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 PRDM16 63976 broad.mit.edu 37 1 3328335 3328335 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:3328335G>A uc001akf.2 + 9 1654 c.1574G>A c.(1573-1575)CGG>CAG p.R525Q PRDM16_uc001akc.2_Missense_Mutation_p.R525Q|PRDM16_uc001akd.2_Missense_Mutation_p.R525Q|PRDM16_uc001ake.2_Missense_Mutation_p.R525Q|PRDM16_uc009vlh.2_Missense_Mutation_p.R226Q NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 525 Pro-rich. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TTGTACCCCCGGCCGCCTCTG 0.706000 T EVI1 MDS|AML PER3 8863 broad.mit.edu 37 1 7887365 7887365 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:7887365C>T uc001aoo.2 + 17 2527 c.2352C>T c.(2350-2352)ACC>ACT p.T784T PER3_uc009vmg.1_Silent_p.T792T|PER3_uc009vmh.1_Silent_p.T785T|PER3_uc001aop.2_Silent_p.T792T|PER3_uc010nzw.1_Silent_p.T473T NM_016831 NP_058515 P56645 PER3_HUMAN period 3 784 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) CGAGCCCGACCTTCCCACCTG 0.701000 PTCHD2 57540 broad.mit.edu 37 1 11561886 11561886 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:11561886C>T uc001ash.3 + 2 975 c.837C>T c.(835-837)TTC>TTT p.F279F PTCHD2_uc001asi.1_Silent_p.F279F NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 279 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGCTCATCTTCCTGGCGCGCG 0.657000 RNF220 55182 broad.mit.edu 37 1 44878323 44878323 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:44878323A>C uc001clv.1 + 2 914 c.554A>C c.(553-555)AAG>ACG p.K185T RNF220_uc001clw.1_Missense_Mutation_p.K185T NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 185 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ACTGGGAAGAAGATTTTTGCT 0.498000 CYP4B1 1580 broad.mit.edu 37 1 47276838 47276838 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:47276838T>G uc001cqm.3 + 3 433 c.349T>G c.(349-351)TTC>GTC p.F117V CYP4B1_uc009vyl.1_Intron|CYP4B1_uc001cqn.3_Missense_Mutation_p.F117V|CYP4B1_uc009vym.2_Intron|CYP4B1_uc010omk.1_Intron|CYP4B1_uc010oml.1_5'UTR NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 117 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) TGTGTATGACTTCTTCCTCCA 0.582000 DAB1 1600 broad.mit.edu 37 1 57537289 57537289 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:57537289C>T uc001cys.1 - 8 1138 c.464G>A c.(463-465)AGA>AAA p.R155K DAB1_uc001cyt.1_Missense_Mutation_p.R155K|DAB1_uc001cyq.1_Missense_Mutation_p.R155K|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.R155K|DAB1_uc009vzx.1_Missense_Mutation_p.R155K NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 155 PID. cell differentiation|nervous system development skin(2)|ovary(1) 3 AAAGAGATCTCTCAAGTCCAG 0.398000 NFIA 4774 broad.mit.edu 37 1 61872278 61872278 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:61872278C>T uc001czw.2 + 9 1783 c.1299C>T c.(1297-1299)CCC>CCT p.P433P NFIA_uc001czy.2_Silent_p.P425P|NFIA_uc010oos.1_Silent_p.P478P|NFIA_uc001czv.2_Silent_p.P433P|NFIA_uc001czx.2_Silent_p.P81P|NFIA_uc009wae.2_RNA NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 433 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 CATTCCTTCCCACCCCAATGT 0.602000 INADL 10207 broad.mit.edu 37 1 62271131 62271131 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:62271131G>C uc001dab.2 + 13 1675 c.1561G>C c.(1561-1563)GAC>CAC p.D521H INADL_uc009waf.1_Missense_Mutation_p.D521H|INADL_uc001daa.2_Missense_Mutation_p.D521H|INADL_uc001dad.3_Missense_Mutation_p.D218H|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 521 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 AAAAGTCCCAGACTCTCCAGA 0.353000 DIRAS3 9077 broad.mit.edu 37 1 68512611 68512611 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:68512611G>A uc001ded.2 - 2 665 c.370C>T c.(370-372)CTG>TTG p.L124L uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 124 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 AGCTCTTCCAGGGTTTCCTTC 0.552000 TTLL7 79739 broad.mit.edu 37 1 84369788 84369788 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:84369788T>G uc001djc.2 - 18 2578 c.2182A>C c.(2182-2184)AAA>CAA p.K728Q 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 7 728 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) GAGTCCAATTTTATGAGCCAA 0.333000 SLC44A3 126969 broad.mit.edu 37 1 95303425 95303425 + Nonsense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:95303425T>G uc001dqv.3 + 6 775 c.668T>G c.(667-669)TTA>TGA p.L223* SLC44A3_uc001dqx.3_Nonsense_Mutation_p.L223*|SLC44A3_uc010otq.1_Nonsense_Mutation_p.L155*|SLC44A3_uc010otr.1_Nonsense_Mutation_p.L187*|SLC44A3_uc001dqw.3_Nonsense_Mutation_p.L175*|SLC44A3_uc010ots.1_Nonsense_Mutation_p.L143*|SLC44A3_uc009wds.2_Nonsense_Mutation_p.L126*|SLC44A3_uc010ott.1_Nonsense_Mutation_p.L143*|SLC44A3_uc010otu.1_RNA NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 223 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) ATCCTCGCATTAGGTAATTCT 0.348000 FNDC7 163479 broad.mit.edu 37 1 109270515 109270515 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:109270515A>G uc001dvx.2 + 7 1197 c.1197A>G c.(1195-1197)GAA>GAG p.E399E FNDC7_uc010ova.1_Silent_p.E166E NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 400 Fibronectin type-III 5. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GTGGTGCCGAACTGTATGAAA 0.512000 PRUNE 58497 broad.mit.edu 37 1 151006649 151006649 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:151006649T>A uc001ewh.1 + 8 1437 c.1301T>A c.(1300-1302)TTC>TAC p.F434Y PRUNE_uc001ewi.1_Missense_Mutation_p.F252Y|PRUNE_uc010pco.1_Missense_Mutation_p.F202Y|PRUNE_uc001ewj.1_Missense_Mutation_p.F149Y|PRUNE_uc001ewk.1_Missense_Mutation_p.F199Y|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank NM_021222 NP_067045 Q86TP1 PRUNE_HUMAN prune 434 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding ovary(1) 1 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGGCCGTCTTCGAGAAGTGC 0.582000 POGZ 23126 broad.mit.edu 37 1 151380596 151380596 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:151380596A>C uc001eyd.1 - 15 2661 c.2355T>G c.(2353-2355)GCT>GCG p.A785A POGZ_uc001eye.1_Silent_p.A732A|POGZ_uc010pdb.1_Silent_p.A776A|POGZ_uc001eyf.1_Silent_p.A741A|POGZ_uc010pdc.1_Silent_p.A723A|POGZ_uc009wmv.1_Silent_p.A690A|POGZ_uc010pdd.1_Silent_p.A276A NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 785 C2H2-type 8. cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GGTTGGCATAAGCTCGAGAAC 0.393000 TCHHL1 126637 broad.mit.edu 37 1 152059360 152059360 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:152059360T>C uc001ezo.1 - 3 863 c.798A>G c.(796-798)AAA>AAG p.K266K NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 266 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTGTTGCTTCTTTTGGTGGTG 0.428000 FLG 2312 broad.mit.edu 37 1 152280800 152280800 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:152280800T>G uc001ezu.1 - 3 6598 c.6562A>C c.(6562-6564)AGT>CGT p.S2188R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2188 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTTGCACTTCTGGATCCT 0.532000 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152329336 152329336 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:152329336T>C uc001ezw.3 - 3 999 c.926A>G c.(925-927)CAA>CGA p.Q309R uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 309 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATAGCTAAATTGATTTCCTTG 0.473000 LMX1A 4009 broad.mit.edu 37 1 165218827 165218827 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:165218827T>G uc001gcy.1 - 3 535 c.314A>C c.(313-315)GAG>GCG p.E105A LMX1A_uc001gcz.1_Missense_Mutation_p.E105A NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 105 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) CATAACAAACTCATTGGGAGC 0.522000 TADA1 117143 broad.mit.edu 37 1 166831580 166831580 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:166831580C>T uc001gdw.2 - 5 584 c.400G>A c.(400-402)GAC>AAC p.D134N TADA1_uc001gdv.2_5'UTR NM_053053 NP_444281 Q96BN2 TADA1_HUMAN transcriptional adaptor 1-like 134 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(1) 1 TTCAAGTCGTCATCATCTTGG 0.438000 SLC9A11 284525 broad.mit.edu 37 1 173517591 173517591 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:173517591T>G uc001giz.2 - 12 1821 c.1398A>C c.(1396-1398)GAA>GAC p.E466D SLC9A11_uc009wwe.2_Missense_Mutation_p.E24D|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 466 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TCAAAATTTTTTCTGTTTTAA 0.353000 C1orf27 54953 broad.mit.edu 37 1 186375301 186375301 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:186375301G>A uc001grw.2 + 13 1323 c.1087G>A c.(1087-1089)GAC>AAC p.D363N C1orf27_uc010poq.1_Missense_Mutation_p.D340N|C1orf27_uc010por.1_Missense_Mutation_p.D331N NM_017847 NP_060317 Q5SWX8 ODR4_HUMAN odorant response abnormal 4 isoform 1 363 integral to membrane oxidoreductase activity|zinc ion binding ovary(1) 1 TTATAAATTTGACGATGAGTC 0.388000 FAM58B 339521 broad.mit.edu 37 1 200182938 200182938 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:200182938T>G uc009wzi.1 + 1 283 c.247T>G c.(247-249)TTG>GTG p.L83V NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 83 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) TTCCATTTACTTGGCCGGCAA 0.527000 CHIT1 1118 broad.mit.edu 37 1 203188382 203188382 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:203188382A>C uc001gzn.2 - 9 1087 c.991T>G c.(991-993)TGG>GGG p.W331G FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Missense_Mutation_p.W122G|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.W322G NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 331 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 AAGCCCACCCACTGGTTGTCC 0.567000 USH2A 7399 broad.mit.edu 37 1 216420388 216420388 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:216420388T>A uc001hku.1 - 13 2735 c.2348A>T c.(2347-2349)AAC>ATC p.N783I USH2A_uc001hkv.2_Missense_Mutation_p.N783I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 783 Laminin EGF-like 5.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCATAAAAGTTTTCTCTGCA 0.483000 HNSCC(13;0.011) RYR2 6262 broad.mit.edu 37 1 237813289 237813289 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:237813289C>T uc001hyl.1 + 50 7745 c.7625C>T c.(7624-7626)GCT>GTT p.A2542V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2542 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGCACCACGCTTCTCTCATT 0.468000 AKT3 10000 broad.mit.edu 37 1 243858949 243858949 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:243858949T>A uc001iab.1 - 2 197 c.116A>T c.(115-117)AAA>ATA p.K39I AKT3_uc001hzz.1_Missense_Mutation_p.K39I NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 39 PH. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) AGGTTTCTCTTTATATCCTAT 0.338000 AKT3 10000 broad.mit.edu 37 1 243858952 243858952 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:243858952T>A uc001iab.1 - 2 194 c.113A>T c.(112-114)TAT>TTT p.Y38F AKT3_uc001hzz.1_Missense_Mutation_p.Y38F NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 38 PH. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) TTTCTCTTTATATCCTATGAA 0.338000 OR2G6 391211 broad.mit.edu 37 1 248685027 248685027 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:248685027T>G uc001ien.1 + 1 80 c.80T>G c.(79-81)CTT>CGT p.L27R NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 27 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GAGAGGTTTCTTTTTGCCATC 0.458000 ITGA8 8516 broad.mit.edu 37 10 15650283 15650283 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:15650283A>C uc001ioc.1 - 16 1560 c.1560T>G c.(1558-1560)TCT>TCG p.S520S ITGA8_uc010qcb.1_Silent_p.S505S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 520 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 ATACTCTTAAAGAAAAGCTAT 0.308000 VIM 7431 broad.mit.edu 37 10 17277380 17277380 + Missense_Mutation SNP G G T rs150986868 TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:17277380G>T uc001iou.2 + 7 1634 c.1221G>T c.(1219-1221)GAG>GAT p.E407D VIM_uc001iov.1_Missense_Mutation_p.E407D|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E407D|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E365D|VIM_uc001ipc.1_Missense_Mutation_p.E407D NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 407 Rod.|Coil 2. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton p.E407K(1) large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 TGGAAGGCGAGGAGAGCAGGT 0.368000 LYZL1 84569 broad.mit.edu 37 10 29599960 29599960 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:29599960A>C uc001iul.2 + 5 614 c.557A>C c.(556-558)GAG>GCG p.E186A NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 140 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Breast(68;0.203) GACCTGTCCGAGTGGAAAAAA 0.507000 ZEB1 6935 broad.mit.edu 37 10 31810825 31810825 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:31810825A>G uc001ivs.3 + 7 2625 c.2562A>G c.(2560-2562)CAA>CAG p.Q854Q ZEB1_uc001ivr.3_Silent_p.Q636Q|ZEB1_uc010qee.1_Silent_p.Q636Q|ZEB1_uc010qef.1_Silent_p.Q636Q|ZEB1_uc009xlj.1_Silent_p.Q780Q|ZEB1_uc010qeg.1_Silent_p.Q713Q|ZEB1_uc009xlk.1_Silent_p.Q636Q|ZEB1_uc001ivt.3_Silent_p.Q636Q|ZEB1_uc001ivu.3_Silent_p.Q855Q|ZEB1_uc001ivv.3_Silent_p.Q834Q|ZEB1_uc010qeh.1_Silent_p.Q787Q|ZEB1_uc009xlo.1_Silent_p.Q837Q|ZEB1_uc009xlp.2_Silent_p.Q838Q NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 854 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) CTGCAGTCCAAGAACCACCCT 0.438000 LRRC18 474354 broad.mit.edu 37 10 50122031 50122031 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:50122031A>C uc001jhd.2 - 1 250 c.170T>G c.(169-171)CTT>CGT p.L57R WDFY4_uc001jha.3_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.L57R NM_001006939 NP_001006940 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 57 LRR 2. cytoplasm ovary(1)|pancreas(1) 2 ATTCCGGCTAAGGTCCAGCTC 0.507000 AGAP7 653268 broad.mit.edu 37 10 51465608 51465608 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:51465608G>A uc001jio.2 - 7 974 c.848C>T c.(847-849)ACC>ATC p.T283I PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 283 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GGAACACAGGGTGACGTATTT 0.428000 DKK1 22943 broad.mit.edu 37 10 54074383 54074383 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:54074383G>A uc001jjr.2 + 1 343 c.189G>A c.(187-189)GCG>GCA p.A63A uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 63 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 TCAGCGCCGCGCCGGGAATCC 0.622000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM13C 220965 broad.mit.edu 37 10 61112135 61112135 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:61112135G>A uc001jkn.2 - 4 353 c.219C>T c.(217-219)ACC>ACT p.T73T FAM13C_uc001jko.2_Silent_p.T73T|FAM13C_uc010qid.1_5'UTR|FAM13C_uc010qie.1_5'UTR|FAM13C_uc010qif.1_Silent_p.T95T|FAM13C_uc001jkp.2_5'UTR NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 73 ovary(2) 2 CCACCAGCACGGTCGCCTCTA 0.582000 UNC5B 219699 broad.mit.edu 37 10 73051239 73051239 + Missense_Mutation SNP G G A rs141795100 byFrequency TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:73051239G>A uc001jro.2 + 10 1790 c.1345G>A c.(1345-1347)GCC>ACC p.A449T UNC5B_uc001jrp.2_Missense_Mutation_p.A438T NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 449 Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 GACAGCCAGCGCCGGCATCTA 0.617000 TTC18 118491 broad.mit.edu 37 10 75056898 75056898 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:75056898A>T uc009xrc.2 - 16 1877 c.1756T>A c.(1756-1758)TTG>ATG p.L586M TTC18_uc001jty.2_Missense_Mutation_p.L586M|TTC18_uc009xrd.1_Missense_Mutation_p.L400M|TTC18_uc001jtx.2_Translation_Start_Site NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 586 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) GTTGTCTTCAAGTATTTATCT 0.438000 ABCC2 1244 broad.mit.edu 37 10 101595995 101595995 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:101595995G>A uc001kqf.2 + 25 3701 c.3562G>A c.(3562-3564)GTG>ATG p.V1188M NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 1188 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ACACAATGAGGTGAGGATTGA 0.498000 LDB1 8861 broad.mit.edu 37 10 103870449 103870449 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:103870449C>T uc009xwz.2 - 6 705 c.362G>A c.(361-363)CGG>CAG p.R121Q LDB1_uc001kuk.3_Missense_Mutation_p.R85Q|LDB1_uc001kul.3_Missense_Mutation_p.R85Q NM_001113407 NP_001106878 Q86U70 LDB1_HUMAN LIM domain binding 1 isoform 1 121 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity large_intestine(1) 1 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) GATCAGGGTCCGGCCAATGGC 0.552000 FAM45A 404636 broad.mit.edu 37 10 120896041 120896041 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:120896041C>T uc001ldw.2 + 9 1000 c.956C>T c.(955-957)TCG>TTG p.S319L FAM45A_uc010qsv.1_Missense_Mutation_p.S311L|FAM45A_uc010qsw.1_Missense_Mutation_p.S168L|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.S246L|FAM45A_uc010qsz.1_Missense_Mutation_p.S208L NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN hypothetical protein LOC404636 319 ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) TCAGAAGTTTCGGCTGATGGA 0.388000 LHPP 64077 broad.mit.edu 37 10 126301905 126301905 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:126301905G>A uc001lhs.1 + 7 809 c.789G>A c.(787-789)CTG>CTA p.L263L LHPP_uc001lht.1_3'UTR|LHPP_uc009yai.1_Silent_p.L180L|LHPP_uc009yaj.1_RNA NM_022126 NP_071409 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic 263 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity 0 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) CAGTGGACCTGCTGCTGCAGC 0.438000 SYCE1 93426 broad.mit.edu 37 10 135372434 135372434 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr10:135372434T>C uc001lno.2 - 4 323 c.218A>G c.(217-219)GAC>GGC p.D73G CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Missense_Mutation_p.D73G|SYCE1_uc001lnn.2_Missense_Mutation_p.D37G NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 73 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CTCTCCTAGGTCTTTATTGGC 0.512000 OR51B2 79345 broad.mit.edu 37 11 5344612 5344612 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:5344612A>G uc001mao.1 - 1 971 c.916T>C c.(916-918)TCT>CCT p.S306P HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTATGTTTAGATAAAAGGCGG 0.363000 OR56B1 387748 broad.mit.edu 37 11 5757774 5757774 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:5757774A>G uc001mbt.1 + 1 28 c.28A>G c.(28-30)ATC>GTC p.I10V TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.I10V|OR56B1_uc009yev.1_Missense_Mutation_p.I10V NM_001005180 NP_001005180 Q8NGI3 O56B1_HUMAN olfactory receptor, family 56, subfamily B, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184) ATCTCTCAAAATCTCCAATAG 0.433000 OR52N1 79473 broad.mit.edu 37 11 5809861 5809861 + Nonsense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:5809861A>T uc010qzo.1 - 1 186 c.186T>A c.(184-186)TAT>TAA p.Y62* TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CAAGGAAGACATACATAGGTC 0.453000 APBB1 322 broad.mit.edu 37 11 6416828 6416828 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:6416828C>T uc001mdb.1 - 14 2169 c.2069G>A c.(2068-2070)CGC>CAC p.R690H APBB1_uc001mcz.1_Missense_Mutation_p.R309H|APBB1_uc001mdd.3_Missense_Mutation_p.R468H|APBB1_uc001mda.2_Missense_Mutation_p.R215H|APBB1_uc001mdc.1_Missense_Mutation_p.R688H|APBB1_uc001mcy.1_3'UTR NM_001164 NP_001155 O00213 APBB1_HUMAN amyloid beta A4 precursor protein-binding, 690 PID 2. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(2) 2 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) AACACCCCTGCGGACAGTCCA 0.652000 NLRP14 338323 broad.mit.edu 37 11 7060049 7060049 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:7060049A>C uc001mfb.1 + 2 555 c.232A>C c.(232-234)ATC>CTC p.I78L NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 78 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTCTCTCAAAATCTTTGGCAA 0.493000 GALNTL4 374378 broad.mit.edu 37 11 11394149 11394149 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:11394149A>G uc001mjo.2 - 6 1426 c.1005T>C c.(1003-1005)ATT>ATC p.I335I NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 335 Lumenal (Potential).|Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) GCCGGTCCACAATGAAGCAGC 0.602000 ANO5 203859 broad.mit.edu 37 11 22248854 22248854 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:22248854G>A uc001mqi.2 + 7 687 c.370G>A c.(370-372)GAA>AAA p.E124K ANO5_uc001mqj.2_Missense_Mutation_p.E123K NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 124 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GCAGGACTCGGAAGATGGAAG 0.353000 SLC17A6 57084 broad.mit.edu 37 11 22381048 22381048 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:22381048T>G uc001mqk.2 + 4 961 c.548T>G c.(547-549)GTC>GGC p.V183G NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 183 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 GTCATCTTTGTCAGAATACTG 0.408000 GAS2 2620 broad.mit.edu 37 11 22833429 22833429 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:22833429G>A uc009yie.2 + 8 1115 c.809G>A c.(808-810)CGA>CAA p.R270Q GAS2_uc001mqm.2_Missense_Mutation_p.R270Q|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.R270Q NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 270 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 GACCCCTGCCGAATGCTGCAG 0.463000 ANO3 63982 broad.mit.edu 37 11 26620487 26620487 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:26620487A>G uc001mqt.3 + 16 1758 c.1613A>G c.(1612-1614)CAG>CGG p.Q538R ANO3_uc010rdr.1_Missense_Mutation_p.Q522R|ANO3_uc010rds.1_Missense_Mutation_p.Q377R|ANO3_uc010rdt.1_Missense_Mutation_p.Q392R NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 538 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAACCACATCAGCCTTCCTCA 0.403000 OR4C13 283092 broad.mit.edu 37 11 49974148 49974148 + Nonsense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:49974148C>A uc010rhz.1 + 1 174 c.174C>A c.(172-174)TAC>TAA p.Y58* NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CCCCCATGTACTTTTTCCTGG 0.423000 OR4A5 81318 broad.mit.edu 37 11 51412114 51412114 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:51412114A>C uc001nhi.1 - 1 282 c.282T>G c.(280-282)GGT>GGG p.G94G NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) GGCCCATGCAACCTTGGAAGG 0.448000 OR5M8 219484 broad.mit.edu 37 11 56258219 56258219 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:56258219G>C uc001nix.1 - 1 628 c.628C>G c.(628-630)CTC>GTC p.L210V NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) ATGATGAAGAGAGAAAAAGAA 0.433000 APLNR 187 broad.mit.edu 37 11 57004241 57004241 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:57004241C>A uc001njo.2 - 1 687 c.238G>T c.(238-240)GTG>TTG p.V80L APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 80 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 GGCAGCGTCACCACGAAGGTC 0.587000 SYTL2 54843 broad.mit.edu 37 11 85445318 85445318 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:85445318G>A uc010rth.1 - 6 1327 c.1051C>T c.(1051-1053)CGG>TGG p.R351W SYTL2_uc010rtg.1_Missense_Mutation_p.R352W|SYTL2_uc010rti.1_Missense_Mutation_p.R351W|SYTL2_uc010rtj.1_Missense_Mutation_p.R303W|SYTL2_uc001pbf.3_Missense_Mutation_p.R351W|SYTL2_uc010rtf.1_Missense_Mutation_p.R209W NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 351 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCTACTTCCCGACCATGGATT 0.458000 FAT3 120114 broad.mit.edu 37 11 92531644 92531644 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:92531644A>C uc001pdj.3 + 9 5482 c.5465A>C c.(5464-5466)AAG>ACG p.K1822T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1822 Cadherin 16.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACAGCAAAAAAGTTTTTCACG 0.473000 TCGA Ovarian(4;0.039) CASP1 834 broad.mit.edu 37 11 104900547 104900547 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:104900547G>A uc010rve.1 - 6 724 c.707C>T c.(706-708)TCT>TTT p.S236F CASP1_uc001pig.2_Missense_Mutation_p.S143F|CASP1_uc001pik.2_Missense_Mutation_p.S199F|CASP1_uc010rvf.1_Missense_Mutation_p.S143F|CASP1_uc010rvg.1_Missense_Mutation_p.S215F|CASP1_uc010rvh.1_Missense_Mutation_p.S143F|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.S236F|CASP1_uc009yxi.2_Missense_Mutation_p.S215F|CASP1_uc010rvj.1_Missense_Mutation_p.S236F|CASP1_uc009yxj.2_Missense_Mutation_p.S81F|CASP1_uc010rvk.1_Missense_Mutation_p.S197F NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 236 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) AATACCATGAGACATGAACAC 0.463000 KIAA1826 84437 broad.mit.edu 37 11 105881326 105881326 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:105881326G>C uc001piy.2 - 2 492 c.319C>G c.(319-321)CTC>GTC p.L107V KIAA1826_uc001piz.2_Missense_Mutation_p.L107V NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 107 nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) TCTTCAGTGAGAGAGTCATCC 0.443000 CUL5 8065 broad.mit.edu 37 11 107925631 107925631 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:107925631A>T uc001pjv.2 + 7 1396 c.729A>T c.(727-729)AAA>AAT p.K243N CUL5_uc001pju.2_RNA NM_003478 NP_003469 Q93034 CUL5_HUMAN Vasopressin-activated calcium-mobilizing 243 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding ovary(1) 1 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) AAGAAGAAAAACGAGCACTAC 0.313000 EXPH5 23086 broad.mit.edu 37 11 108380425 108380425 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:108380425T>C uc001pkk.2 - 6 5920 c.5809A>G c.(5809-5811)AGC>GGC p.S1937G EXPH5_uc010rvy.1_Missense_Mutation_p.S1749G|EXPH5_uc010rvz.1_Missense_Mutation_p.S1781G|EXPH5_uc010rwa.1_Missense_Mutation_p.S1861G NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1937 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GAATTTGAGCTTAATGACTCT 0.438000 ALG9 79796 broad.mit.edu 37 11 111724443 111724443 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:111724443C>T uc001pmb.2 - 8 817 c.718G>A c.(718-720)GAT>AAT p.D240N ALG9_uc001ply.2_Missense_Mutation_p.D69N|ALG9_uc001plz.2_Missense_Mutation_p.D69N|ALG9_uc010rwm.1_Missense_Mutation_p.D240N|ALG9_uc010rwn.1_Missense_Mutation_p.D194N|ALG9_uc010rwo.1_Missense_Mutation_p.D68N|ALG9_uc009yyh.1_Missense_Mutation_p.D135N NM_001077690 NP_001071158 Q9H6U8 ALG9_HUMAN asparagine-linked glycosylation 9 protein 240 Cytoplasmic (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity large_intestine(1)|ovary(1) 2 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) ACCAGCAAATCAAAGGCAATG 0.398000 CADM1 23705 broad.mit.edu 37 11 115109343 115109343 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:115109343T>G uc001ppi.3 - 3 430 c.301A>C c.(301-303)AAT>CAT p.N101H CADM1_uc001ppf.3_Missense_Mutation_p.N101H|CADM1_uc001ppk.3_Missense_Mutation_p.N101H|CADM1_uc001ppj.3_Missense_Mutation_p.N101H|CADM1_uc001ppl.2_Missense_Mutation_p.N101H NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 101 Ig-like V-type.|Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) CTAGAAAAATTCAGCAACTGA 0.393000 AMICA1 120425 broad.mit.edu 37 11 118083275 118083275 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:118083275A>G uc001psk.2 - 3 219 c.45T>C c.(43-45)GAT>GAC p.D15D AMICA1_uc001psh.2_5'UTR|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Silent_p.D5D|AMICA1_uc001psj.2_Silent_p.D15D|AMICA1_uc010rxw.1_5'UTR|AMICA1_uc010rxx.1_Silent_p.D15D|AMICA1_uc001psl.1_Intron NM_001098526 NP_001091996 Q86YT9 JAML1_HUMAN adhesion molecule, interacts with CXADR antigen 15 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response cell junction|integral to membrane ovary(1) 1 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CCAAGGAATAATCTATAGAAG 0.438000 MLL 4297 broad.mit.edu 37 11 118375019 118375019 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:118375019C>T uc001pta.2 + 27 8426 c.8403C>T c.(8401-8403)CTC>CTT p.L2801L MLL_uc001ptb.2_Silent_p.L2804L NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2801 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AAGCTCAGCTCAGCTCATTGG 0.448000 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL POU2F3 25833 broad.mit.edu 37 11 120169080 120169080 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:120169080T>A uc001pxc.2 + 4 341 c.239T>A c.(238-240)CTA>CAA p.L80Q POU2F3_uc010rzk.1_Silent_p.A18A|POU2F3_uc010rzl.1_Missense_Mutation_p.L10Q NM_014352 NP_055167 Q9UKI9 PO2F3_HUMAN POU transcription factor 80 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding ovary(1)|skin(1) 2 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) ATGTCTGGGCTAAATGCCAGC 0.527000 C11orf63 79864 broad.mit.edu 37 11 122817501 122817501 + Splice_Site SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:122817501G>C uc001pym.2 + 6 2226 c.1929_splice c.e6+1 p.K643_splice NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) CAGCAGTAAGGTAATAAAAGC 0.378000 OR4D5 219875 broad.mit.edu 37 11 123811129 123811129 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:123811129A>C uc001pzk.1 + 1 806 c.806A>C c.(805-807)AAG>ACG p.K269T NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCCATGGACAAGGCCGTCTCT 0.498000 OR8B2 26595 broad.mit.edu 37 11 124252930 124252930 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:124252930A>C uc010sai.1 - 1 310 c.310T>G c.(310-312)TTT>GTT p.F104V NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AAAAAGAGAAAGAAAAACAGC 0.388000 OR8B4 283162 broad.mit.edu 37 11 124294715 124294715 + Nonsense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr11:124294715G>C uc010sak.1 - 1 53 c.53C>G c.(52-54)TCA>TGA p.S18* NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGGCTGTTCTGATAATCCCAC 0.478000 B4GALNT3 283358 broad.mit.edu 37 12 657427 657427 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:657427A>T uc001qii.1 + 9 817 c.817A>T c.(817-819)ACC>TCC p.T273S B4GALNT3_uc001qij.1_Missense_Mutation_p.T175S NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 273 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) AGCCAAGTTCACCATCATTGA 0.597000 VWF 7450 broad.mit.edu 37 12 6080778 6080778 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:6080778G>T uc001qnn.1 - 44 7785 c.7535C>A c.(7534-7536)TCT>TAT p.S2512Y VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2512 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) CTTCCAGGAAGACTGGGAGTC 0.622000 C1S 716 broad.mit.edu 37 12 7177878 7177878 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:7177878C>G uc001qsj.2 + 15 2709 c.1990C>G c.(1990-1992)CTC>GTC p.L664V C1S_uc001qsk.2_Missense_Mutation_p.L664V|C1S_uc001qsl.2_Missense_Mutation_p.L664V|C1S_uc009zfr.2_Missense_Mutation_p.L497V|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 664 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GACCTATGGGCTCTACACACG 0.537000 AICDA 57379 broad.mit.edu 37 12 8758006 8758006 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:8758006C>T uc001qur.2 - 3 311 c.232G>A c.(232-234)GTC>ATC p.V78I AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron NM_020661 NP_065712 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 78 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung SC(5;0.184) AACCAGGTGACGCGGTAGCAG 0.617000 Immune_Deficiency_with_Hyper-IgM A2M 2 broad.mit.edu 37 12 9254148 9254148 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:9254148G>A uc001qvk.1 - 12 1502 c.1389C>T c.(1387-1389)CCC>CCT p.P463P A2M_uc009zgk.1_Silent_p.P313P NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 463 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CATGAGACATGGGCTCAAGGT 0.507000 KLRF1 51348 broad.mit.edu 37 12 9994946 9994946 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:9994946A>C uc010sgw.1 + 6 565 c.501A>C c.(499-501)CAA>CAC p.Q167H KLRF1_uc009zgw.2_Missense_Mutation_p.Q118H|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 168 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 ACCTAAGACAATTAAACTACG 0.333000 TAS2R7 50837 broad.mit.edu 37 12 10954529 10954529 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:10954529C>T uc001qyv.2 - 1 698 c.641G>A c.(640-642)CGA>CAA p.R214Q NM_023919 NP_076408 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 214 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 GAGCTGCATTCGCCTGATATG 0.512000 DDX47 51202 broad.mit.edu 37 12 12967079 12967079 + Silent SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:12967079G>C uc001rav.2 + 5 700 c.102G>C c.(100-102)GTG>GTC p.V34V DDX47_uc009zhw.1_Silent_p.V34V|DDX47_uc001rax.2_Silent_p.V34V|DDX47_uc001ray.2_Silent_p.V34V|DDX47_uc010shn.1_Silent_p.V34V NM_016355 NP_057439 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 34 Q motif. nucleolus|nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding 0 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) TGACAGATGTGTTGTGTGAAG 0.453000 C12orf69 440087 broad.mit.edu 37 12 14958991 14958991 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:14958991T>G uc001rck.1 - 2 697 c.624A>C c.(622-624)AAA>AAC p.K208N WBP11_uc001rci.2_5'Flank|C12orf60_uc001rcj.3_Intron NM_001013698 NP_001013720 A2RU48 CL069_HUMAN hypothetical protein LOC440087 208 integral to membrane 0 CATGATTATATTTTTCTGAGG 0.408000 H1FNT 341567 broad.mit.edu 37 12 48723523 48723523 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:48723523C>T uc001rrm.2 + 1 761 c.449C>T c.(448-450)GCG>GTG p.A150V NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 150 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 ACCCCAGCCGCGCCCCGGAGC 0.701000 KRT5 3852 broad.mit.edu 37 12 52908759 52908759 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:52908759G>A uc001san.2 - 9 1903 c.1740C>T c.(1738-1740)ACC>ACT p.T580T NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 580 Tail.|Ser-rich. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGAGGAGGTGGTGGAGACAA 0.607000 KRT78 196374 broad.mit.edu 37 12 53233611 53233611 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:53233611G>A uc001sbc.1 - 7 1269 c.1205C>T c.(1204-1206)ACG>ATG p.T402M NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN keratin 5b 402 Coil 2.|Rod. keratin filament protein binding|structural molecule activity ovary(2) 2 GGAAAGCTTCGTGCTCGTCAG 0.612000 NCKAP1L 3071 broad.mit.edu 37 12 54914575 54914575 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:54914575T>G uc001sgc.3 + 17 1802 c.1723T>G c.(1723-1725)TTT>GTT p.F575V NCKAP1L_uc010sox.1_Missense_Mutation_p.F117V|NCKAP1L_uc010soy.1_Missense_Mutation_p.F525V NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 575 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TTGTGCTCACTTTGTCCACTG 0.463000 PTPRB 5787 broad.mit.edu 37 12 70965039 70965039 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:70965039C>T uc001swb.3 - 11 2513 c.2483G>A c.(2482-2484)CGC>CAC p.R828H PTPRB_uc010sto.1_Missense_Mutation_p.R828H|PTPRB_uc010stp.1_Missense_Mutation_p.R738H|PTPRB_uc001swc.3_Missense_Mutation_p.R1046H|PTPRB_uc001swa.3_Missense_Mutation_p.R958H|PTPRB_uc001swd.3_Missense_Mutation_p.R1045H|PTPRB_uc009zrr.1_Missense_Mutation_p.R925H NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 828 Fibronectin type-III 10.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GCTCCTGTTGCGCAATGTTAG 0.413000 NDUFA12 55967 broad.mit.edu 37 12 95397430 95397430 + Silent SNP G G C rs11554615 TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:95397430G>C uc001tdl.2 - 1 82 c.27C>G c.(25-27)CGC>CGG p.R9R NM_018838 NP_061326 Q9UI09 NDUAC_HUMAN 13kDa differentiation-associated protein 9 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) GCTGCAGCCCGCGTTTCAGGA 0.652000 UTP20 27340 broad.mit.edu 37 12 101759288 101759288 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:101759288T>G uc001tia.1 + 46 6166 c.6010T>G c.(6010-6012)TTA>GTA p.L2004V NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2004 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 TCATGAAACTTTACGCCGAAT 0.373000 ACACB 32 broad.mit.edu 37 12 109637357 109637357 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:109637357G>A uc001tob.2 + 18 2897 c.2778G>A c.(2776-2778)GAG>GAA p.E926E ACACB_uc001toc.2_Silent_p.E926E NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 926 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) CTGAGATGGAGGTGACTGCAG 0.587000 ERP29 10961 broad.mit.edu 37 12 112460298 112460298 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:112460298T>G uc001ttk.1 + 3 746 c.628T>G c.(628-630)TTA>GTA p.L210V ERP29_uc001ttl.1_3'UTR NM_006817 NP_006808 P30040 ERP29_HUMAN endoplasmic reticulum protein 29 isoform 1 210 intracellular protein transport|protein folding|protein secretion endoplasmic reticulum lumen|melanosome protein disulfide isomerase activity 0 GGGGAAGATCTTAGACCAAGG 0.532000 C12orf51 283450 broad.mit.edu 37 12 112630954 112630954 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:112630954G>A uc009zwc.2 - 51 7749 c.7731C>T c.(7729-7731)TCC>TCT p.S2577S NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 CTTTGGATTCGGAAATTGGGA 0.473000 TPCN1 53373 broad.mit.edu 37 12 113705654 113705654 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:113705654G>A uc001tuw.2 + 5 718 c.421G>A c.(421-423)GCC>ACC p.A141T TPCN1_uc001tux.2_Missense_Mutation_p.A213T|TPCN1_uc010syt.1_Missense_Mutation_p.A73T NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 141 Helical; Name=S2 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 TCAGGTCCACGCCACCCTGGA 0.612000 SBNO1 55206 broad.mit.edu 37 12 123812541 123812541 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr12:123812541A>C uc010tap.1 - 10 1330 c.1330T>G c.(1330-1332)TTA>GTA p.L444V SBNO1_uc010tao.1_Missense_Mutation_p.L443V|SBNO1_uc010taq.1_Intron|SBNO1_uc001uet.2_Missense_Mutation_p.L444V|SBNO1_uc001ueu.2_Missense_Mutation_p.L443V|SBNO1_uc001uev.2_Missense_Mutation_p.L442V|SBNO1_uc009zxy.1_Missense_Mutation_p.L409V NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 444 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ACAGGACATAAGTTTTTGGCT 0.368000 SACS 26278 broad.mit.edu 37 13 23905608 23905608 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:23905608A>C uc001uon.2 - 10 12996 c.12407T>G c.(12406-12408)CTT>CGT p.L4136R SACS_uc001uoo.2_Missense_Mutation_p.L3989R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4136 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TAAACTGTCAAGTTTCTCACC 0.383000 ATP12A 479 broad.mit.edu 37 13 25262594 25262594 + Silent SNP C C T rs150504279 by1000genomes TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:25262594C>T uc001upp.2 + 4 553 c.366C>T c.(364-366)GGC>GGT p.G122G ATP12A_uc010aaa.2_Silent_p.G122G NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 122 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TGTGGGTGGGCGCCTTTCTCT 0.572000 RXFP2 122042 broad.mit.edu 37 13 32376379 32376379 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:32376379A>C uc001utt.2 + 18 2173 c.2102A>C c.(2101-2103)AAG>ACG p.K701T RXFP2_uc010aba.2_Missense_Mutation_p.K660T NM_130806 NP_570718 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 701 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TTTAAGGACAAGTTGAAACAG 0.363000 STARD13 90627 broad.mit.edu 37 13 33859652 33859652 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:33859652T>G uc001uuw.2 - 1 250 c.124A>C c.(124-126)AGC>CGC p.S42R STARD13_uc001uux.2_Intron|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Intron NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 42 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AGAATCCGGCTCATCCTGTAA 0.498000 CCDC70 83446 broad.mit.edu 37 13 52439824 52439824 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:52439824G>A uc001vfu.3 + 2 606 c.310G>A c.(310-312)GAA>AAA p.E104K uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 104 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) CTGGAAAGAGGAAAAATCCTT 0.473000 PCDH17 27253 broad.mit.edu 37 13 58299162 58299162 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:58299162T>A uc001vhq.1 + 4 4106 c.3214T>A c.(3214-3216)TTG>ATG p.L1072M PCDH17_uc010aec.1_Missense_Mutation_p.L1071M|PCDH17_uc001vhr.1_Missense_Mutation_p.L161M NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 1072 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGTCAGTACTTGCCCACTGA 0.532000 LMO7 4008 broad.mit.edu 37 13 76427387 76427387 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:76427387G>A uc001vjv.2 + 25 4585 c.3825G>A c.(3823-3825)CGG>CGA p.R1275R LMO7_uc010thv.1_Silent_p.R1226R|LMO7_uc010thw.1_Silent_p.R1152R NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1560 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CCTACATGCGGAACCCCTCCT 0.602000 EDNRB 1910 broad.mit.edu 37 13 78492700 78492700 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:78492700C>T uc001vko.2 - 1 267 c.9G>A c.(7-9)CCG>CCA p.P3P uc001vks.2_5'Flank|EDNRB_uc001vkq.1_Silent_p.P3P|EDNRB_uc010aez.1_Silent_p.P3P|EDNRB_uc001vkp.1_Silent_p.P86P|EDNRB_uc010afa.1_Silent_p.P3P NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 3 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) GACTTGGAGGCGGCTGCATGC 0.642000 OREG0022452 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RBM26 64062 broad.mit.edu 37 13 79940817 79940817 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:79940817G>A uc001vkz.2 - 7 1100 c.1086C>T c.(1084-1086)CCC>CCT p.P362P RBM26_uc001vky.2_Silent_p.P362P|RBM26_uc001vla.2_Silent_p.P362P|RBM26_uc001vkx.2_Silent_p.P74P|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 362 Pro-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTGGTACTGGGGGCCTGAGAT 0.527000 SLITRK1 114798 broad.mit.edu 37 13 84454576 84454576 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:84454576T>G uc001vlk.2 - 1 1953 c.1067A>C c.(1066-1068)AAG>ACG p.K356T NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 356 Extracellular (Potential).|LRRNT 2. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GCAGTTCATCTTTAAACCCGA 0.537000 SLITRK5 26050 broad.mit.edu 37 13 88329798 88329798 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:88329798G>A uc001vln.2 + 2 2374 c.2155G>A c.(2155-2157)GGC>AGC p.G719S SLITRK5_uc010tic.1_Missense_Mutation_p.G478S NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 719 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CGTGTACGGCGGCGGCGGCGG 0.647000 UGGT2 55757 broad.mit.edu 37 13 96579548 96579548 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:96579548C>T uc001vmt.2 - 18 2190 c.2020G>A c.(2020-2022)GAT>AAT p.D674N NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 674 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TTATTCCTATCCATTAGAAAA 0.299000 TFDP1 7027 broad.mit.edu 37 13 114290350 114290350 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr13:114290350G>A uc001vtw.2 + 9 958 c.746G>A c.(745-747)CGG>CAG p.R249Q TFDP1_uc010tkd.1_Missense_Mutation_p.R154Q|TFDP1_uc010tke.1_Missense_Mutation_p.R154Q|TFDP1_uc001vty.3_Missense_Mutation_p.R249Q|TFDP1_uc001vtx.2_Missense_Mutation_p.R129Q NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 249 Dimerization (Potential).|Enhances binding of RB protein to E2F. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) CAGGCCAGCCGGCCACCGCCA 0.552000 TSP Lung(29;0.18) OR4K13 390433 broad.mit.edu 37 14 20502077 20502077 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:20502077G>T uc010tkz.1 - 1 841 c.841C>A c.(841-843)CTC>ATC p.L281I NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GGATTTAAGAGAGGTGTGAAA 0.333000 RGS6 9628 broad.mit.edu 37 14 72926380 72926380 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:72926380A>C uc001xna.3 + 6 906 c.383A>C c.(382-384)AAC>ACC p.N128T RGS6_uc010ttn.1_Missense_Mutation_p.N128T|RGS6_uc001xmx.3_Missense_Mutation_p.N128T|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.N128T|RGS6_uc010ttp.1_Missense_Mutation_p.N59T|RGS6_uc001xmz.1_5'UTR|RGS6_uc010arg.2_RNA NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 128 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) GAACCTGAAAACACTGACTAT 0.557000 KIAA0317 9870 broad.mit.edu 37 14 75139568 75139568 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:75139568G>C uc001xqb.2 - 11 1893 c.1388C>G c.(1387-1389)ACC>AGC p.T463S KIAA0317_uc010tut.1_Missense_Mutation_p.T302S|KIAA0317_uc001xqc.2_Missense_Mutation_p.T463S NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 463 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) GACCTTCAGGGTGACTTTGGA 0.453000 POMT2 29954 broad.mit.edu 37 14 77778318 77778318 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:77778318A>G uc001xti.2 - 2 508 c.307T>C c.(307-309)TTT>CTT p.F103L POMT2_uc010asr.2_Intron NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 103 Helical; (Potential). protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) TGCACATCAAAGAAAAATGTA 0.423000 KIAA1409 57578 broad.mit.edu 37 14 94112973 94112973 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:94112973T>A uc001ybv.1 + 34 5799 c.5716T>A c.(5716-5718)TTT>ATT p.F1906I KIAA1409_uc001ybs.1_Missense_Mutation_p.F1884I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2061 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CAGTACTACCTTTTCTAATCA 0.403000 CLMN 79789 broad.mit.edu 37 14 95669187 95669187 + Missense_Mutation SNP C C A rs150763369 byFrequency TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:95669187C>A uc001yef.2 - 9 2615 c.2499G>T c.(2497-2499)ATG>ATT p.M833I NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 833 integral to membrane actin binding 0 Epithelial(152;0.193) GATGGCTGTCCATGGGGTCAT 0.557000 DIO3 1735 broad.mit.edu 37 14 102028220 102028220 + Silent SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:102028220G>T uc010txq.1 + 1 533 c.309G>T c.(307-309)GCG>GCT p.A103A DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 103 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(303;0.185) TCAAGCAGGCGCACGAGGGCG 0.657000 AHNAK2 113146 broad.mit.edu 37 14 105415965 105415965 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr14:105415965T>G uc010axc.1 - 7 5943 c.5823A>C c.(5821-5823)GAA>GAC p.E1941D AHNAK2_uc001ypx.2_Missense_Mutation_p.E1841D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1941 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCTGTCACTTCCGCCTTGG 0.607000 C15orf55 256646 broad.mit.edu 37 15 34649257 34649257 + Silent SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr15:34649257T>G uc001zif.2 + 7 3119 c.2964T>G c.(2962-2964)ACT>ACG p.T988T C15orf55_uc010ucc.1_Silent_p.T1016T|C15orf55_uc010ucd.1_Silent_p.T1006T NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 988 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CGAGAGAAACTTCTGTTAGTA 0.473000 T BRD3|BRD4 lethal midline carcinoma TLN2 83660 broad.mit.edu 37 15 62945507 62945507 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr15:62945507G>A uc002alb.3 + 4 511 c.511G>A c.(511-513)GAT>AAT p.D171N NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 171 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GCACACAGATGATGACCGTAA 0.473000 HERC1 8925 broad.mit.edu 37 15 63926976 63926976 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr15:63926976G>A uc002amp.2 - 66 12674 c.12526C>T c.(12526-12528)CTT>TTT p.L4176F NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4176 RCC1 11. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CTCTCTGGAAGTTTTTTGTTA 0.423000 WDR90 197335 broad.mit.edu 37 16 705073 705073 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:705073G>A uc002cii.1 + 14 1536 c.1482G>A c.(1480-1482)GAG>GAA p.E494E WDR90_uc002cig.1_Silent_p.E494E|WDR90_uc002cih.1_Silent_p.E495E|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_5'UTR|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 494 WD 2. ovary(1) 1 Hepatocellular(780;0.0218) TCGGTGGCGAGGTGGTCGTTC 0.642000 ZG16B 124220 broad.mit.edu 37 16 2882108 2882108 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:2882108C>T uc002cru.2 + 4 651 c.575C>T c.(574-576)ACT>ATT p.T192I NM_145252 NP_660295 Q96DA0 ZG16B_HUMAN zymogen granule protein 16 homolog B precursor 192 extracellular region sugar binding ovary(1) 1 GAGCCGACCACTGAGCCACCA 0.562000 GRIN2A 2903 broad.mit.edu 37 16 9934899 9934899 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:9934899A>G uc002czo.3 - 6 1939 c.1391T>C c.(1390-1392)CTG>CCG p.L464P GRIN2A_uc010uym.1_Missense_Mutation_p.L464P|GRIN2A_uc010uyn.1_Missense_Mutation_p.L307P|GRIN2A_uc002czr.3_Missense_Mutation_p.L464P NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 464 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGCTTCTTCAGAATATCAAT 0.353000 USP31 57478 broad.mit.edu 37 16 23080245 23080245 + Missense_Mutation SNP G G C rs151219972 by1000genomes TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:23080245G>C uc002dll.2 - 16 3181 c.3181C>G c.(3181-3183)CCT>GCT p.P1061A USP31_uc002dlk.2_Missense_Mutation_p.P333A|USP31_uc010vca.1_Missense_Mutation_p.P364A|USP31_uc010bxm.2_Missense_Mutation_p.P349A NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1061 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) ACAGGAAGAGGAGAAGAAGGG 0.557000 NSMCE1 197370 broad.mit.edu 37 16 27238064 27238064 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:27238064T>C uc002doi.1 - 6 675 c.577A>G c.(577-579)ATC>GTC p.I193V NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 193 NSE1-type. DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 CTGTGACAGATATTGCAGATC 0.627000 CYLD 1540 broad.mit.edu 37 16 50825577 50825577 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:50825577C>G uc002egp.1 + 15 2632 c.2217C>G c.(2215-2217)ATC>ATG p.I739M CYLD_uc010cbs.1_Missense_Mutation_p.I736M|CYLD_uc002egq.1_Missense_Mutation_p.I736M|CYLD_uc002egr.1_Missense_Mutation_p.I736M NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 739 cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) GGTCTTTTATCAACAGTAACC 0.348000 Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial GPR97 222487 broad.mit.edu 37 16 57707259 57707259 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:57707259A>C uc002emh.2 + 2 188 c.85A>C c.(85-87)AGA>CGA p.R29R GPR97_uc010cdc.2_Silent_p.R29R|GPR97_uc010vhv.1_5'UTR|GPR97_uc010cdd.2_RNA NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 29 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 CGAAGGGCCAAGAAACACCTG 0.443000 C16orf46 123775 broad.mit.edu 37 16 81095607 81095607 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:81095607T>C uc002fgc.3 - 4 606 c.347A>G c.(346-348)AAG>AGG p.K116R C16orf46_uc010chf.2_Missense_Mutation_p.K116R|C16orf46_uc010vno.1_5'UTR NM_152337 NP_689550 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 isoform 2 116 0 AGTAGGAGGCTTGGTCTGGAG 0.617000 SNAI3 333929 broad.mit.edu 37 16 88748082 88748082 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr16:88748082C>T uc002flj.2 - 2 185 c.117G>A c.(115-117)GTG>GTA p.V39V MGC23284_uc002fli.3_Intron NM_178310 NP_840101 Q3KNW1 SNAI3_HUMAN snail homolog 3 39 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.048) GGAGGAGGGGCACCACCAGCC 0.632000 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 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) GLP2R 9340 broad.mit.edu 37 17 9792877 9792877 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:9792877C>A uc002gmd.1 + 13 1517 c.1517C>A c.(1516-1518)GCC>GAC p.A506D NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 506 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) CTACATCTAGCCATGCGAGGT 0.622000 MYH1 4619 broad.mit.edu 37 17 10415739 10415739 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:10415739G>A uc002gmo.2 - 12 1227 c.1133C>T c.(1132-1134)CCA>CTA p.P378L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 378 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 AGTGCCATCTGGCTCAGCTTG 0.423000 MYO15A 51168 broad.mit.edu 37 17 18044113 18044113 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:18044113G>A uc010vxh.1 + 20 5711 c.5373G>A c.(5371-5373)TTG>TTA p.L1791L NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 1791 Myosin head-like. 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) GCAACCCCTTGTTCATGCGTT 0.502000 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GJD3 125111 broad.mit.edu 37 17 38520012 38520012 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:38520012G>A uc010cwz.2 - 1 934 c.56C>T c.(55-57)CCG>CTG p.P19L uc010cxa.1_Missense_Mutation_p.R275Q NM_152219 NP_689343 Q8N144 CXD3_HUMAN gap junction protein, delta 3, 31.9kDa 19 Cytoplasmic (Potential). cell communication|gap junction assembly cell surface|connexon complex|integral to plasma membrane protein binding 0 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) GCCCACGAGCGGCGACTGCAG 0.701000 MLX 6945 broad.mit.edu 37 17 40721590 40721590 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:40721590C>T uc002iag.2 + 6 669 c.604C>T c.(604-606)CGC>TGC p.R202C MLX_uc002iaf.2_Missense_Mutation_p.R148C|MLX_uc002iah.2_Missense_Mutation_p.R118C NM_170607 NP_733752 Q9UH92 MLX_HUMAN transcription factor-like protein 4 isoform 202 energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process cytoplasm|nucleus DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148) BRCA - Breast invasive adenocarcinoma(366;0.129) GTCCACGTTACGCAAGGATGT 0.498000 MED13 9969 broad.mit.edu 37 17 60033154 60033154 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:60033154T>G uc002izo.2 - 25 5746 c.5669A>C c.(5668-5670)AAA>ACA p.K1890T NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1890 androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 TTTGAGCCTTTTACTTAGAGA 0.403000 BPTF 2186 broad.mit.edu 37 17 65888127 65888127 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:65888127A>G uc002jgf.2 + 5 2093 c.2032A>G c.(2032-2034)AAA>GAA p.K678E BPTF_uc002jge.2_Missense_Mutation_p.K804E|BPTF_uc010wqm.1_Missense_Mutation_p.K741E NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 804 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TGAAGCAAATAAATTATTTAA 0.408000 NUP85 79902 broad.mit.edu 37 17 73231771 73231771 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:73231771C>T uc002jng.1 + 19 2228 c.1968C>T c.(1966-1968)TCC>TCT p.S656S NUP85_uc010dgd.1_Silent_p.S611S|NUP85_uc010wrv.1_Silent_p.S610S|NUP85_uc002jnh.1_Silent_p.S259S NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 656 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TGGAAGGTTCCTGAGAACTGC 0.398000 SYNGR2 9144 broad.mit.edu 37 17 76167882 76167882 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr17:76167882T>A uc002juu.1 + 4 567 c.540T>A c.(538-540)AAT>AAA p.N180K SYNGR2_uc002jut.2_Missense_Mutation_p.I210N|SYNGR2_uc002juv.1_Missense_Mutation_p.L134I|SYNGR2_uc010dhi.1_RNA NM_004710 NP_004701 O43760 SNG2_HUMAN synaptogyrin 2 180 integral to plasma membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) TCATCCAGAATTACGTTGACC 0.627000 CLUL1 27098 broad.mit.edu 37 18 633357 633357 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:633357G>A uc002kkp.2 + 6 1061 c.916G>A c.(916-918)GGG>AGG p.G306R CLUL1_uc010wys.1_Missense_Mutation_p.G358R|CLUL1_uc002kkq.2_Missense_Mutation_p.G306R NM_014410 NP_055225 Q15846 CLUL1_HUMAN clusterin-like 1 (retinal) precursor 306 cell death extracellular region ovary(2) 2 AGGACTGTGTGGGGAACTTGA 0.403000 ANKRD12 23253 broad.mit.edu 37 18 9256587 9256587 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:9256587G>A uc002knv.2 + 9 3579 c.3322G>A c.(3322-3324)GAA>AAA p.E1108K ANKRD12_uc002knw.2_Missense_Mutation_p.E1085K|ANKRD12_uc002knx.2_Missense_Mutation_p.E1085K|ANKRD12_uc010dkx.1_Missense_Mutation_p.E815K NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 1108 nucleus ovary(2)|central_nervous_system(1) 3 AAAAGAAAAGGAACGGTTGAG 0.308000 SPIRE1 56907 broad.mit.edu 37 18 12463377 12463377 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:12463377C>T uc002kre.2 - 12 1658 c.1611G>A c.(1609-1611)CCG>CCA p.P537P SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Silent_p.P403P|SPIRE1_uc010wzx.1_Silent_p.P326P|SPIRE1_uc010wzy.1_Silent_p.P523P NM_001128626 NP_001122098 Q08AE8 SPIR1_HUMAN spire homolog 1 isoform a 537 cytoskeleton|perinuclear region of cytoplasm actin binding 0 GCCTGGAAGGCGGCAGGAACT 0.488000 CEP192 55125 broad.mit.edu 37 18 13059133 13059133 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:13059133G>A uc010xac.1 + 21 4390 c.4310G>A c.(4309-4311)AGA>AAA p.R1437K CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.R962K|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.R1178K NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 1437 ovary(4)|pancreas(1) 5 GCCATCATAAGACCTCATGCC 0.383000 TTR 7276 broad.mit.edu 37 18 29172975 29172975 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:29172975G>T uc002kwx.3 + 2 322 c.186G>T c.(184-186)GAG>GAT p.E62D NM_000371 NP_000362 P02766 TTHY_HUMAN transthyretin precursor 62 transport cytoplasm hormone activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(10;0.00523) Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279) ACACCTGGGAGCCATTTGCCT 0.522000 FHOD3 80206 broad.mit.edu 37 18 34205506 34205506 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:34205506C>T uc002kzt.1 + 10 1087 c.990C>T c.(988-990)ACC>ACT p.T330T FHOD3_uc002kzr.1_Silent_p.T330T|FHOD3_uc002kzs.1_Silent_p.T330T|FHOD3_uc002kzu.1_Silent_p.T155T|FHOD3_uc010dmz.1_Silent_p.T83T NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 330 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GCGATGAGACCACGGAGCCAC 0.667000 FHOD3 80206 broad.mit.edu 37 18 34289206 34289206 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:34289206G>A uc002kzt.1 + 14 1906 c.1809G>A c.(1807-1809)CCG>CCA p.P603P FHOD3_uc002kzr.1_Silent_p.P603P|FHOD3_uc002kzs.1_Silent_p.P620P|FHOD3_uc010dmz.1_Silent_p.P335P|FHOD3_uc010dna.1_5'UTR NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 603 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGCAAGAGCCGGAAGAAAGAG 0.607000 CDH20 28316 broad.mit.edu 37 18 59157803 59157803 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:59157803G>T uc010dps.1 + 1 29 c.17G>T c.(16-18)AGA>ATA p.R6I CDH20_uc002lif.2_5'UTR NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 6 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) ACTTCTGGTAGAATGAGCAAT 0.443000 RTTN 25914 broad.mit.edu 37 18 67802494 67802494 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:67802494A>T uc002lkp.2 - 22 2879 c.2811T>A c.(2809-2811)GAT>GAA p.D937E RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.D25E NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 937 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CGACACTACAATCTTCATGAA 0.279000 PQLC1 80148 broad.mit.edu 37 18 77679395 77679395 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr18:77679395C>T uc002lnl.2 - 5 569 c.397G>A c.(397-399)GAC>AAC p.D133N PQLC1_uc010dre.2_Missense_Mutation_p.D50N|PQLC1_uc002lnk.2_Missense_Mutation_p.D115N|PQLC1_uc010xfm.1_Intron NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 133 integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) TGGTGGGGGTCGAAGTCTAGG 0.607000 MIDN 90007 broad.mit.edu 37 19 1257094 1257094 + Silent SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:1257094G>C uc002lrp.2 + 8 1745 c.1230G>C c.(1228-1230)CGG>CGC p.R410R NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 410 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCCCGGCGGGACGCGCGGG 0.716000 EMR1 2015 broad.mit.edu 37 19 6921816 6921816 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:6921816A>G uc002mfw.2 + 14 1751 c.1713A>G c.(1711-1713)GAA>GAG p.E571E EMR1_uc010dvc.2_Silent_p.E571E|EMR1_uc010dvb.2_Silent_p.E519E|EMR1_uc010xji.1_Silent_p.E430E|EMR1_uc010xjj.1_Silent_p.E394E NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 571 GPS.|Extracellular (Potential).|Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) TGATCCTGGAAGCTTCTGAGA 0.478000 MUC16 94025 broad.mit.edu 37 19 9046074 9046074 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:9046074G>A uc002mkp.2 - 5 35761 c.35557C>T c.(35557-35559)CAT>TAT p.H11853Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11855 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTCCCTGGATGGGTGGAAAGT 0.483000 MUC16 94025 broad.mit.edu 37 19 9062990 9062990 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:9062990T>G uc002mkp.2 - 3 24660 c.24456A>C c.(24454-24456)GAA>GAC p.E8152D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8154 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCCTGGAGACTTCAGCAGTGG 0.542000 MYO9B 4650 broad.mit.edu 37 19 17283571 17283571 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:17283571T>G uc010eak.2 + 13 2091 c.1939T>G c.(1939-1941)TTC>GTC p.F647V MYO9B_uc002nfi.2_Missense_Mutation_p.F647V|MYO9B_uc002nfj.1_Missense_Mutation_p.F647V NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 647 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CCACCAGGACTTCCGGGAGAA 0.657000 MYO9B 4650 broad.mit.edu 37 19 17322769 17322769 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:17322769G>A uc010eak.2 + 40 6276 c.6124G>A c.(6124-6126)GCC>ACC p.A2042T MYO9B_uc002nfi.2_3'UTR|MYO9B_uc002nfm.1_3'UTR NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 2042 Tail. TVAAPP -> PWPPLH (in Ref. 3; AAC26597). actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CACCGTGGCCGCCCCTCCACG 0.687000 IL12RB1 3594 broad.mit.edu 37 19 18180500 18180500 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:18180500C>T uc002nhw.1 - 10 1109 c.1045G>A c.(1045-1047)GTC>ATC p.V349I IL12RB1_uc010xqb.1_Missense_Mutation_p.V349I|IL12RB1_uc002nhx.1_Missense_Mutation_p.V389I NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 349 Extracellular (Potential).|Fibronectin type-III 4. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 TTGGTTCCGACGCTGATATTC 0.602000 ZNF208 7757 broad.mit.edu 37 19 22155008 22155008 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:22155008T>G uc002nqp.2 - 5 2677 c.2528A>C c.(2527-2529)AAA>ACA p.K843T ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTGTAGAATTTCTCTCCAGC 0.363000 ZNF676 163223 broad.mit.edu 37 19 22364289 22364289 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:22364289T>A uc002nqs.1 - 3 548 c.230A>T c.(229-231)GAG>GTG p.E77V NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTGTAAATTCTCATGTCCACA 0.338000 ZNF99 7652 broad.mit.edu 37 19 22941224 22941224 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:22941224A>G uc010xrh.1 - 5 1214 c.1214T>C c.(1213-1215)CTT>CCT p.L405P NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ATGTACAGTAAGTTTTGAGGA 0.348000 CLIP3 25999 broad.mit.edu 37 19 36515470 36515470 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:36515470G>T uc010eeq.1 - 6 1028 c.746C>A c.(745-747)GCA>GAA p.A249E uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.A249E NM_015526 NP_056341 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 249 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGCCGCCTCTGCCTTGTCCAG 0.597000 ZFP14 57677 broad.mit.edu 37 19 36831555 36831555 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:36831555A>G uc002odx.1 - 4 1266 c.1173T>C c.(1171-1173)ACT>ACC p.T391T ZFP14_uc010xtd.1_Silent_p.T392T|ZFP14_uc010eex.1_Silent_p.T391T NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) GTTTCTCACGAGTATGTATTC 0.393000 CD177 57126 broad.mit.edu 37 19 43866347 43866347 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:43866347G>A uc002owi.2 + 10 1231 c.1189G>A c.(1189-1191)GAT>AAT p.D397N CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 397 blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) TGAGAAGCGTGATGTGCAGCC 0.612000 CCDC8 83987 broad.mit.edu 37 19 46915030 46915030 + Silent SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:46915030C>A uc002pep.2 - 1 1890 c.1038G>T c.(1036-1038)GGG>GGT p.G346G NM_032040 NP_114429 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 346 plasma membrane ovary(3) 3 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CAGCTGGGGCCCCTGCCCTCT 0.622000 SIGLEC11 114132 broad.mit.edu 37 19 50461825 50461825 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:50461825G>A uc010ybh.1 - 8 1457 c.1366C>T c.(1366-1368)CCT>TCT p.P456S SIGLEC11_uc010ybi.1_Intron NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 456 Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) AGCTGTGGAGGGTCTGTGGGG 0.692000 MYBPC2 4606 broad.mit.edu 37 19 50949194 50949194 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:50949194C>T uc002psf.2 + 12 1242 c.1191C>T c.(1189-1191)TTC>TTT p.F397F NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 397 Ig-like C2-type 3. 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) GGTACCGCTTCAAGAAGGACG 0.572000 ZNF614 80110 broad.mit.edu 37 19 52520427 52520427 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:52520427T>A uc002pyj.2 - 5 826 c.424A>T c.(424-426)AGT>TGT p.S142C ZNF614_uc002pyi.3_Missense_Mutation_p.S142C|ZNF614_uc010epj.2_Translation_Start_Site NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TTGATTAAACTTAAACTTGAT 0.328000 ZNF583 147949 broad.mit.edu 37 19 56935669 56935669 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:56935669T>G uc010ygl.1 + 5 1807 c.1642T>G c.(1642-1644)TTG>GTG p.L548V ZNF583_uc002qnc.2_Missense_Mutation_p.L548V|ZNF583_uc010ygm.1_Missense_Mutation_p.L548V NM_001159860 NP_001153332 Q96ND8 ZN583_HUMAN zinc finger protein 583 548 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) ggagtcattcttgactctttc 0.174000 DNAJC5G 285126 broad.mit.edu 37 2 27503062 27503062 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:27503062A>C uc002rjl.1 + 6 967 c.549A>C c.(547-549)GAA>GAC p.E183D TRIM54_uc002rjn.2_5'Flank|TRIM54_uc002rjo.2_5'Flank|DNAJC5G_uc010yli.1_Missense_Mutation_p.K96T|DNAJC5G_uc002rjm.1_Missense_Mutation_p.E183D NM_173650 NP_775921 Q8N7S2 DNJ5G_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 183 protein folding membrane heat shock protein binding|unfolded protein binding skin(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGCGAGGAAAATAGCGAAG 0.338000 OREG0014517 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SUPT7L 9913 broad.mit.edu 37 2 27880285 27880285 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:27880285C>T uc002rlh.1 - 4 1014 c.671G>A c.(670-672)GGT>GAT p.G224D SUPT7L_uc002rli.1_Missense_Mutation_p.G224D|SUPT7L_uc010ymf.1_Missense_Mutation_p.G89D|SUPT7L_uc002rlj.1_Missense_Mutation_p.G222D|SUPT7L_uc010ezh.1_Missense_Mutation_p.G222D NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 224 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) ACTGCCAATACCCACTTCATG 0.532000 CLIP4 79745 broad.mit.edu 37 2 29383324 29383324 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:29383324T>G uc002rmv.2 + 12 1764 c.1525T>G c.(1525-1527)TTC>GTC p.F509V CLIP4_uc002rmu.2_Missense_Mutation_p.F509V|CLIP4_uc010ezm.1_Missense_Mutation_p.F509V|CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 509 CAP-Gly 2. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GACAACAAACTTCGCTCCAGG 0.393000 ALK 238 broad.mit.edu 37 2 29450510 29450510 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:29450510G>A uc002rmy.2 - 17 3751 c.2844C>T c.(2842-2844)CCC>CCT p.P948P NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 948 Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CATCCATTTCGGGGTCATTGT 0.512000 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome ALK 238 broad.mit.edu 37 2 29754908 29754908 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:29754908C>G uc002rmy.2 - 4 1934 c.1027G>C c.(1027-1029)GAG>CAG p.E343Q NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 343 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GTGCAGTGCTCACTGCTGCTC 0.577000 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome STRN 6801 broad.mit.edu 37 2 37096829 37096829 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:37096829T>G uc002rpn.2 - 11 1376 c.1367A>C c.(1366-1368)AAG>ACG p.K456T STRN_uc010ezx.2_Missense_Mutation_p.K419T NM_003162 NP_003153 O43815 STRN_HUMAN striatin, calmodulin binding protein 456 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding skin(1) 1 Ovarian(717;0.0129)|all_hematologic(82;0.21) CAATGTAAACTTAGGGTTCCA 0.368000 HEATR5B 54497 broad.mit.edu 37 2 37289138 37289138 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:37289138A>G uc002rpp.1 - 11 1736 c.1640T>C c.(1639-1641)CTA>CCA p.L547P NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 547 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) CTGTAAAGATAGCCTGCTATT 0.363000 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48896962 48896962 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:48896962A>C uc010yol.1 + 6 3098 c.3051A>C c.(3049-3051)GAA>GAC p.E1017D STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.E1064D|GTF2A1L_uc002rws.1_Missense_Mutation_p.E360D|GTF2A1L_uc010yom.1_Missense_Mutation_p.E326D|GTF2A1L_uc002rwt.2_Missense_Mutation_p.E360D NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 1017 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCAATGAAGAAATAGGAAGTA 0.378000 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48896972 48896972 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:48896972A>G uc010yol.1 + 6 3108 c.3061A>G c.(3061-3063)ACA>GCA p.T1021A STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.T1068A|GTF2A1L_uc002rws.1_Missense_Mutation_p.T364A|GTF2A1L_uc010yom.1_Missense_Mutation_p.T330A|GTF2A1L_uc002rwt.2_Missense_Mutation_p.T364A NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 1021 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATAGGAAGTACAAGAGATGC 0.393000 CCDC88A 55704 broad.mit.edu 37 2 55527028 55527028 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:55527028C>G uc002ryv.2 - 29 5611 c.4769G>C c.(4768-4770)GGC>GCC p.G1590A CCDC88A_uc010yoz.1_Missense_Mutation_p.G1563A|CCDC88A_uc010ypa.1_Missense_Mutation_p.G1590A|CCDC88A_uc002ryt.2_5'Flank|CCDC88A_uc010fbw.2_Intron|CCDC88A_uc002ryu.2_Missense_Mutation_p.G845A|CCDC88A_uc002rys.2_Missense_Mutation_p.G548A|CCDC88A_uc002ryw.2_Missense_Mutation_p.G874A|CCDC88A_uc010fby.1_Missense_Mutation_p.G442A NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1591 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 GGATGTTCTGCCACTATCAAG 0.378000 FAM161A 84140 broad.mit.edu 37 2 62069423 62069423 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:62069423G>T uc010ypo.1 - 2 358 c.256C>A c.(256-258)CCT>ACT p.P86T FAM161A_uc002sbm.3_Missense_Mutation_p.P86T|FAM161A_uc002sbn.3_5'UTR|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_5'UTR NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 86 response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 TGAATATCAGGAAAGTTCACA 0.408000 CLEC4F 165530 broad.mit.edu 37 2 71039670 71039670 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:71039670A>G uc002shf.2 - 5 1525 c.1448T>C c.(1447-1449)TTT>TCT p.F483S CLEC4F_uc010yqv.1_Missense_Mutation_p.F483S NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 483 Extracellular (Potential).|C-type lectin. endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 GACACTAGAAAAATAATATAA 0.522000 ELMOD3 84173 broad.mit.edu 37 2 85584355 85584355 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:85584355G>C uc002spf.3 + 5 699 c.34G>C c.(34-36)GAA>CAA p.E12Q ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Missense_Mutation_p.E12Q|ELMOD3_uc002sph.3_Missense_Mutation_p.E12Q|ELMOD3_uc010ysn.1_Missense_Mutation_p.E12Q|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA|RETSAT_uc002spd.2_5'Flank|RETSAT_uc010ysm.1_5'Flank|RETSAT_uc010fgf.2_5'Flank NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 12 phagocytosis cytoskeleton ovary(2) 2 CCATAGTAAAGAAGAATTAAG 0.348000 EIF2AK3 9451 broad.mit.edu 37 2 88874887 88874887 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:88874887G>T uc002stc.3 - 13 2316 c.2114C>A c.(2113-2115)ACA>AAA p.T705K NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 705 Cytoplasmic (Potential).|Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 ATGTTCTTTTGTAGCGAAAGG 0.438000 CNGA3 1261 broad.mit.edu 37 2 98996761 98996761 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:98996761A>G uc002syt.2 + 4 756 c.339A>G c.(337-339)CAA>CAG p.Q113Q CNGA3_uc002syu.2_Silent_p.Q113Q|CNGA3_uc010fij.2_Silent_p.Q117Q NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 113 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 TGTCCAGCCAAGAAAGCAATG 0.602000 UXS1 80146 broad.mit.edu 37 2 106781218 106781218 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:106781218G>C uc002tdm.2 - 3 243 c.145C>G c.(145-147)CTA>GTA p.L49V UXS1_uc002tdn.2_Missense_Mutation_p.L54V|UXS1_uc002tdo.2_Intron|UXS1_uc010ywh.1_Intron NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 49 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 TCAATTTTTAGTTCACCATTT 0.333000 SLC35F5 80255 broad.mit.edu 37 2 114483031 114483031 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:114483031G>C uc002tku.1 - 12 1598 c.1174C>G c.(1174-1176)CCC>GCC p.P392A SLC35F5_uc002tkt.2_RNA NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 392 transport integral to membrane 0 ACTTTATTGGGAAACTCGAAG 0.353000 CNTNAP5 129684 broad.mit.edu 37 2 125262020 125262020 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:125262020T>G uc002tno.2 + 8 1575 c.1211T>G c.(1210-1212)CTT>CGT p.L404R CNTNAP5_uc010flu.2_Missense_Mutation_p.L405R NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 404 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GATGGTCTGCTTCTGTCCACA 0.552000 NCKAP5 344148 broad.mit.edu 37 2 133489583 133489583 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:133489583T>G uc002ttp.2 - 17 5544 c.5170A>C c.(5170-5172)ACC>CCC p.T1724P NCKAP5_uc002ttq.2_Missense_Mutation_p.T405P NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1724 protein binding 0 AGTGGAAAGGTTCCGATCCCA 0.527000 THSD7B 80731 broad.mit.edu 37 2 137814006 137814006 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:137814006T>C uc002tva.1 + 2 63 c.63T>C c.(61-63)TGT>TGC p.C21C THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) GGGGAAGGTGTACAGGAGACT 0.473000 THSD7B 80731 broad.mit.edu 37 2 137852465 137852465 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:137852465C>T uc002tva.1 + 3 880 c.880C>T c.(880-882)CCA>TCA p.P294S THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.P184S NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AGATTCCTTCCCATTGACTGT 0.458000 LRP1B 53353 broad.mit.edu 37 2 141004675 141004675 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:141004675T>G uc002tvj.1 - 87 14276 c.13304A>C c.(13303-13305)AAG>ACG p.K4435T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4435 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATGATCAGACTTGCTGCTCTT 0.378000 TSP Lung(27;0.18) XIRP2 129446 broad.mit.edu 37 2 168106793 168106793 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:168106793T>G uc002udx.2 + 8 8909 c.8891T>G c.(8890-8892)TTT>TGT p.F2964C XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.F2789C|XIRP2_uc010fpq.2_Missense_Mutation_p.F2742C|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.F310C NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2789 Potential. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GTGAAACAGTTTGAAGCAGAG 0.378000 DHRS9 10170 broad.mit.edu 37 2 169952128 169952128 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:169952128G>A uc002uep.2 + 8 2315 c.811G>A c.(811-813)GCT>ACT p.A271T DHRS9_uc002ueq.2_Missense_Mutation_p.A271T|DHRS9_uc010zdc.1_Missense_Mutation_p.A331T|DHRS9_uc010zdd.1_Missense_Mutation_p.A271T|DHRS9_uc010zde.1_Missense_Mutation_p.A271T NM_005771 NP_005762 Q9BPW9 DHRS9_HUMAN NADP-dependent retinol dehydrogenase/reductase 271 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity 0 CATGGACCACGCTCTAACAAG 0.433000 LRP2 4036 broad.mit.edu 37 2 170038698 170038698 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:170038698A>T uc002ues.2 - 51 10190 c.9977T>A c.(9976-9978)CTT>CAT p.L3326H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3326 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGAAGGGCAAGTCCTCTGGG 0.522000 TTN 7273 broad.mit.edu 37 2 179586841 179586841 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:179586841A>C uc010zfg.1 - 75 19041 c.18817T>G c.(18817-18819)TTT>GTT p.F6273V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F2934V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7200 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTGATGTCAAAGAAGGGAGAT 0.383000 TTN 7273 broad.mit.edu 37 2 179595331 179595331 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:179595331C>T uc010zfg.1 - 58 14421 c.14197G>A c.(14197-14199)GAA>AAA p.E4733K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1394K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5660 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGCTGATTTCCAAGAAGGCA 0.448000 TTN 7273 broad.mit.edu 37 2 179612541 179612541 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:179612541T>G uc002unb.2 - 46 14810 c.14586A>C c.(14584-14586)GAA>GAC p.E4862D TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAACTTGAACTTCTTCATAAC 0.358000 TTN 7273 broad.mit.edu 37 2 179614133 179614133 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:179614133T>G uc002unb.2 - 46 13218 c.12994A>C c.(12994-12996)AAA>CAA p.K4332Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGGAATTTTTTCTCTAGAA 0.398000 TTN 7273 broad.mit.edu 37 2 179644153 179644153 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:179644153T>C uc010zfg.1 - 23 3990 c.3766A>G c.(3766-3768)AAA>GAA p.K1256E TTN_uc010zfh.1_Missense_Mutation_p.K1210E|TTN_uc010zfi.1_Missense_Mutation_p.K1210E|TTN_uc010zfj.1_Missense_Mutation_p.K1210E|TTN_uc002unb.2_Missense_Mutation_p.K1256E|uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1256 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAATTTCTTTAATAAGTCTC 0.289000 GLS 2744 broad.mit.edu 37 2 191796341 191796341 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:191796341G>A uc002usf.2 + 14 1892 c.1628G>A c.(1627-1629)CGA>CAA p.R543Q GLS_uc002use.2_Missense_Mutation_p.R543Q|GLS_uc002usg.1_Missense_Mutation_p.R204Q|GLS_uc002ush.2_Missense_Mutation_p.R204Q|GLS_uc010zgi.1_Missense_Mutation_p.R114Q|GLS_uc010zgj.1_Missense_Mutation_p.R48Q NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 543 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTTGATCCTCGAAGAGAAGGT 0.299000 DNAH7 56171 broad.mit.edu 37 2 196762419 196762419 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:196762419A>C uc002utj.3 - 29 4720 c.4619T>G c.(4618-4620)TTT>TGT p.F1540C NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1540 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATGGGATAAAAATTTTGGCAG 0.284000 ZDBF2 57683 broad.mit.edu 37 2 207170929 207170929 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:207170929A>C uc002vbp.2 + 5 1927 c.1677A>C c.(1675-1677)GAA>GAC p.E559D NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 559 nucleic acid binding|zinc ion binding ovary(3) 3 CTGTCACAGAAACAAAACTTC 0.433000 MAP2 4133 broad.mit.edu 37 2 210558338 210558338 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:210558338T>G uc002vde.1 + 7 1692 c.1444T>G c.(1444-1446)TCA>GCA p.S482A MAP2_uc002vdc.1_Missense_Mutation_p.S482A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S478A NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 482 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GCACACTTTCTCAGAACAGAA 0.443000 PAX3 5077 broad.mit.edu 37 2 223160324 223160324 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:223160324T>G uc010fwo.2 - 3 740 c.374A>C c.(373-375)AAC>ACC p.N125T PAX3_uc002vmt.1_Missense_Mutation_p.N125T|PAX3_uc002vmy.1_Missense_Mutation_p.N124T|PAX3_uc002vmv.1_Missense_Mutation_p.N125T|PAX3_uc002vmw.1_Missense_Mutation_p.N125T|PAX3_uc002vmx.1_Missense_Mutation_p.N125T|PAX3_uc002vmz.1_Missense_Mutation_p.N125T|PAX3_uc002vna.1_Missense_Mutation_p.N125T|CCDC140_uc002vnb.1_5'Flank NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 125 Paired. apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.N125K(1) PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATGCCCGGGTTCTCTCTTTT 0.537000 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome SCG2 7857 broad.mit.edu 37 2 224462806 224462806 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:224462806A>C uc002vnm.2 - 2 1328 c.1195T>G c.(1195-1197)TTA>GTA p.L399V NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 399 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GGATGGTCTAAGTCAGCCTCT 0.532000 IRS1 3667 broad.mit.edu 37 2 227662033 227662033 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr2:227662033G>A uc002voh.3 - 1 1474 c.1422C>T c.(1420-1422)TCC>TCT p.S474S NM_005544 NP_005535 P35568 IRS1_HUMAN insulin receptor substrate 1 474 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1) 12 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGGTCAGGGTGGAGGGCCCCT 0.642000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C20orf194 25943 broad.mit.edu 37 20 3296404 3296404 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:3296404T>C uc002wii.2 - 19 1619 c.1568A>G c.(1567-1569)GAG>GGG p.E523G C20orf194_uc002wij.3_Missense_Mutation_p.E262G|C20orf194_uc002wik.2_Missense_Mutation_p.E197G NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 523 0 CTGGGTTTTCTCAGACAATTT 0.383000 ANKRD5 63926 broad.mit.edu 37 20 10025099 10025099 + Nonsense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:10025099C>T uc002wno.2 + 5 997 c.604C>T c.(604-606)CGA>TGA p.R202* uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Nonsense_Mutation_p.R202*|ANKRD5_uc010gbz.2_Nonsense_Mutation_p.R13* NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 202 ANK 2. calcium ion binding ovary(1)|breast(1) 2 GGAAATAGTTCGAGGCATATT 0.438000 MACROD2 140733 broad.mit.edu 37 20 15866408 15866408 + Splice_Site SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:15866408G>C uc002wou.2 + 10 992 c.728_splice c.e10-1 p.D243_splice MACROD2_uc002wot.2_Splice_Site_p.D243_splice|MACROD2_uc002woz.2_Splice_Site_p.D8_splice|MACROD2_uc002wpb.2_Splice_Site_p.D8_splice NM_080676 NP_542407 A1Z1Q3 MACD2_HUMAN MACRO domain containing 2 isoform 1 0 all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175) TTTTTTAACAGACGATAATAA 0.294000 C20orf26 26074 broad.mit.edu 37 20 20278863 20278863 + Silent SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:20278863T>G uc002wru.2 + 25 3331 c.3255T>G c.(3253-3255)ACT>ACG p.T1085T C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1085 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) AAAATGGGACTTACTTCCGAA 0.448000 C20orf3 57136 broad.mit.edu 37 20 24952138 24952138 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:24952138C>A uc002wty.2 - 5 597 c.496G>T c.(496-498)GCC>TCC p.A166S C20orf3_uc002wtz.2_Missense_Mutation_p.A166S|C20orf3_uc010zsw.1_Missense_Mutation_p.A166S NM_020531 NP_065392 Q9HDC9 APMAP_HUMAN chromosome 20 open reading frame 3 166 Extracellular (Potential). biosynthetic process cell surface|integral to membrane arylesterase activity|strictosidine synthase activity ovary(1) 1 TATGCATCGGCCACAAAGAGA 0.433000 C20orf70 140683 broad.mit.edu 37 20 31763239 31763239 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:31763239T>C uc002wyo.1 + 5 508 c.437T>C c.(436-438)CTG>CCG p.L146P NM_080574 NP_542141 Q96DR5 SPLC2_HUMAN chromosome 20 open reading frame 70 precursor 146 extracellular region lipid binding ovary(1)|central_nervous_system(1) 2 ATTATCAACCTGAAAGCCTCC 0.542000 GDF5 8200 broad.mit.edu 37 20 34025104 34025104 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:34025104A>G uc002xck.1 - 1 924 c.605T>C c.(604-606)ATC>ACC p.I202T GDF5_uc010gfc.1_Missense_Mutation_p.I202T|GDF5_uc010zvc.1_Missense_Mutation_p.I202T NM_000557 NP_000548 P43026 GDF5_HUMAN growth differentiation factor 5 preproprotein 202 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity 0 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) AAAGCTGGTGATGGTGTTGGC 0.607000 DLGAP4 22839 broad.mit.edu 37 20 35152740 35152740 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:35152740A>C uc002xff.2 + 11 3026 c.2591A>C c.(2590-2592)AAC>ACC p.N864T DLGAP4_uc010zvp.1_Missense_Mutation_p.N864T|DLGAP4_uc002xfg.2_Missense_Mutation_p.N160T|DLGAP4_uc002xfh.2_Missense_Mutation_p.N328T|DLGAP4_uc002xfi.2_Missense_Mutation_p.N173T|DLGAP4_uc002xfj.2_Missense_Mutation_p.N160T|uc002xfk.3_Intron NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 867 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TGTGAGCAAAACTTGGTGAGT 0.557000 CHD6 84181 broad.mit.edu 37 20 40033690 40033690 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:40033690A>G uc002xka.1 - 37 7869 c.7691T>C c.(7690-7692)GTG>GCG p.V2564A CHD6_uc002xjz.1_Missense_Mutation_p.V101A NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2564 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CTTTTCAGTCACTGCCGTACC 0.517000 IFT52 51098 broad.mit.edu 37 20 42232466 42232466 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:42232466G>C uc002xkw.2 + 4 396 c.274G>C c.(274-276)GAA>CAA p.E92Q IFT52_uc010zwi.1_Intron|IFT52_uc002xky.2_Missense_Mutation_p.E92Q|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.E92Q|IFT52_uc002xkz.2_Missense_Mutation_p.E92Q NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 92 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGAAGGTGGAGAATCCAGATT 0.323000 TSHZ2 128553 broad.mit.edu 37 20 51872267 51872267 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:51872267T>G uc002xwo.2 + 2 3226 c.2270T>G c.(2269-2271)CTG>CGG p.L757R NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 757 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AGGCGCTACCTGTTTGAGAAC 0.522000 STX16 8675 broad.mit.edu 37 20 57246276 57246276 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:57246276G>C uc002xzi.2 + 7 1450 c.715G>C c.(715-717)GAG>CAG p.E239Q STX16_uc010zzq.1_Missense_Mutation_p.E53Q|STX16_uc002xzk.2_Missense_Mutation_p.E222Q|STX16_uc002xzm.2_Missense_Mutation_p.E235Q|STX16_uc002xzj.2_Missense_Mutation_p.E218Q|STX16_uc002xzl.2_Missense_Mutation_p.E53Q NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 239 t-SNARE coiled-coil homology.|Cytoplasmic (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) GCGGGAACGAGAGATTCGCCA 0.478000 GNAS 2778 broad.mit.edu 37 20 57415578 57415578 + Silent SNP C C T rs148044699 TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:57415578C>T uc002xzt.2 + 1 784 c.417C>T c.(415-417)ACC>ACT p.T139T GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) AGCCCGAGACCGAGCCTGAAG 0.652000 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) SYCP2 10388 broad.mit.edu 37 20 58467103 58467103 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:58467103T>G uc002yaz.2 - 23 2445 c.2306A>C c.(2305-2307)AAA>ACA p.K769T NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 769 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TTTCTCTGCTTTTCTATGACT 0.333000 CDH26 60437 broad.mit.edu 37 20 58545194 58545194 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:58545194G>A uc002ybe.2 + 3 484 c.184G>A c.(184-186)GAG>AAG p.E62K CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 62 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CACCACCTTGGAGCTGGAGGA 0.507000 PCMTD2 55251 broad.mit.edu 37 20 62891494 62891494 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr20:62891494G>C uc002yil.3 + 2 376 c.176G>C c.(175-177)GGA>GCA p.G59A PCMTD2_uc002yim.3_Missense_Mutation_p.G59A NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 59 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TGGAAGCATGGAAACATTCAC 0.488000 NRIP1 8204 broad.mit.edu 37 21 16338789 16338789 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr21:16338789G>C uc002yjx.2 - 4 2323 c.1725C>G c.(1723-1725)ATC>ATG p.I575M NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 575 Repression domain 2. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AATTCCATTTGATGACCAGAG 0.453000 TIAM1 7074 broad.mit.edu 37 21 32624154 32624154 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr21:32624154C>T uc002yow.1 - 6 1787 c.1315G>A c.(1315-1317)GCC>ACC p.A439T TIAM1_uc011adk.1_Missense_Mutation_p.A439T|TIAM1_uc011adl.1_Missense_Mutation_p.A439T|TIAM1_uc002yox.1_Missense_Mutation_p.A47T NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 439 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ACGGCCAGGGCGCCGGCCTTG 0.642000 B3GALT5 10317 broad.mit.edu 37 21 41033300 41033300 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr21:41033300C>T uc002yyb.1 + 5 1406 c.814C>T c.(814-816)CGC>TGC p.R272C B3GALT5_uc002yye.2_Missense_Mutation_p.R272C|B3GALT5_uc002yyi.1_Missense_Mutation_p.R272C|B3GALT5_uc002yyj.1_Missense_Mutation_p.R272C|B3GALT5_uc002yyk.1_Missense_Mutation_p.R272C|B3GALT5_uc002yyl.1_Missense_Mutation_p.R272C|B3GALT5_uc002yym.1_Missense_Mutation_p.R272C NM_033173 NP_149363 Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 272 Lumenal (Potential). protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity skin(1) 1 Prostate(19;2.55e-06) AGGGGGCTTACGCTTCTCCGT 0.557000 DSCAM 1826 broad.mit.edu 37 21 41414515 41414515 + Missense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr21:41414515C>G uc002yyq.1 - 32 5921 c.5469G>C c.(5467-5469)ATG>ATC p.M1823I DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1823 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTTGCTCTTCCATCTTGGCGT 0.532000 TRPM2 7226 broad.mit.edu 37 21 45838438 45838438 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr21:45838438A>C uc002zet.1 + 23 3674 c.3461A>C c.(3460-3462)AAG>ACG p.K1154T TRPM2_uc002zeu.1_Missense_Mutation_p.K1154T|TRPM2_uc002zew.1_Missense_Mutation_p.K1154T|TRPM2_uc010gpt.1_Missense_Mutation_p.K1154T|TRPM2_uc002zex.1_Missense_Mutation_p.K940T|TRPM2_uc002zey.1_Missense_Mutation_p.K667T|uc011afe.1_Intron NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1154 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 ATCAGCAATAAGTATGGGGGC 0.612000 CECR2 27443 broad.mit.edu 37 22 18016838 18016838 + Silent SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr22:18016838G>C uc010gqw.1 + 9 1215 c.1089G>C c.(1087-1089)CTG>CTC p.L363L CECR2_uc010gqv.1_Silent_p.L222L|CECR2_uc002zml.2_Silent_p.L222L|CECR2_uc002zmn.2_5'UTR NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 405 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CATGGCTGCTGGCTCAAGGAA 0.488000 TOP3B 8940 broad.mit.edu 37 22 22313991 22313991 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr22:22313991C>T uc002zvs.2 - 15 2207 c.1772G>A c.(1771-1773)AGG>AAG p.R591K TOP3B_uc010gtm.1_Missense_Mutation_p.R136K|TOP3B_uc002zvr.2_Missense_Mutation_p.R316K|TOP3B_uc010gtl.2_Missense_Mutation_p.R591K|TOP3B_uc002zvt.3_Missense_Mutation_p.R591K NM_003935 NP_003926 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 591 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding kidney(1) 1 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GTGGAACTTCCTCTTGAACAC 0.612000 EWSR1 2130 broad.mit.edu 37 22 29695814 29695814 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr22:29695814G>T uc003aet.2 + 16 2232 c.1904G>T c.(1903-1905)GGA>GTA p.G635V EWSR1_uc003aev.2_Missense_Mutation_p.G640V|EWSR1_uc003aew.2_Missense_Mutation_p.G579V|EWSR1_uc003aex.2_Missense_Mutation_p.G634V|EWSR1_uc003aey.2_Missense_Mutation_p.G430V|EWSR1_uc003aez.2_Missense_Mutation_p.G296V NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 635 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 AGAAGAGGAGGACGTGGAGGA 0.607000 T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma NEFH 4744 broad.mit.edu 37 22 29885713 29885713 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr22:29885713A>T uc003afo.2 + 4 2155 c.2084A>T c.(2083-2085)AAG>ATG p.K695M NEFH_uc003afp.2_Translation_Start_Site NM_021076 NP_066554 P12036 NFH_HUMAN neurofilament, heavy polypeptide 200kDa 701 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.|20. cell death|nervous system development neurofilament 0 GAGAAGGCCAAGTCCCCAGTG 0.562000 KCNJ4 3761 broad.mit.edu 37 22 38823739 38823739 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr22:38823739C>T uc003avs.1 - 2 496 c.399G>A c.(397-399)ACG>ACA p.T133T KCNJ4_uc003avt.1_Silent_p.T133T NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 133 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) AGCCGATGGTCGTCTGCGTCT 0.622000 SATB1 6304 broad.mit.edu 37 3 18427901 18427901 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:18427901C>T uc003cbh.2 - 8 3144 c.1409G>A c.(1408-1410)CGT>CAT p.R470H SATB1_uc003cbi.2_Missense_Mutation_p.R470H|SATB1_uc003cbj.2_Missense_Mutation_p.R470H NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 470 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 CTGGGGAGGACGGCTGGGTGG 0.488000 KCNH8 131096 broad.mit.edu 37 3 19498345 19498345 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:19498345T>G uc003cbk.1 + 11 2106 c.1911T>G c.(1909-1911)TGT>TGG p.C637W KCNH8_uc010hex.1_Missense_Mutation_p.C98W NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 637 cNMP.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TAACCTACTGTGATCTCCAGT 0.408000 SCN5A 6331 broad.mit.edu 37 3 38616871 38616871 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:38616871G>A uc003cio.2 - 20 3777 c.3583C>T c.(3583-3585)CGC>TGC p.R1195C SCN5A_uc003cin.2_Missense_Mutation_p.R1194C|SCN5A_uc003cil.3_Missense_Mutation_p.R1195C|SCN5A_uc010hhi.2_Missense_Mutation_p.R1195C|SCN5A_uc010hhk.2_Missense_Mutation_p.R1194C|SCN5A_uc011ayr.1_Missense_Mutation_p.R1141C|SCN5A_uc010hhj.1_Missense_Mutation_p.R805C NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1195 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAGGTCTTGCGCAACCGCCAC 0.612000 DOCK3 1795 broad.mit.edu 37 3 50971428 50971428 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:50971428G>T uc011bds.1 + 5 258 c.235G>T c.(235-237)GTT>TTT p.V79F NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 79 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGAAACTGTGGTTCCACTTGA 0.398000 ACTR8 93973 broad.mit.edu 37 3 53906522 53906522 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:53906522A>C uc003dhd.2 - 10 1250 c.1191T>G c.(1189-1191)ACT>ACG p.T397T ACTR8_uc003dhb.2_Silent_p.T102T|ACTR8_uc003dhc.2_Silent_p.T286T NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 397 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding p.T397I(1) ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) CGATTCCAAAAGTTGCGGGGT 0.443000 ERC2 26059 broad.mit.edu 37 3 56183132 56183132 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:56183132T>G uc003dhr.1 - 5 1434 c.1178A>C c.(1177-1179)AAC>ACC p.N393T NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 393 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) ATCCCTTATGTTTCGTTCCAA 0.328000 SLC15A2 6565 broad.mit.edu 37 3 121641917 121641917 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:121641917A>C uc003eep.2 + 10 1051 c.898A>C c.(898-900)ACC>CCC p.T300P SLC15A2_uc011bjn.1_Missense_Mutation_p.T269P NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 300 Helical; (Potential). protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AAAGGCACTGACCAGGGTACT 0.433000 SEMA5B 54437 broad.mit.edu 37 3 122629130 122629130 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:122629130A>G uc003efz.1 - 23 3620 c.3316T>C c.(3316-3318)TTG>CTG p.L1106L SEMA5B_uc011bju.1_Silent_p.L1012L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003efy.1_Silent_p.L84L NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 1106 Cytoplasmic (Potential). cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TCAGGGATCAAGTTATTCTTG 0.527000 MYLK 4638 broad.mit.edu 37 3 123383036 123383036 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:123383036G>A uc003ego.2 - 23 4183 c.3901C>T c.(3901-3903)CGC>TGC p.R1301C MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.R101C|MYLK_uc011bjw.1_Missense_Mutation_p.R1301C|MYLK_uc003egp.2_Missense_Mutation_p.R1232C|MYLK_uc003egq.2_Missense_Mutation_p.R1301C|MYLK_uc003egr.2_Missense_Mutation_p.R1232C|MYLK_uc003egs.2_Missense_Mutation_p.R1125C NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1301 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGCTCCTGGCGCGCGGCCAGG 0.627000 MFSD1 64747 broad.mit.edu 37 3 158538076 158538076 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:158538076G>A uc003fcl.1 + 9 854 c.824G>A c.(823-825)TGC>TAC p.C275Y MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.C178Y|MFSD1_uc011bow.1_Missense_Mutation_p.C236Y|MFSD1_uc011box.1_Missense_Mutation_p.C202Y NM_022736 NP_073573 Q9H3U5 MFSD1_HUMAN major facilitator superfamily domain containing 275 Helical; (Potential). C -> R (in Ref. 1; BAB20269). transmembrane transport integral to membrane 0 Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523) ATCTGTGTCTGCTATTATGTT 0.348000 EIF4G1 1981 broad.mit.edu 37 3 184049780 184049780 + Silent SNP G G A rs112264710 byFrequency TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr3:184049780G>A uc003fnp.2 + 32 4722 c.4524G>A c.(4522-4524)GCG>GCA p.A1508A EIF4G1_uc003fnt.2_Silent_p.A1219A|EIF4G1_uc003fnq.2_Silent_p.A1421A|EIF4G1_uc003fnr.2_Silent_p.A1344A|EIF4G1_uc010hxx.2_Silent_p.A1515A|EIF4G1_uc003fns.2_Silent_p.A1468A|EIF4G1_uc010hxy.2_Silent_p.A1515A|EIF4G1_uc003fnv.3_Silent_p.A1509A|EIF4G1_uc003fnu.3_Silent_p.A1508A|EIF4G1_uc003fnw.2_Silent_p.A1515A|EIF4G1_uc003fnx.2_Silent_p.A1313A|EIF4G1_uc003fny.3_Silent_p.A1312A|EIF4G1_uc003foa.2_Silent_p.A180A NM_198241 NP_937884 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 1508 W2.|EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AAGCGCGAGCGAAGCTGCTGC 0.547000 SH3TC1 54436 broad.mit.edu 37 4 8233834 8233834 + Nonsense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:8233834C>T uc003gkv.3 + 13 3183 c.3082C>T c.(3082-3084)CAG>TAG p.Q1028* SH3TC1_uc003gkw.3_Nonsense_Mutation_p.Q952*|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1028 TPR 7. binding large_intestine(2)|pancreas(1) 3 GCTGGAGGGGCAGCTCCTGGA 0.532000 KCNIP4 80333 broad.mit.edu 37 4 20751288 20751288 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:20751288G>A uc003gqe.2 - 4 459 c.375C>T c.(373-375)TTC>TTT p.F125F KCNIP4_uc003gqf.1_Silent_p.F121F|KCNIP4_uc003gqg.1_Silent_p.F80F|KCNIP4_uc003gqh.1_Silent_p.F117F|KCNIP4_uc003gqi.1_Silent_p.F80F|PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpw.2_Intron|KCNIP4_uc010iel.2_Silent_p.F122F|KCNIP4_uc003gqd.3_Silent_p.F105F NM_147182 NP_671711 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 isoform 3 142 EF-hand 2.|1 (Potential). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity 0 Breast(46;0.134) AGCTTACCTCGAAACTCACAG 0.358000 OCIAD1 54940 broad.mit.edu 37 4 48853965 48853965 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:48853965A>G uc003gyo.2 + 7 777 c.520A>G c.(520-522)ACT>GCT p.T174A OCIAD1_uc011bzk.1_RNA|OCIAD1_uc003gyr.2_Missense_Mutation_p.T174A|OCIAD1_uc003gyp.2_Missense_Mutation_p.T174A|OCIAD1_uc003gys.2_Missense_Mutation_p.T174A|OCIAD1_uc003gyq.2_Missense_Mutation_p.T174A|OCIAD1_uc010igk.2_Missense_Mutation_p.T179A NM_017830 NP_060300 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 isoform 1 174 endosome protein binding 0 ATCTGCTCCCACTGGTATTAC 0.358000 AASDH 132949 broad.mit.edu 37 4 57221402 57221402 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:57221402G>A uc003hbn.2 - 6 1202 c.1049C>T c.(1048-1050)TCA>TTA p.S350L AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Missense_Mutation_p.S197L|AASDH_uc003hbo.2_Missense_Mutation_p.S250L|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Missense_Mutation_p.S350L|AASDH_uc003hbp.2_Missense_Mutation_p.S350L NM_181806 NP_861522 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 350 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding ovary(4) 4 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) CGCCCAACTTGATACCTCTGT 0.378000 EPHA5 2044 broad.mit.edu 37 4 66356240 66356240 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:66356240G>A uc003hcy.2 - 5 1450 c.1257C>T c.(1255-1257)AGC>AGT p.S419S EPHA5_uc003hcx.2_Silent_p.S350S|EPHA5_uc003hcz.2_Silent_p.S419S|EPHA5_uc011cah.1_Silent_p.S419S|EPHA5_uc011cai.1_Silent_p.S419S|EPHA5_uc003hda.2_Silent_p.S419S NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 419 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TTTTCAGGCCGCTTTGCCGGG 0.502000 TSP Lung(17;0.13) CENPC1 1060 broad.mit.edu 37 4 68383923 68383923 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:68383923T>A uc003hdd.1 - 7 964 c.781A>T c.(781-783)AGT>TGT p.S261C CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.S261C NM_001812 NP_001803 Q03188 CENPC_HUMAN centromere protein C 1 261 Nuclear localization signal (Potential). mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding urinary_tract(1)|lung(1) 2 GTTGAAAAACTTTTTTTAGCT 0.313000 TMPRSS11B 132724 broad.mit.edu 37 4 69101927 69101927 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:69101927T>G uc003hdw.3 - 3 318 c.182A>C c.(181-183)AAT>ACT p.N61T NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 61 SEA.|Extracellular (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 GTTTTCACAATTATCATTGTA 0.279000 KLHL8 57563 broad.mit.edu 37 4 88104378 88104378 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:88104378G>A uc011cdb.1 - 4 1314 c.929C>T c.(928-930)ACT>ATT p.T310I KLHL8_uc003hql.1_Missense_Mutation_p.T310I|KLHL8_uc003hqm.1_Missense_Mutation_p.T234I|KLHL8_uc003hqn.1_Missense_Mutation_p.T127I|KLHL8_uc010ikj.1_Intron NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 310 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) CCTTGGGGTAGTCCGAATGGA 0.393000 INTU 27152 broad.mit.edu 37 4 128627894 128627894 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:128627894C>A uc003ifk.1 + 12 2111 c.2041C>A c.(2041-2043)CAA>AAA p.Q681K INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 681 ovary(1) 1 CAGTAGGCTACAAGGTACTTC 0.453000 PCDH18 54510 broad.mit.edu 37 4 138451451 138451451 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:138451451A>C uc003ihe.3 - 1 2179 c.1792T>G c.(1792-1794)TTT>GTT p.F598V PCDH18_uc003ihf.3_Missense_Mutation_p.F591V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.F378V|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 598 Cadherin 6.|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) GTGACATGAAAGCCACTTTCA 0.443000 F11 2160 broad.mit.edu 37 4 187197505 187197505 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr4:187197505T>G uc003iza.1 + 7 1049 c.716T>G c.(715-717)TTT>TGT p.F239C NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 239 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TGCTTGTTTTTTACCTTCTTT 0.418000 CEP72 55722 broad.mit.edu 37 5 620252 620252 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:620252A>C uc003jbf.2 + 3 351 c.279A>C c.(277-279)GAA>GAC p.E93D CEP72_uc011clz.1_RNA NM_018140 NP_060610 Q9P209 CEP72_HUMAN centrosomal protein 72 kDa 93 LRR 3. G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol ovary(1) 1 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CGTTGGCAGAAGTGTTTCGGC 0.512000 ADCY2 108 broad.mit.edu 37 5 7820785 7820785 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:7820785G>T uc003jdz.1 + 24 3173 c.3106G>T c.(3106-3108)GTC>TTC p.V1036F ADCY2_uc011cmo.1_Missense_Mutation_p.V856F|ADCY2_uc010itm.1_Missense_Mutation_p.V232F NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 1036 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CAGCACCGGAGTCCTGGACAA 0.473000 CDH9 1007 broad.mit.edu 37 5 26886151 26886151 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:26886151G>A uc003jgs.1 - 10 1723 c.1554C>T c.(1552-1554)CCC>CCT p.P518P CDH9_uc011cnv.1_Silent_p.P111P NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 518 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TGTGACCTCGGGGAGGGTCAT 0.323000 RAI14 26064 broad.mit.edu 37 5 34796122 34796122 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:34796122A>C uc003jir.2 + 4 442 c.246A>C c.(244-246)CAA>CAC p.Q82H RAI14_uc010iur.2_Missense_Mutation_p.Q82H|RAI14_uc011coj.1_Missense_Mutation_p.Q82H|RAI14_uc010ius.1_Missense_Mutation_p.Q11H|RAI14_uc003jis.2_Missense_Mutation_p.Q85H|RAI14_uc003jit.2_Missense_Mutation_p.Q82H|RAI14_uc011cok.1_Missense_Mutation_p.Q74H NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 82 cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) TGACAGCCCAAGATACTACCG 0.398000 DNAJC21 134218 broad.mit.edu 37 5 34941212 34941212 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:34941212G>A uc003jjc.2 + 7 1134 c.907G>A c.(907-909)GAT>AAT p.D303N DNAJC21_uc003jjb.2_Missense_Mutation_p.D303N|DNAJC21_uc010iuu.1_Missense_Mutation_p.D187N NM_001012339 NP_001012339 Q5F1R6 DJC21_HUMAN DnaJ homology subfamily A member 5 isoform 2 303 Glu-rich. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|skin(1) 2 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TAAAGACAGTGATGAGGCCGA 0.358000 LMBRD2 92255 broad.mit.edu 37 5 36116613 36116613 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:36116613T>C uc003jkb.1 - 11 1800 c.1385A>G c.(1384-1386)TAT>TGT p.Y462C NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 462 Cytoplasmic (Potential). integral to membrane 0 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGAGGCCAAATAATAATAGTT 0.353000 LIFR 3977 broad.mit.edu 37 5 38490328 38490328 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:38490328A>G uc010ive.1 - 15 2463 c.2131T>C c.(2131-2133)TTA>CTA p.L711L LIFR_uc003jli.2_Silent_p.L711L NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 711 Fibronectin type-III 5.|Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) GAGCGTAATAATTGATATCCT 0.313000 T PLAG1 salivary adenoma RICTOR 253260 broad.mit.edu 37 5 39002699 39002699 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:39002699G>A uc003jlp.2 - 5 354 c.330C>T c.(328-330)CTC>CTT p.L110L RICTOR_uc003jlo.2_Silent_p.L110L|RICTOR_uc010ivf.2_5'UTR|RICTOR_uc003jlq.1_Silent_p.L94L|RICTOR_uc011cpk.1_Silent_p.L110L NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 110 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) AGTCTTGGATGAGATATCGAA 0.348000 NNT 23530 broad.mit.edu 37 5 43619206 43619206 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:43619206A>C uc003joe.2 + 5 927 c.672A>C c.(670-672)AAA>AAC p.K224N NNT_uc003jof.2_Missense_Mutation_p.K224N NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 224 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CTGCTGGAAAAGTTCCTCCAG 0.289000 SNCAIP 9627 broad.mit.edu 37 5 121780267 121780267 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:121780267G>A uc003ksw.1 + 8 1638 c.1432G>A c.(1432-1434)GAA>AAA p.E478K SNCAIP_uc011cwl.1_Missense_Mutation_p.E36K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E525K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E112K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E112K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E74K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E112K|SNCAIP_uc003kta.1_Missense_Mutation_p.E110K|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.E172K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E418K|uc003ktb.1_Intron|SNCAIP_uc003ktc.1_5'UTR NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 478 ANK 4. cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) GACCTTGGTTGAATATGGAGC 0.478000 SLC27A6 28965 broad.mit.edu 37 5 128320858 128320858 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:128320858A>T uc003kuy.2 + 3 910 c.514A>T c.(514-516)AGC>TGC p.S172C SLC27A6_uc003kuz.2_Missense_Mutation_p.S172C NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 172 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AATCCTTCCAAGCCTCTCAGA 0.413000 PCDHA7 56141 broad.mit.edu 37 5 140216062 140216062 + Silent SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:140216062G>T uc003lhq.2 + 1 2094 c.2094G>T c.(2092-2094)GTG>GTT p.V698V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.V698V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 698 Helical; (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGTCAACGTGTACCTGATCA 0.632000 PCDHA8 56140 broad.mit.edu 37 5 140221014 140221014 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:140221014C>T uc003lhs.2 + 1 108 c.108C>T c.(106-108)CCC>CCT p.P36P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.P36P NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 36 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCCGTCCCCGAGGAGGCCA 0.667000 PCDHB7 56129 broad.mit.edu 37 5 140554036 140554036 + Silent SNP G G A rs17844465 TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:140554036G>A uc003lit.2 + 1 1794 c.1620G>A c.(1618-1620)GCG>GCA p.A540A NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 540 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCCCCGCGCTGAGCAGCG 0.701000 PCDHB8 56128 broad.mit.edu 37 5 140559856 140559856 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:140559856T>C uc011dai.1 + 1 2427 c.2241T>C c.(2239-2241)TCT>TCC p.S747S PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 747 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGCCTGTCTCAGAACTATC 0.582000 PCDHB12 56124 broad.mit.edu 37 5 140588829 140588829 + Nonsense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:140588829T>A uc003liz.2 + 1 539 c.350T>A c.(349-351)TTA>TAA p.L117* PCDHB12_uc011dak.1_Intron NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 117 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGCAGTTTTTACAAATTGAG 0.448000 PCDHGA4 56111 broad.mit.edu 37 5 140734980 140734980 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:140734980G>A uc003ljq.1 + 1 213 c.213G>A c.(211-213)AGG>AGA p.R71R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.R71R NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 71 Cadherin 1.|Extracellular (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) CCAGAGGTAGGACGCAGCTTT 0.637000 KCTD16 57528 broad.mit.edu 37 5 143586929 143586929 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:143586929G>A uc003lnm.1 + 3 1281 c.652G>A c.(652-654)GCC>ACC p.A218T KCTD16_uc003lnn.1_Missense_Mutation_p.A218T NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 218 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CCCTGATCGAGCCCCAGAAAG 0.443000 ADAM19 8728 broad.mit.edu 37 5 156918907 156918907 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:156918907C>T uc003lwz.2 - 17 1986 c.1922G>A c.(1921-1923)GGG>GAG p.G641E ADAM19_uc003lww.1_Missense_Mutation_p.G374E|ADAM19_uc003lwy.2_Missense_Mutation_p.G240E|ADAM19_uc011ddr.1_Missense_Mutation_p.G572E NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 641 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGCACTGCCCCTCAAAGCA 0.517000 GABRA1 2554 broad.mit.edu 37 5 161322838 161322838 + Silent SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:161322838T>G uc010jiw.2 + 10 1491 c.1023T>G c.(1021-1023)GGT>GGG p.G341G GABRA1_uc010jix.2_Silent_p.G341G|GABRA1_uc010jiy.2_Silent_p.G341G|GABRA1_uc003lyx.3_Silent_p.G341G|GABRA1_uc010jiz.2_Silent_p.G341G|GABRA1_uc010jja.2_Silent_p.G341G|GABRA1_uc010jjb.2_Silent_p.G341G NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 341 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CTAAGAGAGGTTATGCATGGG 0.383000 ZNF354C 30832 broad.mit.edu 37 5 178505938 178505938 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:178505938T>C uc003mju.2 + 5 620 c.505T>C c.(505-507)TTA>CTA p.L169L NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GGGGAAAAGCTTATTTACAAA 0.343000 FAM65B 9750 broad.mit.edu 37 6 24873165 24873165 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:24873165T>C uc003neo.1 - 4 456 c.280A>G c.(280-282)ACG>GCG p.T94A FAM65B_uc011djs.1_Missense_Mutation_p.T123A|FAM65B_uc011dju.1_Missense_Mutation_p.T128A|FAM65B_uc003nep.2_Missense_Mutation_p.T94A|FAM65B_uc011djt.1_Missense_Mutation_p.T94A NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 94 Potential.|Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 TCCAGCTCCGTCTGGTGAACC 0.408000 BAT2 7916 broad.mit.edu 37 6 31591675 31591675 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:31591675C>T uc003nvb.3 + 3 528 c.279C>T c.(277-279)TCC>TCT p.S93S BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Silent_p.S93S|BAT2_uc003nve.2_5'Flank NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 93 4 X 57 AA type A repeats.|1-1. cytoplasm|nucleus protein binding 0 AGGAGCAGTCCGACCCCAAGA 0.522000 VARS 7407 broad.mit.edu 37 6 31750409 31750409 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:31750409C>T uc003nxe.2 - 16 2312 c.1889G>A c.(1888-1890)GGC>GAC p.G630D VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 630 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CCTGGGCAGGCCCTGGGTAGG 0.637000 DNAH8 1769 broad.mit.edu 37 6 38783350 38783350 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:38783350G>A uc003ooe.1 + 24 3389 c.2789G>A c.(2788-2790)CGT>CAT p.R930H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CAGCAAATCCGTCCCATCAAG 0.463000 C6orf138 442213 broad.mit.edu 37 6 47846507 47846507 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:47846507G>A uc011dwm.1 - 3 2107 c.2022C>T c.(2020-2022)AGC>AGT p.S674S C6orf138_uc011dwn.1_Silent_p.S438S NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 691 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TTGAGGTGACGCTAAGAATTA 0.453000 TFAP2D 83741 broad.mit.edu 37 6 50712857 50712857 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:50712857T>C uc003paf.2 + 6 1433 c.921T>C c.(919-921)ACT>ACC p.T307T TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 307 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) TTGGCTACACTTGTGAAACAG 0.443000 DST 667 broad.mit.edu 37 6 56504281 56504281 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:56504281G>A uc003pdf.2 - 20 2755 c.2727C>T c.(2725-2727)AAC>AAT p.N909N DST_uc003pcz.3_Silent_p.N731N|DST_uc011dxj.1_Silent_p.N760N|DST_uc011dxk.1_Silent_p.N771N|DST_uc011dxl.1_Silent_p.N760N|DST_uc003pcy.3_Silent_p.N405N|DST_uc003pdb.2_Silent_p.N405N|DST_uc003pdc.3_Silent_p.N405N|DST_uc003pdd.3_Silent_p.N405N|DST_uc003pde.2_Silent_p.N847N NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 731 Spectrin 1. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTATGTTGGTGTTTCTCTCAC 0.348000 COL12A1 1303 broad.mit.edu 37 6 75799948 75799948 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:75799948T>C uc003phs.2 - 63 8985 c.8819A>G c.(8818-8820)CAG>CGG p.Q2940R COL12A1_uc003pht.2_Missense_Mutation_p.Q1776R NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2940 Nonhelical region (NC2). cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CGGGCCTGGCTGGTTGCGACT 0.572000 PGM3 5238 broad.mit.edu 37 6 83889610 83889610 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:83889610A>G uc003pjv.2 - 7 904 c.864T>C c.(862-864)GAT>GAC p.D288D PGM3_uc003pjw.2_Silent_p.D207D|PGM3_uc011dyz.1_Silent_p.D316D NM_015599 NP_056414 O95394 AGM1_HUMAN phosphoglucomutase 3 288 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity 0 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) GGCCATCTGCATCATGGTAGT 0.408000 MDN1 23195 broad.mit.edu 37 6 90405430 90405430 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:90405430C>T uc003pnn.1 - 61 9781 c.9665G>A c.(9664-9666)AGC>AAC p.S3222N NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 3222 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CACCCAGAGGCTCCCACGCTG 0.592000 BEND3 57673 broad.mit.edu 37 6 107390518 107390518 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:107390518T>G uc003prs.2 - 5 2527 c.1877A>C c.(1876-1878)AAA>ACA p.K626T NM_001080450 NP_001073919 Q5T5X7 BEND3_HUMAN BEN domain containing 3 626 BEN 3. ovary(3) 3 GCGGTCGTTTTTGGCGCGTGG 0.642000 RWDD1 51389 broad.mit.edu 37 6 116911490 116911490 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:116911490A>C uc003pxd.2 + 5 633 c.470A>C c.(469-471)AAG>ACG p.K157T RWDD1_uc003pxb.2_Missense_Mutation_p.K61T|RWDD1_uc003pxc.2_Missense_Mutation_p.K61T NM_015952 NP_057036 Q9H446 RWDD1_HUMAN RWD domain containing 1 isoform a 157 Interaction with DRG2 (By similarity). protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) TGGAAAGCCAAGTTTGATGCA 0.328000 ROS1 6098 broad.mit.edu 37 6 117632217 117632217 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:117632217A>C uc003pxp.1 - 39 6398 c.6199T>G c.(6199-6201)TGT>GGT p.C2067G ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2067 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAGTAGACACAGCCTTTTGAA 0.383000 T GOPC|ROS1 glioblastoma|NSCLC C6orf58 352999 broad.mit.edu 37 6 127911272 127911272 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:127911272A>C uc003qbh.2 + 5 727 c.715A>C c.(715-717)AGT>CGT p.S239R NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 239 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TTTTGAGAGAAGTTGGGTACT 0.373000 LAMA2 3908 broad.mit.edu 37 6 129636643 129636644 + Missense_Mutation DNP CC CC AT TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:129636643_129636644CC>AT uc003qbn.2 + 25 3683_3684 c.3578_3579CC>AT c.(3577-3579)ACC>AAT p.T1193N LAMA2_uc003qbo.2_Missense_Mutation_p.T1193N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1193 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTGAGCAGACCATTCTACCCC 0.470000 OLIG3 167826 broad.mit.edu 37 6 137814944 137814944 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:137814944A>T uc003qhp.1 - 1 588 c.364T>A c.(364-366)TCC>ACC p.S122T NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 122 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GCGATCTTGGAGAGCTTGCGC 0.617000 SYNE1 23345 broad.mit.edu 37 6 152603109 152603109 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:152603109A>C uc010kiw.2 - 97 18816 c.18214T>G c.(18214-18216)TTG>GTG p.L6072V SYNE1_uc010kiv.2_Missense_Mutation_p.L596V|SYNE1_uc003qos.3_Missense_Mutation_p.L596V|SYNE1_uc003qot.3_Missense_Mutation_p.L6001V|SYNE1_uc003qou.3_Missense_Mutation_p.L6072V|SYNE1_uc010kiy.1_Missense_Mutation_p.L251V NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6072 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) TGATCATTCAACTTCTCCTGT 0.403000 HNSCC(10;0.0054) TTLL2 83887 broad.mit.edu 37 6 167754541 167754541 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:167754541T>G uc003qvs.1 + 3 1241 c.1153T>G c.(1153-1155)TTA>GTA p.L385V TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 385 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ACCATGGCTTTTAGAGGTCAA 0.413000 DNAH11 8701 broad.mit.edu 37 7 21631031 21631031 + Nonsense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:21631031A>T uc003svc.2 + 14 2534 c.2503A>T c.(2503-2505)AAG>TAG p.K835* NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 835 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GAAAAACGTGAAGGTGATCCA 0.602000 Kartagener_syndrome CCDC129 223075 broad.mit.edu 37 7 31690791 31690791 + Silent SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:31690791A>T uc003tcj.1 + 12 3612 c.2619A>T c.(2617-2619)ATA>ATT p.I873I CCDC129_uc011kad.1_Silent_p.I883I|CCDC129_uc003tci.1_Silent_p.I724I|CCDC129_uc011kae.1_Silent_p.I899I|CCDC129_uc003tck.1_Silent_p.I781I NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 873 0 TGAAGACGATATGCCAAAGTT 0.463000 POU6F2 11281 broad.mit.edu 37 7 39247145 39247145 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:39247145T>C uc003thb.1 + 4 479 c.437T>C c.(436-438)CTC>CCC p.L146P POU6F2_uc010kxo.2_Missense_Mutation_p.L138P NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 146 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 ACAGCGAATCTCACCAACATC 0.567000 IGFBP3 3486 broad.mit.edu 37 7 45956889 45956889 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:45956889G>A uc003tns.2 - 2 685 c.553C>T c.(553-555)CGC>TGC p.R185C IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Missense_Mutation_p.R191C|IGFBP3_uc003tnt.2_Missense_Mutation_p.R88C NM_000598 NP_000589 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 185 negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(2)|lung(1) 3 Mecasermin(DB01277) ACTTTGTAGCGCTGGCTGTCT 0.507000 OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HUS1 3364 broad.mit.edu 37 7 48018032 48018032 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:48018032G>A uc003tod.1 - 3 469 c.339C>T c.(337-339)CTC>CTT p.L113L HUS1_uc003toe.1_Silent_p.L113L|HUS1_uc011kce.1_RNA NM_004507 NP_004498 O60921 HUS1_HUMAN HUS1 checkpoint protein 113 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding ovary(2)|lung(2)|kidney(1) 5 Breast(660;0.00139) CGGAGACCGTGAGGCAGGGAA 0.448000 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes PSPH 5723 broad.mit.edu 37 7 56087373 56087373 + Silent SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:56087373G>C uc003trg.2 - 4 558 c.195C>G c.(193-195)CGC>CGG p.R65R PSPH_uc003trh.2_Silent_p.R65R|PSPH_uc003tri.2_Silent_p.R65R|PSPH_uc003trj.2_Silent_p.R94R NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 65 Substrate. R->A,K: Loss of activity. L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TGAGGGCTAAGCGCTCTGTGA 0.632000 ZNF273 10793 broad.mit.edu 37 7 64388278 64388278 + Nonsense_Mutation SNP C C G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:64388278C>G uc003tto.2 + 4 648 c.572C>G c.(571-573)TCA>TGA p.S191* ZNF273_uc003ttl.2_Nonsense_Mutation_p.S126*|ZNF273_uc003ttn.2_Nonsense_Mutation_p.S126* NM_021148 NP_066971 Q14593 ZN273_HUMAN zinc finger protein 273 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(55;0.0295)|all_lung(88;0.0691) CATAAATTCTCAAATTCAAAT 0.308000 SEMA3A 10371 broad.mit.edu 37 7 83631275 83631275 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:83631275A>C uc003uhz.2 - 12 1763 c.1448T>G c.(1447-1449)TTT>TGT p.F483C NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 483 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ACTCACCCGAAAAACTGTCAT 0.418000 GRM3 2913 broad.mit.edu 37 7 86468386 86468386 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:86468386A>C uc003uid.2 + 4 2655 c.1556A>C c.(1555-1557)AAG>ACG p.K519T GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.K391T|GRM3_uc010leh.2_Missense_Mutation_p.K111T NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 519 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AATGAAATGAAGAATATGCAA 0.522000 KIAA1324L 222223 broad.mit.edu 37 7 86539263 86539263 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:86539263T>G uc011kha.1 - 16 2409 c.2224A>C c.(2224-2226)ATA>CTA p.I742L KIAA1324L_uc003uif.1_Missense_Mutation_p.I502L|KIAA1324L_uc011kgz.1_Missense_Mutation_p.I628L|KIAA1324L_uc003uie.2_Missense_Mutation_p.I575L NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 742 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) CCTGCCACTATTTCTTTTACT 0.378000 CDK14 5218 broad.mit.edu 37 7 90675256 90675256 + Silent SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:90675256T>A uc003uky.2 + 11 1308 c.1086T>A c.(1084-1086)TCT>TCA p.S362S CDK14_uc003ukz.1_Silent_p.S344S|CDK14_uc010les.1_Silent_p.S316S|CDK14_uc011khl.1_Silent_p.S233S NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 362 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 GAGTTCATTCTTTACCACATT 0.383000 DYNC1I1 1780 broad.mit.edu 37 7 95664938 95664938 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:95664938T>C uc003uoc.3 + 13 1566 c.1289T>C c.(1288-1290)ATG>ACG p.M430T DYNC1I1_uc003uod.3_Missense_Mutation_p.M413T|DYNC1I1_uc003uob.2_Missense_Mutation_p.M393T|DYNC1I1_uc003uoe.3_Missense_Mutation_p.M410T|DYNC1I1_uc010lfl.2_Missense_Mutation_p.M419T NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 430 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TAGGAGAGCATGGAGCTGGTG 0.468000 ACHE 43 broad.mit.edu 37 7 100490117 100490117 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:100490117C>T uc003uxd.2 - 2 1547 c.1391G>A c.(1390-1392)CGT>CAT p.R464H UFSP1_uc003uxc.3_5'Flank|ACHE_uc003uxe.2_Missense_Mutation_p.R464H|ACHE_uc003uxf.2_Missense_Mutation_p.R464H|ACHE_uc003uxg.2_Missense_Mutation_p.R464H|ACHE_uc003uxh.2_Missense_Mutation_p.R376H|ACHE_uc003uxi.2_Missense_Mutation_p.R464H NM_000665 NP_000656 P22303 ACES_HUMAN acetylcholinesterase isoform E4-E6 precursor 464 acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity skin(2) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199) CGTGGAAGCACGGTGTTCAAA 0.647000 RELN 5649 broad.mit.edu 37 7 103191603 103191603 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:103191603G>A uc003vca.2 - 41 6373 c.6213C>T c.(6211-6213)ACC>ACT p.T2071T RELN_uc010liz.2_Silent_p.T2071T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2071 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) GGTGGTGCTCGGTGGAGCATA 0.602000 RELN 5649 broad.mit.edu 37 7 103338447 103338447 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:103338447A>G uc003vca.2 - 10 1156 c.996T>C c.(994-996)AAT>AAC p.N332N RELN_uc010liz.2_Silent_p.N332N NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 332 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) CTACACGAAGATTTTCCTGCT 0.463000 PIK3CG 5294 broad.mit.edu 37 7 106545572 106545572 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:106545572T>C uc003vdv.3 + 11 3134 c.3049T>C c.(3049-3051)TAT>CAT p.Y1017H PIK3CG_uc003vdu.2_Missense_Mutation_p.Y1017H|PIK3CG_uc003vdw.2_Missense_Mutation_p.Y1017H NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 1017 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TGTTAAGGCTTATCTAGCCCT 0.398000 COG5 10466 broad.mit.edu 37 7 106924093 106924093 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:106924093G>C uc003ved.2 - 13 2016 c.1491C>G c.(1489-1491)ATC>ATG p.I497M COG5_uc003vec.2_Missense_Mutation_p.I497M|COG5_uc003vee.2_Missense_Mutation_p.I497M NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 497 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 AAACCAAGTTGATAGGATCGA 0.388000 FOXP2 93986 broad.mit.edu 37 7 114303506 114303506 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:114303506A>C uc003vhb.2 + 15 2145 c.1771A>C c.(1771-1773)AGT>CGT p.S591R FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.S616R|FOXP2_uc003vha.2_Missense_Mutation_p.S499R|FOXP2_uc011kmu.1_Missense_Mutation_p.S608R|FOXP2_uc011kmv.1_Missense_Mutation_p.S590R|FOXP2_uc010ljz.1_Missense_Mutation_p.S406R|FOXP2_uc003vhe.1_Missense_Mutation_p.S161R NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 591 Fork-head. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TTTTTTCAGAAGTCCAACCTT 0.333000 LMOD2 442721 broad.mit.edu 37 7 123302861 123302861 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:123302861C>T uc003vky.2 + 2 1378 c.1221C>T c.(1219-1221)GTC>GTT p.V407V NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 407 Pro-rich. cytoskeleton actin binding|tropomyosin binding 0 CCAAAAAAGTCCAGACTGTGA 0.363000 SLC37A3 84255 broad.mit.edu 37 7 140082276 140082276 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr7:140082276G>A uc003vvo.2 - 2 217 c.51C>T c.(49-51)AGC>AGT p.S17S SLC37A3_uc003vvp.2_Silent_p.S17S|SLC37A3_uc010lnh.2_Silent_p.S17S|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_Silent_p.S17S|SLC37A3_uc011krb.1_Silent_p.S17S NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 17 Helical; (Potential). carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) CATGATGATGGCTGAACTGGG 0.443000 SLC7A2 6542 broad.mit.edu 37 8 17409284 17409284 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:17409284C>T uc011kyc.1 + 6 1013 c.844C>T c.(844-846)CGG>TGG p.R282W SLC7A2_uc011kyd.1_Missense_Mutation_p.R322W|SLC7A2_uc011kye.1_Missense_Mutation_p.R322W|SLC7A2_uc011kyf.1_Missense_Mutation_p.R282W NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 282 Cytoplasmic (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TGAAGAAGTTCGGAATCCCCA 0.368000 LZTS1 11178 broad.mit.edu 37 8 20112401 20112401 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:20112401A>C uc003wzr.2 - 1 403 c.292T>G c.(292-294)TTT>GTT p.F98V LZTS1_uc010ltg.1_Missense_Mutation_p.F98V NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 98 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GACGGGTCAAAGTCCACCCCA 0.592000 PDLIM2 64236 broad.mit.edu 37 8 22442530 22442530 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:22442530G>A uc003xby.2 + 5 716 c.316G>A c.(316-318)GGC>AGC p.G106S PDLIM2_uc003xbx.1_Missense_Mutation_p.G106S|PDLIM2_uc003xbz.2_Missense_Mutation_p.G106S|PDLIM2_uc003xca.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcb.2_Missense_Mutation_p.G106S|PDLIM2_uc003xcc.1_Missense_Mutation_p.G106S NM_021630 NP_067643 Q96JY6 PDLI2_HUMAN PDZ and LIM domain 2 isoform 2 106 actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626) CTCTCCACAGGGCTCCGTGAG 0.637000 FBXO16 157574 broad.mit.edu 37 8 28309947 28309947 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:28309947G>A uc003xgu.2 - 6 652 c.554C>T c.(553-555)ACA>ATA p.T185I ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.T172I|FBXO16_uc003xgw.2_Missense_Mutation_p.T172I NM_172366 NP_758954 Q8IX29 FBX16_HUMAN F-box only protein 16 185 ovary(1) 1 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249) AGAATTGCTTGTAACTAGTTG 0.378000 FUT10 84750 broad.mit.edu 37 8 33246606 33246606 + Nonsense_Mutation SNP G G A rs139904591 by1000genomes TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:33246606G>A uc003xje.2 - 4 1443 c.1087C>T c.(1087-1089)CGA>TGA p.R363* FUT10_uc003xjc.2_Nonsense_Mutation_p.R370*|FUT10_uc003xjd.2_Nonsense_Mutation_p.R335*|FUT10_uc011lbi.1_Nonsense_Mutation_p.R413*|FUT10_uc003xjf.2_Nonsense_Mutation_p.R301*|FUT10_uc003xjg.2_Nonsense_Mutation_p.R335*|FUT10_uc003xjh.2_Nonsense_Mutation_p.R363* NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 363 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) GTCAGAAGTCGCTGGTTAGAG 0.493000 GOT1L1 137362 broad.mit.edu 37 8 37791994 37791994 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:37791994C>T uc011lbj.1 - 9 1183 c.1083G>A c.(1081-1083)GTG>GTA p.V361V NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 361 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity ovary(1) 1 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) CCAGGTATTCCACCTGCTGGG 0.418000 FAM110B 90362 broad.mit.edu 37 8 59059700 59059700 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:59059700T>C uc003xtj.1 + 5 1791 c.911T>C c.(910-912)ATA>ACA p.I304T NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 304 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) TCTGACATAATATCCCTCAAC 0.498000 CNBD1 168975 broad.mit.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:88365898T>C uc003ydy.2 + 10 1235 c.1187T>C c.(1186-1188)CTT>CCT p.L396P NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 396 cNMP. ovary(3) 3 ATGGGGAAACTTAAGGAGAAG 0.323000 MMP16 4325 broad.mit.edu 37 8 89058904 89058904 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:89058904T>A uc003yeb.3 - 9 1764 c.1482A>T c.(1480-1482)AAA>AAT p.K494N NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 494 Hemopexin-like 4.|Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TACCATTTTCTTTGTGTACAA 0.393000 C8orf47 203111 broad.mit.edu 37 8 99101943 99101943 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:99101943G>C uc003yih.1 + 2 846 c.698G>C c.(697-699)GGA>GCA p.G233A NM_173549 NP_775820 Q6P6B1 CH047_HUMAN hypothetical protein LOC203111 233 Glu-rich. 0 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) ATATTGGAAGGAAGTCAGTTT 0.468000 SPAG1 6674 broad.mit.edu 37 8 101252743 101252743 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:101252743T>G uc003yjh.1 + 18 2479 c.2393T>G c.(2392-2394)CTT>CGT p.L798R SPAG1_uc003yji.1_Missense_Mutation_p.L798R NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 798 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) CCTGAGAAACTTCCGATAGCC 0.488000 TM7SF4 81501 broad.mit.edu 37 8 105361735 105361735 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:105361735C>T uc003ylx.1 + 2 1004 c.955C>T c.(955-957)CGG>TGG p.R319W NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 319 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TCTGCTGTATCGGCTCATTTT 0.473000 PTK2 5747 broad.mit.edu 37 8 141745365 141745365 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:141745365A>G uc003yvu.2 - 22 2245 c.2015T>C c.(2014-2016)CTT>CCT p.L672P PTK2_uc003yvo.2_Missense_Mutation_p.L300P|PTK2_uc011ljq.1_Missense_Mutation_p.L367P|PTK2_uc003yvp.2_Missense_Mutation_p.L340P|PTK2_uc003yvq.2_Missense_Mutation_p.L198P|PTK2_uc003yvr.2_Missense_Mutation_p.L612P|PTK2_uc003yvs.2_Missense_Mutation_p.L672P|PTK2_uc003yvt.2_Missense_Mutation_p.L694P|PTK2_uc003yvv.2_Missense_Mutation_p.L572P|PTK2_uc011ljr.1_Missense_Mutation_p.L672P|MIR151_hsa-mir-151|MI0000809_5'Flank NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 672 Protein kinase. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) CTGAGCTTTAAGTTCAGTAAA 0.522000 PPP1R16A 84988 broad.mit.edu 37 8 145725526 145725526 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr8:145725526A>T uc003zdd.2 + 5 1437 c.524A>T c.(523-525)GAC>GTC p.D175V uc003zde.1_5'Flank|PPP1R16A_uc003zdf.2_Missense_Mutation_p.D175V|GPT_uc011lli.1_5'Flank NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 175 plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) ATGCCCTATGACCTGTGTGAT 0.672000 AK3 50808 broad.mit.edu 37 9 4719266 4719266 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:4719266C>A uc003ziq.1 - 3 453 c.313G>T c.(313-315)GCT>TCT p.A105S AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.A65S|AK3_uc003zir.1_Missense_Mutation_p.A35S NM_016282 NP_057366 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 105 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity ovary(2) 2 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) ATCTGATAAGCTCTATCTAGG 0.398000 RANBP6 26953 broad.mit.edu 37 9 6012492 6012492 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:6012492T>C uc003zjr.2 - 1 3127 c.3116A>G c.(3115-3117)AAT>AGT p.N1039S RANBP6_uc011lmf.1_Missense_Mutation_p.N687S|RANBP6_uc003zjs.2_Missense_Mutation_p.N627S NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 1039 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATTGGAATTATTTGGACCAAT 0.368000 MPDZ 8777 broad.mit.edu 37 9 13192277 13192277 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:13192277T>A uc010mia.1 - 14 1878 c.1821A>T c.(1819-1821)TTA>TTT p.L607F MPDZ_uc010mhy.2_Missense_Mutation_p.L607F|MPDZ_uc010mhz.2_Missense_Mutation_p.L607F|MPDZ_uc011lmn.1_Missense_Mutation_p.L607F|MPDZ_uc003zlb.3_Missense_Mutation_p.L607F NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 607 PDZ 4. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TTTCCCCAAGTAAAGTTATGC 0.348000 CNTLN 54875 broad.mit.edu 37 9 17273831 17273831 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:17273831T>G uc003zmz.2 + 6 976 c.950T>G c.(949-951)CTT>CGT p.L317R CNTLN_uc003zmx.3_Missense_Mutation_p.L317R|CNTLN_uc003zmy.2_Missense_Mutation_p.L317R|CNTLN_uc010mio.2_5'UTR NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 317 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) CAGACTGAACTTATCCAGAAG 0.303000 ADAMTSL1 92949 broad.mit.edu 37 9 18795443 18795443 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:18795443A>C uc003zne.3 + 20 3853 c.3726A>C c.(3724-3726)GAA>GAC p.E1242D NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1242 Ig-like C2-type 2. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CACCAGTGGAAGCAGATGTGG 0.463000 FLJ46321 389763 broad.mit.edu 37 9 84610036 84610036 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:84610036T>G uc004amn.2 + 4 4698 c.4651T>G c.(4651-4653)TTT>GTT p.F1551V NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1551 integral to membrane 0 AAGCCCTGTGTTTAGTGATGT 0.507000 KIF27 55582 broad.mit.edu 37 9 86518567 86518567 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:86518567G>A uc004ana.2 - 4 1010 c.866C>T c.(865-867)TCA>TTA p.S289L KIF27_uc010mpw.2_Missense_Mutation_p.S289L|KIF27_uc010mpx.2_Missense_Mutation_p.S289L NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 289 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TGGAATATGTGAACTCTTCCT 0.453000 CTSL1 1514 broad.mit.edu 37 9 90344590 90344590 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:90344590G>A uc004aph.2 + 6 1074 c.724G>A c.(724-726)GTG>ATG p.V242M CTSL1_uc004api.2_Missense_Mutation_p.V242M|CTSL1_uc004apj.2_Missense_Mutation_p.V187M|CTSL1_uc010mqh.2_Missense_Mutation_p.V60M|CTSL1_uc004apk.2_Missense_Mutation_p.V242M|CTSL1_uc004apl.2_Missense_Mutation_p.V242M NM_001912 NP_001903 P07711 CATL1_HUMAN cathepsin L1 preproprotein 242 macrophage apoptosis|proteolysis extracellular region|lysosome|nucleus cysteine-type endopeptidase activity|histone binding ovary(3) 3 Glucagon recombinant(DB00040) AGTTGCAACTGTGGGGCCCAT 0.428000 CYLC2 1539 broad.mit.edu 37 9 105767737 105767737 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:105767737A>C uc004bbs.2 + 5 894 c.824A>C c.(823-825)AAG>ACG p.K275T NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 275 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) AAAGATAAGAAGAAGCCCAGT 0.259000 COL5A1 1289 broad.mit.edu 37 9 137622253 137622253 + Nonsense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:137622253C>T uc004cfe.2 + 7 1478 c.1096C>T c.(1096-1098)CAG>TAG p.Q366* NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 366 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAACCCCGACCAGCCCACAGA 0.592000 GLT6D1 360203 broad.mit.edu 37 9 138515964 138515964 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:138515964A>C uc010nbd.1 - 5 1064 c.810T>G c.(808-810)TTT>TTG p.F270L NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 270 Lumenal (Potential). carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups ovary(1) 1 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) TATTGAGGTAAAAATATTTGT 0.368000 CACNA1B 774 broad.mit.edu 37 9 141006876 141006876 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:141006876G>A uc004cog.2 + 39 5600 c.5455G>A c.(5455-5457)GCG>ACG p.A1819T CACNA1B_uc004coi.2_Missense_Mutation_p.A1031T|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Missense_Mutation_p.A99T NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1819 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCAGTGTGACGCGGAGTTGAG 0.557000 GYG2 8908 broad.mit.edu 37 X 2799210 2799210 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:2799210G>A uc004cqs.1 + 12 1744 c.1462G>A c.(1462-1464)GCG>ACG p.A488T GYG2_uc004cqt.1_Missense_Mutation_p.A457T|GYG2_uc004cqu.1_Missense_Mutation_p.A456T|GYG2_uc004cqv.1_Missense_Mutation_p.A231T|GYG2_uc004cqw.1_Missense_Mutation_p.A448T|GYG2_uc004cqx.1_Missense_Mutation_p.A386T|GYG2_uc010ndc.1_Missense_Mutation_p.A266T NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 488 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGGGAAGGACGCGTTTGCTCG 0.557000 TBL1X 6907 broad.mit.edu 37 X 9679769 9679769 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:9679769T>G uc010ndq.2 + 16 1926 c.1558T>G c.(1558-1560)TTG>GTG p.L520V TBL1X_uc004csq.3_Missense_Mutation_p.L469V|TBL1X_uc010ndr.2_Missense_Mutation_p.L469V|TBL1X_uc004csr.2_Missense_Mutation_p.L520V|TBL1X_uc004css.2_Missense_Mutation_p.L471V NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 520 WD 7. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) TGGGAAGTACTTGGCCAGTGG 0.532000 AMELX 265 broad.mit.edu 37 X 11316822 11316822 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:11316822T>G uc004cut.2 + 5 367 c.299T>G c.(298-300)ATG>AGG p.M100R ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.M114R|AMELX_uc004cuu.2_Missense_Mutation_p.M84R NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 100 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel 0 CAGCAACCAATGATGCCCGTT 0.642000 TLR7 51284 broad.mit.edu 37 X 12905418 12905418 + Silent SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:12905418T>A uc004cvc.2 + 3 1930 c.1791T>A c.(1789-1791)GTT>GTA p.V597V NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 597 LRR 20.|Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) ACCTAAAGGTTCTGCAGAAAC 0.398000 ACE2 59272 broad.mit.edu 37 X 15599426 15599426 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:15599426T>G uc004cxa.1 - 8 1156 c.988A>C c.(988-990)AAT>CAT p.N330H ACE2_uc004cxb.2_Missense_Mutation_p.N330H NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 330 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) AGCATGGAATTTTCCCAGAAT 0.493000 BEND2 139105 broad.mit.edu 37 X 18221885 18221885 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:18221885T>G uc004cyj.3 - 5 797 c.643A>C c.(643-645)AGT>CGT p.S215R BEND2_uc010nfb.2_Missense_Mutation_p.S215R NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 215 ovary(3)|kidney(1)|central_nervous_system(1) 5 TGTAATGAACTTGAGGAGACA 0.468000 FAM48B1 100130302 broad.mit.edu 37 X 24382605 24382605 + Silent SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:24382605C>T uc011mjx.1 + 1 1728 c.1728C>T c.(1726-1728)CTC>CTT p.L576L NM_001136234 NP_001129706 hypothetical protein LOC100130302 kidney(1) 1 CTGTGCCTCTCATTCAAGCTA 0.378000 DMD 1756 broad.mit.edu 37 X 31645908 31645908 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:31645908T>G uc004dda.1 - 55 8343 c.8099A>C c.(8098-8100)AAG>ACG p.K2700T DMD_uc004dcr.1_Missense_Mutation_p.K240T|DMD_uc004dcs.1_Missense_Mutation_p.K240T|DMD_uc004dct.1_Missense_Mutation_p.K240T|DMD_uc004dcu.1_Missense_Mutation_p.K240T|DMD_uc004dcv.1_Missense_Mutation_p.K240T|DMD_uc004dcw.2_Missense_Mutation_p.K1356T|DMD_uc004dcx.2_Missense_Mutation_p.K1359T|DMD_uc004dcz.2_Missense_Mutation_p.K2577T|DMD_uc004dcy.1_Missense_Mutation_p.K2696T|DMD_uc004ddb.1_Missense_Mutation_p.K2692T NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2700 Spectrin 19. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGCAAGAAACTTTTCCAGGTC 0.478000 FAM47A 158724 broad.mit.edu 37 X 34150170 34150170 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:34150170A>T uc004ddg.2 - 1 259 c.226T>A c.(226-228)TTT>ATT p.F76I NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 76 ovary(4)|central_nervous_system(1) 5 GGGAGTAAAAACTCGTCACGG 0.532000 MAGEB16 139604 broad.mit.edu 37 X 35820769 35820769 + Silent SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:35820769T>C uc010ngt.1 + 2 735 c.456T>C c.(454-456)TCT>TCC p.S152S NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 152 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 GCCACTTCTCTGAGATCCTCC 0.443000 ATP6AP2 10159 broad.mit.edu 37 X 40460100 40460100 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:40460100G>C uc004det.2 + 8 927 c.825G>C c.(823-825)AGG>AGC p.R275S ATP6AP2_uc010nhc.2_RNA|ATP6AP2_uc011mkl.1_Missense_Mutation_p.R199S|ATP6AP2_uc011mkm.1_Missense_Mutation_p.R243S|ATP6AP2_uc011mkn.1_Missense_Mutation_p.R197S|ATP6AP2_uc004deu.1_Missense_Mutation_p.R140S NM_005765 NP_005756 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory 275 Extracellular (Potential). angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity 0 CCCTCATTAGGAAGACAAGGA 0.358000 MED14 9282 broad.mit.edu 37 X 40552032 40552032 + Missense_Mutation SNP G G C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:40552032G>C uc004dex.3 - 14 1913 c.1773C>G c.(1771-1773)TTC>TTG p.F591L NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 591 Interaction with SREBF1. androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(2)|kidney(1)|skin(1) 4 TGTTTTCCTTGAACTGCTGCA 0.448000 USP11 8237 broad.mit.edu 37 X 47104478 47104478 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:47104478A>T uc004dhp.2 + 16 2279 c.2279A>T c.(2278-2280)GAG>GTG p.E760V USP11_uc004dhq.2_Missense_Mutation_p.E486V NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 760 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 GACGAGGTAGAGGCTGAGGTA 0.562000 SYN1 6853 broad.mit.edu 37 X 47434138 47434138 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:47434138T>C uc004die.2 - 11 1471 c.1342A>G c.(1342-1344)ACC>GCC p.T448A SYN1_uc004did.2_Missense_Mutation_p.T448A NM_006950 NP_008881 P17600 SYN1_HUMAN synapsin I isoform Ia 448 D; Pro-rich linker. cell junction|Golgi apparatus actin binding|ATP binding|ligase activity|transporter activity ovary(1) 1 TGCTGGGAGGTCTGGCGGCCC 0.677000 ZNF81 347344 broad.mit.edu 37 X 47775719 47775719 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:47775719T>A uc010nhy.1 + 6 2042 c.1674T>A c.(1672-1674)GAT>GAA p.D558E NM_007137 NP_009068 P51508 ZNF81_HUMAN zinc finger protein 81 558 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(315;0.0973) TTTGTGCTGATTGTGGGAGGG 0.423000 IQSEC2 23096 broad.mit.edu 37 X 53265548 53265548 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:53265548T>G uc004dsd.2 - 13 3608 c.3407A>C c.(3406-3408)AAA>ACA p.K1136T IQSEC2_uc004dsc.2_Missense_Mutation_p.K931T NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 1126 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 TGCGCCCCGTTTGAGCCCATC 0.657000 ALAS2 212 broad.mit.edu 37 X 55041235 55041235 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:55041235A>C uc004dua.3 - 9 1520 c.1382T>G c.(1381-1383)CTC>CGC p.L461R ALAS2_uc004dub.3_Missense_Mutation_p.L448R|ALAS2_uc004dud.3_Missense_Mutation_p.L424R NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 461 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) CCTGTCCATGAGTAGCTGGCG 0.607000 LAS1L 81887 broad.mit.edu 37 X 64738169 64738169 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:64738169G>A uc004dwa.1 - 12 1697 c.1625C>T c.(1624-1626)GCC>GTC p.A542V LAS1L_uc004dwc.1_Missense_Mutation_p.A525V|LAS1L_uc004dwd.1_Missense_Mutation_p.A483V|LAS1L_uc004dvy.1_Missense_Mutation_p.A55V|LAS1L_uc004dvz.1_Missense_Mutation_p.A55V NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 542 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 GCTGGAGCTGGCTGGCTTGAC 0.552000 CXorf65 158830 broad.mit.edu 37 X 70323883 70323883 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:70323883T>G uc011mpo.1 - 6 520 c.506A>C c.(505-507)AAG>ACG p.K169T CXorf65_uc011mpp.1_Missense_Mutation_p.K121T NM_001025265 NP_001020436 A6NEN9 CX065_HUMAN hypothetical protein LOC158830 169 central_nervous_system(1) 1 ACCTTTATTCTTCCTGAAGTC 0.383000 ITGB1BP2 26548 broad.mit.edu 37 X 70523493 70523493 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:70523493A>T uc004dzr.1 + 7 514 c.485A>T c.(484-486)GAG>GTG p.E162V BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.E144V NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 162 Cys-rich.|CHORD 2. muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) CAAGGCCCTGAGAGTGATGCT 0.512000 NHSL2 340527 broad.mit.edu 37 X 71360037 71360037 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:71360037G>A uc011mqa.1 + 6 2639 c.2639G>A c.(2638-2640)AGG>AAG p.R880K NHSL2_uc004eak.1_Missense_Mutation_p.R514K|NHSL2_uc010nli.2_Missense_Mutation_p.R649K NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 880 0 Renal(35;0.156) GTGGCCCGGAGGCCTCCAAGC 0.557000 NHSL2 340527 broad.mit.edu 37 X 71360088 71360088 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:71360088T>C uc011mqa.1 + 6 2690 c.2690T>C c.(2689-2691)CTA>CCA p.L897P NHSL2_uc004eak.1_Missense_Mutation_p.L531P|NHSL2_uc010nli.2_Missense_Mutation_p.L666P NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 897 0 Renal(35;0.156) GAGTATGCACTAACTTCACCA 0.562000 NAP1L2 4674 broad.mit.edu 37 X 72433801 72433801 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:72433801A>G uc004ebi.2 - 1 884 c.528T>C c.(526-528)GAT>GAC p.D176D NAP1L2_uc011mqj.1_Silent_p.D34D NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 176 Glu-rich (acidic). nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) TTTCCTCATCATCACAGTCCT 0.383000 RLIM 51132 broad.mit.edu 37 X 73812036 73812036 + Silent SNP G G T rs61754467 TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:73812036G>T uc004ebu.2 - 5 1404 c.1114C>A c.(1114-1116)CGG>AGG p.R372R RLIM_uc004ebw.2_Silent_p.R372R NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 372 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ACACCTGCCCGCTCAGAACGT 0.443000 KIAA2022 340533 broad.mit.edu 37 X 73963244 73963244 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:73963244T>C uc004eby.2 - 3 1765 c.1148A>G c.(1147-1149)AAG>AGG p.K383R NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 383 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TTTGCCTTTCTTCTTGTCCAA 0.453000 ATRX 546 broad.mit.edu 37 X 76918897 76918897 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:76918897T>G uc004ecp.3 - 12 4326 c.4094A>C c.(4093-4095)GAA>GCA p.E1365A ATRX_uc004ecq.3_Missense_Mutation_p.E1327A|ATRX_uc004eco.3_Missense_Mutation_p.E1150A|ATRX_uc004ecr.2_Missense_Mutation_p.E1297A NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1365 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GCCTTTGACTTCTTTATGCTC 0.323000 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome ATRX 546 broad.mit.edu 37 X 76939970 76939970 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:76939970T>G uc004ecp.3 - 9 1010 c.778A>C c.(778-780)AAC>CAC p.N260H ATRX_uc004ecq.3_Missense_Mutation_p.N222H|ATRX_uc004eco.3_Missense_Mutation_p.N45H|ATRX_uc004ecr.2_Missense_Mutation_p.N221H|ATRX_uc010nlx.1_Missense_Mutation_p.N260H|ATRX_uc010nly.1_Missense_Mutation_p.N205H NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 260 ADD.|PHD-type; atypical. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) CATTGGTTGTTTTCATCCATT 0.403000 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome CHM 1121 broad.mit.edu 37 X 85155675 85155675 + Silent SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:85155675G>A uc004eet.2 - 11 1419 c.1389C>T c.(1387-1389)GTC>GTT p.V463V CHM_uc011mqz.1_Silent_p.V315V NM_000390 NP_000381 P24386 RAE1_HUMAN choroideremia isoform a 463 intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(1) 1 all_lung(315;5.41e-06) CTGTTTTTAGGACAGATCTAT 0.269000 PCDH11X 27328 broad.mit.edu 37 X 91132001 91132001 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:91132001T>G uc004efk.1 + 2 1607 c.762T>G c.(760-762)ATT>ATG p.I254M PCDH11X_uc004efl.1_Missense_Mutation_p.I254M|PCDH11X_uc004efo.1_Missense_Mutation_p.I254M|PCDH11X_uc010nmv.1_Missense_Mutation_p.I254M|PCDH11X_uc004efm.1_Missense_Mutation_p.I254M|PCDH11X_uc004efn.1_Missense_Mutation_p.I254M|PCDH11X_uc004efh.1_Missense_Mutation_p.I254M|PCDH11X_uc004efj.1_Missense_Mutation_p.I254M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 254 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 AGACAGAGATTGAAGTCAGTA 0.433000 PCDH11X 27328 broad.mit.edu 37 X 91873823 91873823 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:91873823A>G uc004efk.1 + 7 4773 c.3928A>G c.(3928-3930)AGA>GGA p.R1310G PCDH11X_uc004efl.1_Missense_Mutation_p.R1300G|PCDH11X_uc004efo.1_Missense_Mutation_p.R1273G|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.R1302G|PCDH11X_uc004efn.1_Missense_Mutation_p.R1292G NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1310 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CATGTCTGAAAGACTTCATCC 0.483000 TCEAL3 85012 broad.mit.edu 37 X 102864315 102864315 + Missense_Mutation SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:102864315G>A uc004ekq.2 + 3 585 c.323G>A c.(322-324)CGG>CAG p.R108Q TCEAL3_uc004ekr.2_Missense_Mutation_p.R108Q NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TATGTGCCCCGGAAAGCAAAA 0.597000 RAB9B 51209 broad.mit.edu 37 X 103080330 103080330 + Nonsense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:103080330C>A uc004ell.1 - 3 670 c.385G>T c.(385-387)GAG>TAG p.E129* RAB9B_uc004eli.1_Intron NM_016370 NP_057454 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 129 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(3) 3 TGCCTATCCTCTTTGTCTACC 0.433000 FAM199X 139231 broad.mit.edu 37 X 103431172 103431172 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:103431172T>C uc004elw.2 + 4 765 c.599T>C c.(598-600)GTG>GCG p.V200A FAM199X_uc004elx.2_Missense_Mutation_p.V17A NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 200 ovary(1) 1 AGTCGGAAAGTGAGTACTGAG 0.333000 MUM1L1 139221 broad.mit.edu 37 X 105450489 105450489 + Missense_Mutation SNP C C A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:105450489C>A uc004emf.1 + 4 1713 c.1064C>A c.(1063-1065)TCT>TAT p.S355Y MUM1L1_uc004emg.1_Missense_Mutation_p.S355Y NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 355 ovary(2)|pancreas(1)|skin(1) 4 GGTCAAGCCTCTGACAAGTCA 0.388000 ATG4A 115201 broad.mit.edu 37 X 107396918 107396918 + Missense_Mutation SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:107396918A>C uc004enr.2 + 13 1296 c.1173A>C c.(1171-1173)GAA>GAC p.E391D ATG4A_uc004ent.2_Missense_Mutation_p.E329D|ATG4A_uc004ens.2_Missense_Mutation_p.E307D|ATG4A_uc011msl.1_Missense_Mutation_p.E245D|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.E307D|COL4A6_uc011msm.1_Intron NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 391 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 ATCTGGAGGAAGATTTTGAGA 0.388000 GUCY2F 2986 broad.mit.edu 37 X 108652293 108652293 + Missense_Mutation SNP T T G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:108652293T>G uc004eod.3 - 9 2172 c.1896A>C c.(1894-1896)GAA>GAC p.E632D GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 632 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TCAGTATGTCTTCTAGGCTCC 0.408000 DOCK11 139818 broad.mit.edu 37 X 117700536 117700536 + Splice_Site SNP G G A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:117700536G>A uc004eqp.2 + 9 935 c.872_splice c.e9-1 p.D291_splice DOCK11_uc004eqq.2_Splice_Site_p.D57_splice NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 blood coagulation cytosol GTP binding ovary(3) 3 TGAATTTGCAGATGATGAAAC 0.413000 GLUD2 2747 broad.mit.edu 37 X 120182817 120182817 + Missense_Mutation SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:120182817G>T uc004eto.2 + 1 1356 c.1279G>T c.(1279-1281)GAT>TAT p.D427Y NM_012084 NP_036216 P49448 DHE4_HUMAN glutamate dehydrogenase 2 precursor 427 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding pancreas(1) 1 L-Glutamic Acid(DB00142)|NADH(DB00157) GGTTATTCCAGATCTCTACTT 0.428000 ODZ1 10178 broad.mit.edu 37 X 123540219 123540219 + Silent SNP G G T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:123540219G>T uc004euj.2 - 25 5146 c.5082C>A c.(5080-5082)GTC>GTA p.V1694V ODZ1_uc011muj.1_Silent_p.V1700V|ODZ1_uc010nqy.2_Silent_p.V1701V NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1694 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTGACATGAGGACATTTTCAC 0.438000 ODZ1 10178 broad.mit.edu 37 X 123775705 123775705 + Silent SNP A A C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:123775705A>C uc004euj.2 - 11 2077 c.2013T>G c.(2011-2013)ACT>ACG p.T671T ODZ1_uc011muj.1_Silent_p.T670T|ODZ1_uc010nqy.2_Silent_p.T671T NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 671 EGF-like 5.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CCAGAAGAAAAGTTCCGTGTC 0.478000 BCORL1 63035 broad.mit.edu 37 X 129159091 129159091 + Missense_Mutation SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:129159091A>G uc004evb.1 + 7 3929 c.3815A>G c.(3814-3816)CAA>CGA p.Q1272R BCORL1_uc010nrd.1_Intron|BCORL1_uc004evc.1_Missense_Mutation_p.Q34R NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 1272 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 AGAAAGACCCAACGGGACACC 0.592000 PLAC1 10761 broad.mit.edu 37 X 133700336 133700336 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:133700336T>A uc004exo.1 - 3 663 c.377A>T c.(376-378)AAG>ATG p.K126M PLAC1_uc004exp.1_Missense_Mutation_p.K126M NM_021796 NP_068568 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 precursor 126 placenta development extracellular region pancreas(1) 1 Acute lymphoblastic leukemia(192;0.000127) GGAGCAGGGCTTGGTGAGCCA 0.537000 LDOC1 23641 broad.mit.edu 37 X 140271010 140271010 + Missense_Mutation SNP T T A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:140271010T>A uc004fbj.2 - 1 301 c.197A>T c.(196-198)GAG>GTG p.E66V NM_012317 NP_036449 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 66 negative regulation of cell proliferation nucleus protein binding 0 Acute lymphoblastic leukemia(192;7.65e-05) CACGATAAACTCGGGGAGCCG 0.617000 AFF2 2334 broad.mit.edu 37 X 147743468 147743468 + Missense_Mutation SNP A A T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:147743468A>T uc004fcp.2 + 3 699 c.220A>T c.(220-222)ACG>TCG p.T74S AFF2_uc004fco.2_Missense_Mutation_p.T70S|AFF2_uc004fcq.2_Missense_Mutation_p.T70S|AFF2_uc004fcr.2_Missense_Mutation_p.T70S|AFF2_uc011mxb.1_Missense_Mutation_p.T74S|AFF2_uc004fcs.2_Missense_Mutation_p.T70S NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 74 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AGTCCAGAACACGCTTGGAAA 0.403000 IDS 3423 broad.mit.edu 37 X 148586601 148586601 + Missense_Mutation SNP C C T TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:148586601C>T uc011mxe.1 - 1 265 c.67G>A c.(67-69)GCC>ACC p.A23T IDS_uc011mxf.1_5'UTR|IDS_uc011mxg.1_5'UTR|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Intron|IDS_uc011mxh.1_Missense_Mutation_p.A23T|IDS_uc011mxi.1_RNA|IDS_uc011mxj.1_Missense_Mutation_p.A23T NM_000202 NP_000193 P22304 IDS_HUMAN iduronate-2-sulfatase isoform a precursor 23 lysosome iduronate-2-sulfatase activity|metal ion binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GATCCGAGGGCGACGCAGACG 0.527000 MECP2 4204 broad.mit.edu 37 X 153296057 153296057 + Silent SNP A A G TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:153296057A>G uc004fjv.2 - 4 1448 c.1222T>C c.(1222-1224)TTG>CTG p.L408L MECP2_uc004fjw.2_Silent_p.L420L NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 408 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGCTGCTCAAGTCCTGGGGC 0.682000 GDI1 2664 broad.mit.edu 37 X 153668347 153668347 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:153668347T>C uc004fli.3 + 5 790 c.448T>C c.(448-450)TTC>CTC p.F150L GDI1_uc011mzo.1_Missense_Mutation_p.F150L|GDI1_uc004flj.2_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 150 NFD -> GTY (in Ref. 2; BAA08078). protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTGGCAAACTTCGATGAGAA 0.542000 VAMP7 6845 broad.mit.edu 37 X 155127890 155127890 + Missense_Mutation SNP T T C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:155127890T>C uc004fnr.2 + 4 493 c.319T>C c.(319-321)TCA>CCA p.S107P VAMP7_uc004fnt.2_Missense_Mutation_p.S66P|VAMP7_uc011naa.1_Missense_Mutation_p.S68P|VAMP7_uc011nab.1_Missense_Mutation_p.S6P|VAMP7_uc004fns.2_Missense_Mutation_p.S107P|VAMP7_uc011nac.1_Missense_Mutation_p.S40P NM_005638 NP_005629 P51809 VAMP7_HUMAN vesicle-associated membrane protein 7 isoform 1 107 Longin.|Cytoplasmic (Potential). calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane protein binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TAGCGAGTTCTCAAGTGTCTT 0.408000 FCHO1 23149 broad.mit.edu 37 19 17877620 17877623 + Splice_Site DEL GTGT GTGT - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:17877619_17877622GGTGT>G uc002nhg.3 + 7 615 c.336_splice c.e7+1 p.K112_splice FCHO1_uc010ebb.2_Splice_Site_p.K112_splice|FCHO1_uc002nhh.2_Splice_Site_p.K112_splice|FCHO1_uc010xpw.1_Splice_Site_p.K62_splice|FCHO1_uc010ebc.1_Splice_Site_p.K119_splice NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 112 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCCACAAGAAGGTGTGTGTCGTGG 0.603 PIK3R1 5295 broad.mit.edu 37 5 67575545 67575545 + Frame_Shift_Del DEL G G - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:67575545delG uc003jva.2 + 5 1178 c.618delG c.(616-618)ATGfs p.M206fs PIK3R1_uc003jvb.2_Frame_Shift_Del_p.M206fs NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 206 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) ACAGTGAAATGATTTCTTTAG 0.403 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) APC 324 broad.mit.edu 37 5 112175951 112175952 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:112175951_112175952insA uc010jby.2 + 16 5040_5041 c.4660_4661insA c.(4660-4662)GAAfs p.E1554fs APC_uc011cvt.1_Frame_Shift_Ins_p.E1536fs|APC_uc003kpz.3_Frame_Shift_Ins_p.E1554fs|APC_uc003kpy.3_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.2_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.2_Frame_Shift_Ins_p.E854fs NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1554 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.T1556fs*3(35)|p.E1554fs*5(2)|p.E1554*(2)|p.?(1)|p.T1556fs*9(1)|p.K1192fs*3(1)|p.?fs(1)|p.E1554fs*11(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAAGAGGCAGAAAAAACTATT 0.342 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) C9orf84 158401 broad.mit.edu 37 9 114454528 114454529 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:114454528_114454529insA uc004bfr.2 - 25 3671_3672 c.3536_3537insT c.(3535-3537)TTAfs p.L1179fs C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Frame_Shift_Ins_p.L1140fs|C9orf84_uc010mug.2_Frame_Shift_Ins_p.L1090fs NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 1179 ovary(2) 2 TCACAGGTGGTAAAAAACTTGA 0.351 CXorf56 63932 broad.mit.edu 37 X 118694316 118694316 + Frame_Shift_Del DEL G G - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:118694316delG uc004erk.1 - 2 203 c.157delC c.(157-159)CGGfs p.R53fs CXorf56_uc004erj.1_Frame_Shift_Del_p.R4fs|CXorf56_uc011mtu.1_Frame_Shift_Del_p.R53fs NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 53 protein binding 0 GACCGGTCCCGGGGCCTCATG 0.463 CAMK1G 57172 broad.mit.edu 37 1 209785554 209785555 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr1:209785553_209785554C>CA uc001hhd.3 + 10 1434_1435 c.1332_1333C>CA c.(1330-1335)aacaaafs p.N444fs CAMK1G_uc001hhf.4_Frame_Shift_Ins_p.N444fs|CAMK1G_uc001hhe.3_Frame_Shift_Ins_p.N444fs NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA. 444 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.A443T(1) breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) AAAAGGCCAACAAAAAACAGTA 0.525 APC 324 broad.mit.edu 37 5 112175952 112175953 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr5:112175951_112175952G>GA uc003kpz.4 + 16 4853_4854 c.4660_4661G>GA c.(4660-4662)gaafs p.E1554fs APC_uc011cvt.2_Frame_Shift_Ins_p.E1536fs|APC_uc003kpy.4_Frame_Shift_Ins_p.E1554fs|APC_uc010jbz.3_Frame_Shift_Ins_p.E1271fs|APC_uc010jca.3_Frame_Shift_Ins_p.E854fs NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1554 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.T1556fs*3(42)|p.E1554fs*5(4)|p.E1554*(3)|p.E1554fs*3(2)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554fs*11(1)|p.A1553fs*14(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAAGAGGCAGAAAAAACTATT 0.342 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) MAP3K4 4216 broad.mit.edu 37 6 161469776 161469777 + Frame_Shift_Ins INS - - A rs80180935 TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr6:161469775_161469776T>TA uc003qtn.3 + 2 613_614 c.471_472T>TA c.(469-474)cgtaaafs p.R157fs MAP3K4_uc010kkc.1_Frame_Shift_Ins_p.R157fs|MAP3K4_uc003qto.3_Frame_Shift_Ins_p.R157fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 157 R -> H (in dbSNP:rs4559074). JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.N160fs*8(2) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) AGCGTGATCGTAAAAAAAATGT 0.406 C9orf84 158401 broad.mit.edu 37 9 114454529 114454530 + Frame_Shift_Ins INS - - A TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr9:114454528_114454529T>TA uc004bfr.3 - 24 3671_3672 c.3536_3537A>TA c.(3535-3537)ttafs p.L1179fs C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Ins_p.L1140fs|C9orf84_uc010mug.3_Frame_Shift_Ins_p.L1090fs NM_173521 NP_775792 Q5VXU9 CI084_HUMAN Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA. 1179 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCACAGGTGGTAAAAAACTTGA 0.351 FCHO1 23149 broad.mit.edu 37 19 17877620 17877623 + Splice_Site DEL GTGT GTGT - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:17877619_17877622GGTGT>G uc002nhg.3 + 7 615 c.336_splice c.e7+1 p.K112_splice FCHO1_uc010ebb.2_Splice_Site_p.K112_splice|FCHO1_uc002nhh.2_Splice_Site_p.K112_splice|FCHO1_uc010xpw.1_Splice_Site_p.K62_splice|FCHO1_uc010ebc.1_Splice_Site_p.K119_splice NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 112 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CCCACAAGAAGGTGTGTGTCGTGG 0.603 PTPRH 5794 broad.mit.edu 37 19 55693409 55693412 + Frame_Shift_Del DEL CTCT CTCT - TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chr19:55693408_55693411ACTCT>A uc002qjq.3 - 18 3244_3247 c.3171_3174AGAGT>T c.(3169-3174)gagagtfs p.E1057fs PTPRH_uc010esv.3_Frame_Shift_Del_p.E879fs|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 1057 Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TCAACGGCCGACTCTCTCTCATCT 0.627 C1GALT1C1 29071 broad.mit.edu 37 X 119760555 119760556 + Frame_Shift_Ins INS - - C TCGA-D7-6528-01A-11D-1800-08 TCGA-D7-6528-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 153a64ee-6322-4f2e-b3df-77ef7d3a4cf0 c7abc1e5-aa3a-44df-bfca-490332206b15 g.chrX:119760554_119760555A>AC uc022cdo.1 - 0 467_468 c.467_468T>GT c.(466-468)tatfs p.Y156fs C1GALT1C1_uc004esy.3_Frame_Shift_Ins_p.Y156fs|C1GALT1C1_uc004esz.3_Frame_Shift_Ins_p.Y156fs NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA. 156 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 TTAACAAAAAATACTTTAGGTT 0.376