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:18065937T>G uc010vxh.1 + 57 9894 c.9556T>G c.(9556-9558)TTG>GTG p.L3186V MYO15A_uc010vxi.1_Missense_Mutation_p.L450V|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Missense_Mutation_p.L175V|MYO15A_uc002gsl.2_Missense_Mutation_p.L193V|MYO15A_uc010vxm.1_Missense_Mutation_p.L108V|MYO15A_uc002gsm.1_Missense_Mutation_p.L108V|MYO15A_uc010cpv.2_RNA NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3186 Tail.|MyTH4 2. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCAGAAAACCTTGCGCTTCGG 0.582 NLK 51701 broad.mit.edu 37 17 26495496 26495496 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:26495496G>A uc010crj.2 + 6 1072 c.860G>A c.(859-861)AGA>AAA p.R287K NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 287 Protein kinase. intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) GGATTGGCCAGAGTGGAAGAA 0.368 PIGS 94005 broad.mit.edu 37 17 26888484 26888484 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:26888484T>G uc002hbo.2 - 6 1005 c.632A>C c.(631-633)GAC>GCC p.D211A PIGS_uc002hbn.2_Missense_Mutation_p.D203A|PIGS_uc010wap.1_Missense_Mutation_p.D150A NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 211 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) GCTCCACTTGTCCTCTGGAAG 0.577 PNMT 5409 broad.mit.edu 37 17 37826527 37826527 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:37826527G>A uc002hsi.1 + 3 956 c.734G>A c.(733-735)CGT>CAT p.R245H NM_002686 NP_002677 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 245 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity ovary(1) 1 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCCCTGGTGCGTAGTGGCTAC 0.637 KRT13 3860 broad.mit.edu 37 17 39661551 39661551 + Silent SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:39661551A>G uc002hwu.1 - 1 315 c.252T>C c.(250-252)GGT>GGC p.G84G KRT13_uc002hwv.1_Silent_p.G84G|KRT13_uc002hww.2_Intron|KRT13_uc010wfr.1_Intron|KRT13_uc010cxo.2_Silent_p.G84G|KRT13_uc002hwx.1_Silent_p.G72G NM_153490 NP_705694 P13646 K1C13_HUMAN keratin 13 isoform a 84 Gly-rich.|Head. epidermis development intermediate filament structural molecule activity ovary(2)|skin(2)|pancreas(1) 5 Breast(137;0.000286) caccagcaaaacccccaccaa 0.164 MPP3 4356 broad.mit.edu 37 17 41886367 41886367 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:41886367G>A uc002iei.3 - 19 1704 c.1538C>T c.(1537-1539)ACG>ATG p.T513M MPP3_uc002ieh.2_Missense_Mutation_p.T538M|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 513 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CATAGGTGGCGTTTTTCTTTT 0.408 ENPP7 339221 broad.mit.edu 37 17 77708918 77708918 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:77708918A>G uc002jxa.2 + 3 496 c.476A>G c.(475-477)AAA>AGA p.K159R NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 159 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGGAGCCGGAAAGAAGGCATC 0.587 DLGAP1 9229 broad.mit.edu 37 18 3534395 3534395 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr18:3534395G>A uc002kmf.2 - 7 2343 c.2276C>T c.(2275-2277)ACG>ATG p.T759M DLGAP1_uc010wyz.1_Missense_Mutation_p.T759M|DLGAP1_uc002kme.1_Missense_Mutation_p.T457M|DLGAP1_uc010dkn.2_Missense_Mutation_p.T467M|DLGAP1_uc010wyw.1_Missense_Mutation_p.T465M|DLGAP1_uc010wyx.1_Missense_Mutation_p.T481M|DLGAP1_uc010wyy.1_Missense_Mutation_p.T443M|DLGAP1_uc002kmg.2_Missense_Mutation_p.T457M NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 759 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) GTCAAAATCCGTGTCAAAGTC 0.567 DCC 1630 broad.mit.edu 37 18 51013269 51013269 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr18:51013269G>A uc002lfe.1 + 26 4426 c.3839G>A c.(3838-3840)CGG>CAG p.R1280Q DCC_uc010dpf.1_Missense_Mutation_p.R915Q NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1280 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTCACTCTCCGGCCTGTGCCA 0.532 RDH8 50700 broad.mit.edu 37 19 10132337 10132337 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr19:10132337G>A uc002mmr.2 + 6 1097 c.848G>A c.(847-849)CGC>CAC p.R283H NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 283 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) ACGACCCACCGCCTCCTCTTC 0.632 EPHX3 79852 broad.mit.edu 37 19 15341777 15341777 + Nonsense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr19:15341777G>T uc002nap.2 - 4 821 c.612C>A c.(610-612)TAC>TAA p.Y204* EPHX3_uc002naq.2_Nonsense_Mutation_p.Y204* NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 204 extracellular region hydrolase activity 0 ACACACCTTGGTACACCGACA 0.552 CPAMD8 27151 broad.mit.edu 37 19 17014389 17014389 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr19:17014389G>A uc002nfb.2 - 34 4625 c.4593C>T c.(4591-4593)GAC>GAT p.D1531D CPAMD8_uc002nfd.1_Translation_Start_Site NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1484 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GGCAGCAGCCGTCCCCCTTGG 0.617 CATSPERG 57828 broad.mit.edu 37 19 38851464 38851464 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr19:38851464T>C uc002oih.3 + 16 1948 c.1861T>C c.(1861-1863)TAT>CAT p.Y621H CATSPERG_uc002oig.3_Missense_Mutation_p.Y581H|CATSPERG_uc002oif.3_Missense_Mutation_p.Y261H|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 621 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 CACCAGCCACTATGACTTGGA 0.448 ARHGEF1 9138 broad.mit.edu 37 19 42397364 42397364 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr19:42397364G>A uc002orx.2 + 8 743 c.634G>A c.(634-636)GAA>AAA p.E212K ARHGEF1_uc002orw.1_Missense_Mutation_p.E212K|ARHGEF1_uc002ory.2_Missense_Mutation_p.E179K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E50K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E227K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E194K|ARHGEF1_uc002osc.2_5'Flank NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 212 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CTCTACCGACGAAGAAAAGAG 0.279 MYBPC2 4606 broad.mit.edu 37 19 50958492 50958492 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr19:50958492C>T uc002psf.2 + 19 2193 c.2142C>T c.(2140-2142)TTC>TTT p.F714F NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 714 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGCGTGTCTTCGCCGTCAATG 0.493 NLRP8 126205 broad.mit.edu 37 19 56490859 56490859 + Silent SNP G G A rs111647316 TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr19:56490859G>A uc002qmh.2 + 9 3047 c.2976G>A c.(2974-2976)GCG>GCA p.A992A NLRP8_uc010etg.2_Silent_p.A973A NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 992 LRR 6. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GCAAGAATGCGATTGGAGTCT 0.498 SNTG2 54221 broad.mit.edu 37 2 1094065 1094065 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:1094065C>T uc002qwq.2 + 4 422 c.294C>T c.(292-294)GTC>GTT p.V98V SNTG2_uc002qwp.2_RNA|SNTG2_uc010ewi.2_Intron NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 98 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) ACGTCCCTGTCGTCATATCAA 0.383 GREB1 9687 broad.mit.edu 37 2 11755365 11755365 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:11755365G>T uc002rbk.1 + 20 3571 c.3271G>T c.(3271-3273)GCT>TCT p.A1091S GREB1_uc002rbp.1_Missense_Mutation_p.A89S NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1091 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGAGAGTGATGCTGAGAAGCT 0.582 DDX1 1653 broad.mit.edu 37 2 15769793 15769793 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:15769793G>T uc002rce.2 + 24 2231 c.1943G>T c.(1942-1944)GGC>GTC p.G648V NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 648 Helicase C-terminal.|Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) GAAGATGGAGGCTGTACCATA 0.348 FBXO11 80204 broad.mit.edu 37 2 48035360 48035360 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:48035360G>A uc010fbl.2 - 23 2543 c.2429C>T c.(2428-2430)ACA>ATA p.T810I FBXO11_uc002rwe.2_Missense_Mutation_p.T810I|FBXO11_uc010fbk.2_Missense_Mutation_p.T318I NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 894 UBR-type. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATTAGACAGTGTTCCAGCACC 0.393 IL1R2 7850 broad.mit.edu 37 2 102626041 102626041 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:102626041C>T uc002tbm.2 + 3 314 c.85C>T c.(85-87)CGG>TGG p.R29W IL1R2_uc002tbn.2_Missense_Mutation_p.R29W|IL1R2_uc002tbo.1_Missense_Mutation_p.R29W NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 29 Extracellular (Potential).|Ig-like C2-type 1. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) CAGAAGCTGCCGGTTTCGTGG 0.597 ZEB2 9839 broad.mit.edu 37 2 145162441 145162441 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:145162441C>T uc002tvu.2 - 5 1034 c.554G>A c.(553-555)CGC>CAC p.R185H ZEB2_uc002tvv.2_Missense_Mutation_p.R179H|ZEB2_uc010zbm.1_Missense_Mutation_p.R156H|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.R214H NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 185 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) CGTGCCAAGGCGAGACAGCTC 0.507 SCN1A 6323 broad.mit.edu 37 2 166854619 166854619 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:166854619A>G uc010zcz.1 - 23 4390 c.4372T>C c.(4372-4374)TTT>CTT p.F1458L SCN1A_uc002udo.3_Missense_Mutation_p.F1338L|SCN1A_uc010fpk.2_Missense_Mutation_p.F1310L NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1469 Helical; Name=S6 of repeat III; (By similarity).|III. 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) AAGGACCCAAAGATGATGAAA 0.338 G6PC2 57818 broad.mit.edu 37 2 169761040 169761040 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:169761040C>T uc002uem.2 + 3 446 c.354C>T c.(352-354)GGC>GGT p.G118G G6PC2_uc002uen.2_Silent_p.G118G|G6PC2_uc010fpv.2_Silent_p.G2G NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN islet-specific glucose-6-phosphatase-related 118 Helical; (Potential). gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity pancreas(1) 1 ATGCAATGGGCGCATCCTGTG 0.463 DNAH7 56171 broad.mit.edu 37 2 196852950 196852950 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:196852950T>G uc002utj.3 - 13 1458 c.1357A>C c.(1357-1359)AGT>CGT p.S453R NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 453 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TTAGACTTACTTTCCTAAACA 0.308 SPATS2L 26010 broad.mit.edu 37 2 201337696 201337696 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:201337696A>C uc002uvn.3 + 12 1554 c.1202A>C c.(1201-1203)AAA>ACA p.K401T SPATS2L_uc010fst.2_Missense_Mutation_p.K401T|SPATS2L_uc002uvo.3_Missense_Mutation_p.K341T|SPATS2L_uc002uvp.3_Missense_Mutation_p.K401T|SPATS2L_uc002uvq.3_Missense_Mutation_p.K332T|SPATS2L_uc002uvr.3_Missense_Mutation_p.K401T|SPATS2L_uc010zhc.1_Missense_Mutation_p.K431T NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 401 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 TCTGAAGGCAAAGCGGCAAAC 0.572 ADAM23 8745 broad.mit.edu 37 2 207431960 207431960 + Nonsense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:207431960C>T uc002vbq.2 + 15 1631 c.1408C>T c.(1408-1410)CGA>TGA p.R470* ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 470 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GTCCCATTCTCGAAAATTTTC 0.358 SPAG16 79582 broad.mit.edu 37 2 214215281 214215281 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:214215281C>A uc002veq.2 + 7 766 c.674C>A c.(673-675)CCG>CAG p.P225Q SPAG16_uc010fuz.1_Missense_Mutation_p.P76Q|SPAG16_uc002ver.2_Missense_Mutation_p.P171Q|SPAG16_uc010zjk.1_Missense_Mutation_p.P131Q|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.P194Q NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 225 Potential. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TCTTATGAACCGACTATAAGG 0.348 TRPM8 79054 broad.mit.edu 37 2 234869689 234869689 + Silent SNP C C T rs142882642 TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr2:234869689C>T uc002vvh.2 + 12 1672 c.1632C>T c.(1630-1632)GAC>GAT p.D544D TRPM8_uc010fyj.2_Silent_p.D232D NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 544 Cytoplasmic (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ATGGCCGGGACGAGATGGACA 0.488 CPXM1 56265 broad.mit.edu 37 20 2779456 2779456 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr20:2779456G>A uc002wgu.2 - 2 320 c.256C>T c.(256-258)CGC>TGC p.R86C CPXM1_uc010gas.2_Missense_Mutation_p.R86C NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 86 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 GGGGTGGGGCGAGTTAGAGTT 0.567 JAG1 182 broad.mit.edu 37 20 10633188 10633188 + Missense_Mutation SNP C C T rs148990028 byFrequency TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr20:10633188C>T uc002wnw.2 - 6 1330 c.814G>A c.(814-816)GTC>ATC p.V272I JAG1_uc010gcd.1_5'Flank NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 272 Extracellular (Potential).|EGF-like 2; atypical. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 ATGCCGTGGACGCATCCCGGG 0.587 Alagille_Syndrome SPTLC3 55304 broad.mit.edu 37 20 13140725 13140725 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr20:13140725A>C uc002wod.1 + 11 1780 c.1491A>C c.(1489-1491)GAA>GAC p.E497D NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 497 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) CCCTCGCAGAAGCTCGGGCTC 0.498 PLAGL2 5326 broad.mit.edu 37 20 30785006 30785006 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr20:30785006A>C uc002wxn.2 - 3 957 c.740T>G c.(739-741)CTC>CGC p.L247R NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 247 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTTGATCTTGAGCAGCTCCTG 0.577 CSE1L 1434 broad.mit.edu 37 20 47682762 47682762 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr20:47682762G>A uc002xty.2 + 4 396 c.262G>A c.(262-264)GAT>AAT p.D88N CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.D88N NM_001316 NP_001307 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like protein 88 Importin N-terminal. apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity large_intestine(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TTGTGAAGCCGATCGAGTGGC 0.418 MCM3AP 8888 broad.mit.edu 37 21 47695170 47695170 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr21:47695170T>G uc002zir.1 - 6 1964 c.1928A>C c.(1927-1929)GAG>GCG p.E643A NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 643 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CCTCTCCTTCTCAGGACACAT 0.542 ZNF74 7625 broad.mit.edu 37 22 20760724 20760724 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr22:20760724C>T uc010gsm.2 + 6 1613 c.1401C>T c.(1399-1401)AGC>AGT p.S467S ZNF74_uc002zsg.2_Silent_p.S396S|ZNF74_uc002zsh.2_Silent_p.S467S|ZNF74_uc002zsi.2_Silent_p.S396S|ZNF74_uc010gsn.2_Silent_p.S396S NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 467 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCATCCACAGCGGCGAGAAGC 0.652 SCARF2 91179 broad.mit.edu 37 22 20780319 20780319 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr22:20780319C>T uc002zsj.1 - 11 2064 c.1959G>A c.(1957-1959)TCG>TCA p.S653S SCARF2_uc002zsk.1_Silent_p.S648S NM_153334 NP_699165 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 isoform 1 648 Pro-rich.|Cytoplasmic (Potential). cell adhesion integral to membrane protein binding|receptor activity breast(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGCGCTCGGGCGATGGCGACA 0.627 SMTN 6525 broad.mit.edu 37 22 31486955 31486955 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr22:31486955C>A uc003ajl.1 + 10 1164 c.946C>A c.(946-948)CCC>ACC p.P316T SMTN_uc003ajk.1_Missense_Mutation_p.P316T|SMTN_uc003ajm.1_Missense_Mutation_p.P316T|SMTN_uc011ale.1_Missense_Mutation_p.P370T|SMTN_uc011alf.1_Missense_Mutation_p.P372T|SMTN_uc003ajn.1_Missense_Mutation_p.P308T|SMTN_uc011alg.1_5'UTR|SMTN_uc003ajo.1_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.1_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN smoothelin isoform c 316 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle large_intestine(2)|pancreas(1) 3 AGAGTCCACCCCCCTTGCCAG 0.582 ATP2B2 491 broad.mit.edu 37 3 10430051 10430051 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr3:10430051C>T uc003bvt.2 - 6 1256 c.817G>A c.(817-819)GTG>ATG p.V273M ATP2B2_uc003bvv.2_Missense_Mutation_p.V273M|ATP2B2_uc003bvw.2_Missense_Mutation_p.V273M|ATP2B2_uc010hdp.2_Missense_Mutation_p.V273M|ATP2B2_uc010hdo.2_Missense_Mutation_p.V9M NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 273 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 ACAGCAGTCACCAACATCCGT 0.517 TRANK1 9881 broad.mit.edu 37 3 36874650 36874650 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr3:36874650A>C uc003cgj.2 - 12 4944 c.4642T>G c.(4642-4644)TTT>GTT p.F1548V NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2098 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TCCAGGTCAAAAATTATTCTT 0.378 LSAMP 4045 broad.mit.edu 37 3 115805190 115805190 + Silent SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr3:115805190T>C uc003ebt.2 - 2 869 c.369A>G c.(367-369)CAA>CAG p.Q123Q LSAMP_uc011bis.1_Silent_p.Q123Q NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 123 cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) TCAAGTAAACTTGGGAGGTCT 0.438 MSL2 55167 broad.mit.edu 37 3 135870710 135870710 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr3:135870710A>G uc003eqx.1 - 2 1746 c.1013T>C c.(1012-1014)TTG>TCG p.L338S MSL2_uc011bmb.1_Missense_Mutation_p.L264S NM_018133 NP_060603 Q9HCI7 MSL2_HUMAN ring finger protein 184 isoform 1 338 histone H4-K16 acetylation MSL complex zinc ion binding central_nervous_system(1) 1 TTTTCTATTCAATTTTGCTAT 0.453 MECOM 2122 broad.mit.edu 37 3 168845679 168845679 + Silent SNP C C T rs150481592 TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr3:168845679C>T uc003ffi.3 - 4 488 c.219G>A c.(217-219)ACG>ACA p.T73T MECOM_uc010hwk.1_Silent_p.T96T|MECOM_uc003ffj.3_Silent_p.T137T|MECOM_uc011bpi.1_Silent_p.T73T|MECOM_uc003ffn.3_Silent_p.T73T|MECOM_uc003ffk.2_Silent_p.T73T|MECOM_uc003ffl.2_Silent_p.T233T|MECOM_uc011bpj.1_Silent_p.T261T|MECOM_uc011bpk.1_Silent_p.T63T|MECOM_uc010hwn.2_Silent_p.T261T|MECOM_uc003ffm.1_Silent_p.T137T NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 73 Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 ACTCCTGGATCGTGTGTATCT 0.388 CRMP1 1400 broad.mit.edu 37 4 5827283 5827283 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:5827283G>A uc003gip.2 - 14 1666 c.1565C>T c.(1564-1566)TCG>TTG p.S522L EVC_uc003gim.1_Intron|CRMP1_uc003gin.1_Missense_Mutation_p.S434L|CRMP1_uc003giq.2_Missense_Mutation_p.S522L|CRMP1_uc003gir.2_Missense_Mutation_p.S517L|CRMP1_uc003gis.2_Missense_Mutation_p.S636L NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 522 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) TTTAGAAGGCGAAGATTTGGC 0.532 JAKMIP1 152789 broad.mit.edu 37 4 6055827 6055827 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:6055827C>A uc003giu.3 - 13 2032 c.1756G>T c.(1756-1758)GAC>TAC p.D586Y JAKMIP1_uc010idb.1_Missense_Mutation_p.D586Y|JAKMIP1_uc010idc.1_Missense_Mutation_p.D401Y|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.D421Y|JAKMIP1_uc003giv.3_Missense_Mutation_p.D586Y|JAKMIP1_uc010ide.2_3'UTR NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 586 Mediates interaction with TYK2 and GABBR1.|Potential. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TCCTTGGCGTCTTGCATTTCA 0.453 RBM47 54502 broad.mit.edu 37 4 40440609 40440609 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:40440609C>T uc003gvc.2 - 4 1012 c.302G>A c.(301-303)CGC>CAC p.R101H RBM47_uc003gvd.2_Missense_Mutation_p.R101H|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.R63H|RBM47_uc003gvg.1_Missense_Mutation_p.R101H NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 101 RRM 1. nucleus nucleotide binding|RNA binding breast(3) 3 CATCATGAGGCGCAGCTCGTA 0.632 ATP10D 57205 broad.mit.edu 37 4 47514786 47514786 + Nonsense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:47514786C>T uc003gxk.1 + 2 393 c.229C>T c.(229-231)CGA>TGA p.R77* ATP10D_uc003gxj.3_Nonsense_Mutation_p.R77* NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 77 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 CAATCGAATACGAACAACAAA 0.388 NFXL1 152518 broad.mit.edu 37 4 47877167 47877167 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:47877167G>C uc010igh.2 - 18 2400 c.2223C>G c.(2221-2223)ATC>ATG p.I741M NFXL1_uc003gxo.2_Missense_Mutation_p.I66M|NFXL1_uc003gxp.2_Missense_Mutation_p.I741M|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.I741M NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 741 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 ACAGGCTTGTGATCTTACAGT 0.358 CNGA1 1259 broad.mit.edu 37 4 47938591 47938591 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:47938591C>A uc003gxt.3 - 11 2186 c.1920G>T c.(1918-1920)AGG>AGT p.R640S uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.R709S NM_000087 NP_000078 P29973 CNGA1_HUMAN cyclic nucleotide gated channel alpha 1 isoform 640 Cytoplasmic (Potential). response to stimulus|visual perception integral to plasma membrane cGMP binding|ion channel activity ovary(2) 2 TTCGGGCAAACCTGGTTTGCA 0.433 C4orf35 85438 broad.mit.edu 37 4 71200978 71200978 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:71200978A>C uc003hff.2 + 1 308 c.222A>C c.(220-222)AAA>AAC p.K74N NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 74 flagellum calcium ion binding 0 all_hematologic(202;0.196) AAAAGGAAAAACTCAAATCAG 0.368 RUFY3 22902 broad.mit.edu 37 4 71644141 71644141 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:71644141A>G uc003hfq.2 + 8 1475 c.880A>G c.(880-882)AAA>GAA p.K294E RUFY3_uc003hfp.3_Missense_Mutation_p.K354E|RUFY3_uc011cax.1_Missense_Mutation_p.K312E|RUFY3_uc003hfr.2_Missense_Mutation_p.K294E|RUFY3_uc011cay.1_Missense_Mutation_p.K230E NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 294 Potential. negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) ATCCAACACTAAACTGACAGA 0.299 CENPE 1062 broad.mit.edu 37 4 104065732 104065732 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:104065732G>A uc003hxb.1 - 33 4991 c.4901C>T c.(4900-4902)ACA>ATA p.T1634I CENPE_uc003hxc.1_Missense_Mutation_p.T1609I NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1634 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ATTGACAGCTGTCATCTTAAG 0.333 INTS12 57117 broad.mit.edu 37 4 106614632 106614632 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:106614632G>A uc003hxw.2 - 5 579 c.321C>T c.(319-321)GAC>GAT p.D107D INTS12_uc010ilr.2_Silent_p.D107D NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 107 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) CTTCAGTGATGTCTGATTTCA 0.373 CFI 3426 broad.mit.edu 37 4 110681428 110681428 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:110681428G>A uc003hzr.3 - 6 1089 c.881C>T c.(880-882)GCA>GTA p.A294V CFI_uc003hzq.2_Missense_Mutation_p.A91V|CFI_uc011cft.1_Missense_Mutation_p.A294V|CFI_uc003hzs.3_Missense_Mutation_p.A294V NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 294 LDL-receptor class A 2. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TCAATTACCTGCACAGCCAAC 0.413 PITX2 5308 broad.mit.edu 37 4 111539783 111539783 + Missense_Mutation SNP A A T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:111539783A>T uc003iad.2 - 5 1034 c.452T>A c.(451-453)CTA>CAA p.L151Q PITX2_uc003iac.2_Missense_Mutation_p.L158Q|PITX2_uc003iae.2_Missense_Mutation_p.L105Q|PITX2_uc010iml.2_Missense_Mutation_p.L22Q|PITX2_uc003iaf.2_Missense_Mutation_p.L151Q NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 151 L -> V (in RIEG1). determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) ATTCTTGCATAGCTCGGCCTG 0.582 PCDH18 54510 broad.mit.edu 37 4 138451501 138451501 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:138451501A>C uc003ihe.3 - 1 2129 c.1742T>G c.(1741-1743)TTG>TGG p.L581W PCDH18_uc003ihf.3_Missense_Mutation_p.L574W|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.L361W|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 581 Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) ATTATTACGCAATGCAGGCCC 0.463 GRIA2 2891 broad.mit.edu 37 4 158224891 158224891 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:158224891G>T uc003ipm.3 + 3 876 c.417G>T c.(415-417)TTG>TTT p.L139F GRIA2_uc011cit.1_Missense_Mutation_p.L92F|GRIA2_uc003ipl.3_Missense_Mutation_p.L139F|GRIA2_uc003ipk.3_Missense_Mutation_p.L92F|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 139 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TCCTTAGCTTGATTGAATACT 0.458 FSTL5 56884 broad.mit.edu 37 4 162459350 162459350 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:162459350G>A uc003iqh.2 - 10 1716 c.1280C>T c.(1279-1281)TCT>TTT p.S427F FSTL5_uc003iqi.2_Missense_Mutation_p.S426F|FSTL5_uc010iqv.2_Missense_Mutation_p.S426F NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 427 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) CACAAAAAGAGAAGAGATGTC 0.408 IRF2 3660 broad.mit.edu 37 4 185340650 185340650 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr4:185340650G>C uc003iwf.3 - 3 360 c.160C>G c.(160-162)CTC>GTC p.L54V NM_002199 NP_002190 P14316 IRF2_HUMAN interferon regulatory factor 2 54 IRF tryptophan pentad repeat. blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) TTTCTAAAGAGTGGTGCATCT 0.378 IRX2 153572 broad.mit.edu 37 5 2749523 2749523 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr5:2749523C>T uc003jda.2 - 2 870 c.628G>A c.(628-630)GGC>AGC p.G210S C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.G210S NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 210 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) GTCTCCGTGCCCTCCTGCGCC 0.662 KIAA0947 23379 broad.mit.edu 37 5 5457596 5457596 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr5:5457596T>G uc003jdm.3 + 12 1065 c.843T>G c.(841-843)AAT>AAG p.N281K NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 281 ovary(1)|central_nervous_system(1) 2 TATGTCAAAATGTGGAAAAAC 0.433 ROPN1L 83853 broad.mit.edu 37 5 10450088 10450088 + Silent SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr5:10450088T>C uc003jex.3 + 3 551 c.280T>C c.(280-282)TTA>CTA p.L94L NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 94 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 GTATGTGGAATTAACAGATCT 0.388 PDZD2 23037 broad.mit.edu 37 5 32000337 32000337 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr5:32000337G>A uc003jhl.2 + 5 1602 c.1214G>A c.(1213-1215)CGC>CAC p.R405H PDZD2_uc003jhm.2_Missense_Mutation_p.R405H|PDZD2_uc011cnx.1_Missense_Mutation_p.R231H NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 405 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GCCATTCTTCGCTCCGCCACG 0.552 PCDHGB3 56102 broad.mit.edu 37 5 140752135 140752135 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr5:140752135G>A uc003ljw.1 + 1 2174 c.2174G>A c.(2173-2175)GGC>GAC p.G725D 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.G725D|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 725 Cytoplasmic (Potential). 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) GCCACTGAGGGCTACTTTCAG 0.562 CSNK1A1 1452 broad.mit.edu 37 5 148891431 148891431 + Nonsense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr5:148891431G>A uc003lqx.1 - 6 1081 c.601C>T c.(601-603)CGA>TGA p.R201* CSNK1A1_uc011dcb.1_Nonsense_Mutation_p.R110*|CSNK1A1_uc011dcc.1_Nonsense_Mutation_p.R140*|CSNK1A1_uc003lqv.1_Nonsense_Mutation_p.R112*|CSNK1A1_uc003lqw.1_Nonsense_Mutation_p.R229*|CSNK1A1_uc003lqy.1_Nonsense_Mutation_p.R201*|CSNK1A1_uc010jha.1_Nonsense_Mutation_p.R201* NM_001892 NP_001883 P48729 KC1A_HUMAN casein kinase 1, alpha 1 isoform 2 201 Protein kinase. cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein binding|protein serine/threonine kinase activity breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) ATGTCATCTCGGCGACTAGAA 0.348 RFX6 222546 broad.mit.edu 37 6 117239221 117239221 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr6:117239221C>A uc003pxm.2 + 10 1057 c.994C>A c.(994-996)CCT>ACT p.P332T NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 332 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TGTACTCATTCCTGCAACAAT 0.289 C6orf174 387104 broad.mit.edu 37 6 127836053 127836053 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr6:127836053C>T uc003qbd.2 - 3 2106 c.1241G>A c.(1240-1242)CGC>CAC p.R414H NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 414 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) CTCGGCTTTGCGGAGGCGGTA 0.622 SYNE1 23345 broad.mit.edu 37 6 152671444 152671444 + Missense_Mutation SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr6:152671444T>G uc010kiw.2 - 72 12362 c.11760A>C c.(11758-11760)AAA>AAC p.K3920N SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Missense_Mutation_p.K3920N|SYNE1_uc010kja.1_Missense_Mutation_p.K625N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3920 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGTCTTTGACTTTCGCCTCCA 0.463 HNSCC(10;0.0054) PDE10A 10846 broad.mit.edu 37 6 165989936 165989936 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr6:165989936T>C uc003qun.2 - 2 242 c.1A>G c.(1-3)ATG>GTG p.M1V PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_5'UTR|PDE10A_uc003quo.2_Intron NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 1 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) tctatcctcattctacattct 0 SDK1 221935 broad.mit.edu 37 7 4116774 4116774 + Missense_Mutation SNP G G T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:4116774G>T uc003smx.2 + 21 3294 c.3155G>T c.(3154-3156)GGC>GTC p.G1052V SDK1_uc010kso.2_Missense_Mutation_p.G328V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1052 Fibronectin type-III 4. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACTGCCGTGGGCACTGGCCTG 0.577 HOXA4 3201 broad.mit.edu 37 7 27169073 27169073 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:27169073C>T uc003sym.3 - 2 781 c.734G>A c.(733-735)CGC>CAC p.R245H HOXA3_uc003syk.2_5'Flank NM_002141 NP_002132 Q00056 HXA4_HUMAN homeobox A4 245 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 GATCTCGATGCGGCGCCGCCG 0.587 GHRHR 2692 broad.mit.edu 37 7 31011683 31011683 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:31011683C>T uc003tbx.2 + 6 618 c.570C>T c.(568-570)GAC>GAT p.D190D GHRHR_uc003tbw.1_Silent_p.D190D|GHRHR_uc003tby.2_Silent_p.D126D|GHRHR_uc003tbz.2_Missense_Mutation_p.T8M NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 190 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) TCCACAGCGACGACACTGACC 0.582 GLI3 2737 broad.mit.edu 37 7 42006103 42006103 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:42006103C>T uc011kbh.1 - 15 2659 c.2568G>A c.(2566-2568)TCG>TCA p.S856S GLI3_uc011kbg.1_Silent_p.S797S NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 856 S->A: Loss of proteolytic processing. negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TCAGGTAGGCCGAGCTGATGG 0.662 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome EGFR 1956 broad.mit.edu 37 7 55232990 55232990 + Silent SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:55232990C>A uc003tqk.2 + 15 1986 c.1740C>A c.(1738-1740)ATC>ATA p.I580I EGFR_uc003tqi.2_Silent_p.I580I|EGFR_uc003tqj.2_Silent_p.I580I|EGFR_uc010kzg.1_Silent_p.I535I|EGFR_uc011kco.1_Silent_p.I527I|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 580 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ACAACTGTATCCAGTGTGCCC 0.478 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) POM121C 100101267 broad.mit.edu 37 7 75068500 75068500 + Missense_Mutation SNP C C A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:75068500C>A uc010lde.1 - 4 956 c.956G>T c.(955-957)CGC>CTC p.R319L POM121C_uc003udk.3_Missense_Mutation_p.R77L A8CG34 P121C_HUMAN Homo sapiens POM121-2 mRNA for nuclear pore membrane protein 121-2, partial cds. 319 Required for targeting to the nucleus and nuclear pore complex.|Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 GCTATCATGGCGCCTGCGACA 0.453 DBF4 10926 broad.mit.edu 37 7 87506063 87506063 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:87506063A>C uc003ujf.1 + 1 520 c.16A>C c.(16-18)ATG>CTG p.M6L SLC25A40_uc003uje.2_5'Flank|DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN activator of S phase kinase 6 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding lung(2) 2 Esophageal squamous(14;0.00202) Breast(660;0.0334) CTCCGGAGCCATGAGGATCCA 0.597 SLC26A5 375611 broad.mit.edu 37 7 103033484 103033484 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:103033484C>T uc003vbz.2 - 10 1237 c.1001G>A c.(1000-1002)AGC>AAC p.S334N SLC26A5_uc003vbt.1_Missense_Mutation_p.S334N|SLC26A5_uc003vbu.1_Missense_Mutation_p.S334N|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_Intron|SLC26A5_uc003vbx.2_Missense_Mutation_p.S334N|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 334 Extracellular (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 GTGGAAGAGGCTGGTGTCCGG 0.478 RELN 5649 broad.mit.edu 37 7 103131143 103131143 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:103131143T>C uc003vca.2 - 59 9737 c.9577A>G c.(9577-9579)ATC>GTC p.I3193V RELN_uc010liz.2_Missense_Mutation_p.I3193V NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 3193 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGCAGCTGGATGGTGATTCTT 0.463 UBN2 254048 broad.mit.edu 37 7 138944087 138944087 + Missense_Mutation SNP G G C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:138944087G>C uc011kqr.1 + 5 876 c.876G>C c.(874-876)AAG>AAC p.K292N UBN2_uc003vuv.2_Missense_Mutation_p.K15N NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 292 Lys-rich. ovary(1)|skin(1) 2 AGGAGAAGAAGCCAAGGAAAA 0.403 OR9A2 135924 broad.mit.edu 37 7 142723590 142723590 + Silent SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr7:142723590C>T uc003wcc.1 - 1 630 c.630G>A c.(628-630)ACG>ACA p.T210T NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.059) AGGAGACAATCGTAGGGATCA 0.468 ASH2L 9070 broad.mit.edu 37 8 37978477 37978477 + Silent SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr8:37978477T>C uc003xkt.3 + 10 1033 c.975T>C c.(973-975)CTT>CTC p.L325L ASH2L_uc011lbk.1_Silent_p.L186L|ASH2L_uc003xku.3_Silent_p.L231L|ASH2L_uc010lwa.2_Silent_p.L231L NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 325 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) CTCAGCGCCTTCCCCCTCATG 0.468 OREG0018719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CA3 761 broad.mit.edu 37 8 86352125 86352125 + Silent SNP T T G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr8:86352125T>G uc003ydj.2 + 2 302 c.219T>G c.(217-219)ACT>ACG p.T73T CA13_uc003ydf.1_RNA|CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 73 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 TTGATGATACTTATGATAGGT 0.408 OSGIN2 734 broad.mit.edu 37 8 90937164 90937164 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr8:90937164G>A uc003yeg.2 + 6 1268 c.922G>A c.(922-924)GGT>AGT p.G308S OSGIN2_uc003yeh.2_Missense_Mutation_p.G352S NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 308 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) GTTAATTGTAGGTTCTGGGCT 0.428 TRPS1 7227 broad.mit.edu 37 8 116426744 116426744 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr8:116426744T>C uc003ynz.2 - 6 3812 c.3353A>G c.(3352-3354)AAG>AGG p.K1118R TRPS1_uc011lhy.1_Missense_Mutation_p.K1122R|TRPS1_uc003yny.2_Missense_Mutation_p.K1131R|TRPS1_uc010mcy.2_Missense_Mutation_p.K1118R NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1118 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AACGGAGAGCTTATATTTACT 0.473 Langer-Giedion_syndrome RNF139 11236 broad.mit.edu 37 8 125499257 125499257 + Missense_Mutation SNP A A T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr8:125499257A>T uc003yrc.2 + 2 1710 c.1367A>T c.(1366-1368)AAG>ATG p.K456M NM_007218 NP_009149 Q8WU17 RN139_HUMAN ring finger protein 139 456 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding kidney(1) 1 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CTCTGGGAAAAGCTTGACGAT 0.348 Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 SVEP1 79987 broad.mit.edu 37 9 113192672 113192672 + Missense_Mutation SNP A A C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr9:113192672A>C uc010mtz.2 - 33 5749 c.5412T>G c.(5410-5412)ATT>ATG p.I1804M SVEP1_uc010mty.2_5'Flank NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 1804 Sushi 7. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CTACTGTATAAATCTCACCTG 0.423 AKNA 80709 broad.mit.edu 37 9 117143453 117143453 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr9:117143453T>C uc004biq.3 - 1 296 c.161A>G c.(160-162)GAG>GGG p.E54G AKNA_uc004bir.3_Missense_Mutation_p.E54G|AKNA_uc004bis.3_Missense_Mutation_p.E54G|AKNA_uc010mve.2_Intron|AKNA_uc004biu.1_5'UTR|AKNA_uc004biv.1_Missense_Mutation_p.E54G|AKNA_uc004biw.1_Missense_Mutation_p.E54G NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 54 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 CTCTAGGAGCTCGGGGCTGGT 0.637 PSMD5 5711 broad.mit.edu 37 9 123583640 123583640 + Missense_Mutation SNP T T C TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr9:123583640T>C uc004bko.2 - 8 1128 c.1109A>G c.(1108-1110)TAC>TGC p.Y370C PSMD5_uc011lye.1_Missense_Mutation_p.Y327C NM_005047 NP_005038 Q16401 PSMD5_HUMAN proteasome 26S non-ATPase subunit 5 370 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding 0 TACTGGTAAGTACAGAAGAGA 0.363 OR1L1 26737 broad.mit.edu 37 9 125423911 125423911 + Missense_Mutation SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr9:125423911A>G uc011lza.1 + 1 67 c.67A>G c.(67-69)AAA>GAA p.K23E NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, 23 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TAAGAAGAATAAAAGGAGAAA 0.279 C9orf171 389799 broad.mit.edu 37 9 135374980 135374980 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr9:135374980C>T uc004cbn.2 + 4 673 c.625C>T c.(625-627)CGG>TGG p.R209W C9orf171_uc004cbo.2_Missense_Mutation_p.R173W NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 209 ovary(4)|large_intestine(1) 5 ATTTGGGATCCGGGCACGGTA 0.597 FAM9A 171482 broad.mit.edu 37 X 8761697 8761697 + Splice_Site SNP A A G TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chrX:8761697A>G uc004csg.2 - 8 1041 c.930_splice c.e8+1 p.K310_splice NM_174951 NP_777611 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A nucleolus 0 Hepatocellular(5;0.219) AATAGAACAGACCTTTAGTAA 0.378 MED12 9968 broad.mit.edu 37 X 70341241 70341241 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chrX:70341241C>T uc004dyy.2 + 6 999 c.800C>T c.(799-801)CCT>CTT p.P267L MED12_uc011mpq.1_Missense_Mutation_p.P267L|MED12_uc004dyz.2_Missense_Mutation_p.P267L|MED12_uc004dza.2_Missense_Mutation_p.P114L NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 267 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) AAGATCCGCCCTGGAGAGGAT 0.512 MID2 11043 broad.mit.edu 37 X 107084451 107084451 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chrX:107084451C>T uc004enl.2 + 2 1129 c.556C>T c.(556-558)CCA>TCA p.P186S MID2_uc004enk.2_Missense_Mutation_p.P186S NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 186 centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 GGAACCAGTGCCAGACACACA 0.522 DCAF12L1 139170 broad.mit.edu 37 X 125685821 125685821 + Silent SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chrX:125685821G>A uc004eul.2 - 1 1022 c.771C>T c.(769-771)ATC>ATT p.I257I NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 257 skin(3)|ovary(1) 4 TGGGGTTGATGATGGCCCTGG 0.622 USP26 83844 broad.mit.edu 37 X 132160682 132160682 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chrX:132160682G>A uc010nrm.1 - 6 2037 c.1567C>T c.(1567-1569)CGC>TGC p.R523C USP26_uc011mvf.1_Missense_Mutation_p.R523C NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 523 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) AAGCTATAGCGTTTGAGGTGA 0.393 SLITRK4 139065 broad.mit.edu 37 X 142718111 142718111 + Missense_Mutation SNP C C T TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chrX:142718111C>T uc004fbx.2 - 2 1190 c.814G>A c.(814-816)GTG>ATG p.V272M SLITRK4_uc004fby.2_Missense_Mutation_p.V272M NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN slit and trk like 4 protein precursor 272 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) AGGATGCGCACGTCAAAATCA 0.448 ATP2B3 492 broad.mit.edu 37 X 152821535 152821535 + Missense_Mutation SNP G G A TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chrX:152821535G>A uc004fht.1 + 12 2213 c.2087G>A c.(2086-2088)CGT>CAT p.R696H ATP2B3_uc004fhs.1_Missense_Mutation_p.R696H NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 696 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AAATGCCAGCGTGCTGGCATC 0.597 PLEKHA6 22874 broad.mit.edu 37 1 204219673 204219673 + Splice_Site DEL C C - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:204219673delC uc001hau.2 - 10 1910 c.1593_splice c.e10+1 p.D531_splice PLEKHA6_uc009xaw.1_Splice_Site_p.D229_splice|PLEKHA6_uc009xax.1_Splice_Site_p.D211_splice|PLEKHA6_uc009xay.1_Splice_Site_p.D182_splice|PLEKHA6_uc009xaz.1_Splice_Site|PLEKHA6_uc009xba.1_Splice_Site_p.D202_splice|PLEKHA6_uc009xbb.1_Splice_Site_p.D184_splice|PLEKHA6_uc009xbc.1_Intron NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCTGCTCTTACATCTGTGTCT 0.607 PLEKHA6 22874 broad.mit.edu 37 1 204219673 204219673 + Splice_Site DEL C C - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr1:204219673delC uc001hau.2 - 10 1910 c.1593_splice c.e10+1 p.D531_splice PLEKHA6_uc009xaw.1_Splice_Site_p.D229_splice|PLEKHA6_uc009xax.1_Splice_Site_p.D211_splice|PLEKHA6_uc009xay.1_Splice_Site_p.D182_splice|PLEKHA6_uc009xaz.1_Splice_Site|PLEKHA6_uc009xba.1_Splice_Site_p.D202_splice|PLEKHA6_uc009xbb.1_Splice_Site_p.D184_splice|PLEKHA6_uc009xbc.1_Intron NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GCTGCTCTTACATCTGTGTCT 0.607 LRRC10 376132 broad.mit.edu 37 12 70004268 70004268 + Frame_Shift_Del DEL C C - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr12:70004268delC uc001svc.2 - 1 675 c.351delG c.(349-351)CTGfs p.L117fs NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 117 LRR 3. nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GGAGCAGGCTCAGCTCACTGG 0.572 CCNK 8812 broad.mit.edu 37 14 99967136 99967137 + Frame_Shift_Del DEL CA CA - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr14:99967136_99967137delCA uc001ygi.3 + 5 575_576 c.445_446delCA c.(445-447)CAGfs p.Q149fs CCNK_uc001ygg.3_Frame_Shift_Del_p.Q149fs NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 149 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) AATCTTACTGCAGACCATCAAG 0.347 FMNL1 752 broad.mit.edu 37 17 43318901 43318901 + Frame_Shift_Del DEL G G - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr17:43318901delG uc002iin.2 + 14 1685 c.1485delG c.(1483-1485)CCGfs p.P495fs FMNL1_uc002iiq.2_Frame_Shift_Del_p.P73fs|FMNL1_uc010dag.2_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 495 Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 TGCGGGGGCCGGGGGATGCTG 0.697 FEZF2 55079 broad.mit.edu 37 3 62358230 62358232 + In_Frame_Del DEL CCG CCG - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr3:62358230_62358232delCCG uc003dlh.2 - 1 519_521 c.312_314delCGG c.(310-315)GGCGGA>GGA p.104_105GG>G FEZF2_uc003dli.2_In_Frame_Del_p.104_105GG>G NM_018008 NP_060478 Q8TBJ5 FEZF2_HUMAN FEZ family zinc finger 2 104_105 Gly-rich. transcription, DNA-dependent nucleus zinc ion binding lung(1) 1 Lung SC(41;0.0262) BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957) gccgccgcctccgccgccgccCG 0.502 INTS8 55656 broad.mit.edu 37 8 95866100 95866108 + In_Frame_Del DEL TTTATATTC TTTATATTC - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr8:95866099_95866107GTTTATATTC>G uc003yhb.3 + 13 1834_1842 c.1708_1716GTTTATATTC>G c.(1708-1716)gtttatatt>G p.VYI570del INTS8_uc003yha.1_In_Frame_Del_p.VYI570del|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_In_Frame_Del_p.VYI397del NM_017864 NP_060334 Q75QN2 INT8_HUMAN Homo sapiens integrator complex subunit 8 (INTS8), mRNA. 570 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) AAGAGATTTGGTTTATATTCTTATGGCCA 0.354 RBM12 10137 broad.mit.edu 37 20 34242522 34242539 + In_Frame_Del DEL CATGGGTGGCAGTGGGGT CATGGGTGGCAGTGGGGT - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr20:34242521_34242538ACATGGGTGGCAGTGGGGT>A uc021wcr.1 - 0 707_724 c.707_724ACCCCACTGCCACCCATGT>T c.(706-726)accccactgccacccatgtcg>aTcg p.236_242TPLPPMS>I CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc002xds.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc002xdr.3_In_Frame_Del_p.236_242TPLPPMS>I|RBM12_uc021wcq.1_In_Frame_Del_p.236_242TPLPPMS>I NM_152838 NP_690051 Q9NTZ6 RBM12_HUMAN Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA. 236 Pro-rich. nucleus RNA binding|nucleotide binding|protein binding p.S242S(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GGCATGCCCGACATGGGTGGCAGTGGGGTCATGGGTGG 0.555 GTSF1L 149699 broad.mit.edu 37 20 42355141 42355141 + Frame_Shift_Del DEL T T - TCGA-BR-7715-01A-11D-2053-08 TCGA-BR-7715-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx 89cb9b02-63ad-44b5-8412-acd337f8263c 11a02247-a591-4d9d-8ae6-614d7e946a6f g.chr20:42355140_42355140GT>G uc002xld.3 - 0 503 c.195_195AC>C c.(193-195)aacfs p.N65fs GTSF1L_uc002xlc.3_Frame_Shift_Del_p.N65fs NM_176791 NP_789761 Q9H1H1 GTSFL_HUMAN Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA. 65 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) CAGCGCTCCTGTTGACACAAA 0.527